Documentation to access/integrate Adenine AI through Web-APIs.
Please log in to view your API key.
To access protected endpoints, you must authenticate your requests using an API key managed by Kong. Each user has a unique API key associated with their account, which can be passed in one of two ways:
Include the apikey in request header. For example:
Include the apikey as parameter. For example:
This endpoint enables flexible, free-text style querying of genetic evidence by allowing users to search by gene, disease, or variation across different categories such as cases, series, or somatic reports.
The data category/evidence type you want to search Adenine AI for. These refer to the source or structure of medical genetics evidence.
Indicates the type of biomedical entity provided in :search_term. It helps unambiguously determine how to interpret and route the query.
The actual value to be searched for. Its interpretation depends on the :entity provided as a path parameter described above.
ARSA, TP53, BRAFHGNC:783MONDO_0016575Krabbe, leukodystrophyARSA:c.1232C>TARSA:p.Thr411Ile
Note: Dots (.) and greater-than symbols (>) in variations must be URL-encoded when calling the API directly.
GET https://adenine.ai/api/v1/cases/genes/HSF4?apikey='YOUR API KEY'
200
{
"hits": [
{
"_id": "67a9264132642c0cd3a98c11",
"patient": {
"ethnicity": [
"iranian"
]
},
"genes": [
"HGNC:5227"
],
"symptoms": [
"HP_0000518"
],
"zygosity": "homozygous",
"consanguineous_parents": true,
"publication_year": "2016",
"pmid": "26490182",
"score": 15,
"has_variation_information": true,
"cpdots_flat": [
"HSF4:c.521T>C",
"HSF4:p.Leu174Pro"
]
},
{
"_id": "67a9264032642c0cd3a9679b",
"patient": {
"ethnicity": [
"chinese"
]
},
"genes": [
"HGNC:5227"
],
"symptoms": [
"HP_0000519"
],
"zygosity": "heterozygous",
"publication_year": "2014",
"pmid": "24637349",
"score": 13,
"has_variation_information": true,
"cpdots_flat": [
"HSF4:c.69G>T",
"HSF4:p.Lys23Asn"
]
},
{
"_id": "67a9264232642c0cd3a9a9d6",
"patient": {
"ethnicity": [
"british"
]
},
"genes": [
"HGNC:5227"
],
"diseases": [
"MONDO_0007290"
],
"publication_year": "2018",
"pmid": "29243736",
"score": 12,
"has_variation_information": true,
"cpdots_flat": [
"HSF4:c.190A>G",
"HSF4:p.Lys64Glu"
]
},
{
"_id": "67a9263f32642c0cd3a92f4c",
"patient": {
"ethnicity": [
"chinese"
]
},
"genes": [
"HGNC:5227"
],
"publication_year": "2006",
"pmid": "16876512",
"score": 11,
"has_variation_information": true,
"cpdots_flat": [
"HSF4:c.217C>T",
"HSF4:p.Arg73Cys",
"HSF4:c.221G>A",
"HSF4:p.Arg74His"
]
},
{
"_id": "67a9264132642c0cd3a97240",
"patient": {
"ethnicity": [
"chinese"
]
},
"genes": [
"HGNC:5227"
],
"publication_year": "2015",
"pmid": "25877371",
"score": 9,
"has_variation_information": true,
"cpdots_flat": [
"HSF4:c.331C>T",
"HSF4:p.Arg111Cys"
]
},
{
"_id": "67a9264232642c0cd3a9ac43",
"genes": [
"HGNC:5227"
],
"patient": {},
"publication_year": "2018",
"pmid": "30316871",
"score": 9,
"has_variation_information": true,
"cpdots_flat": [
"HSF4:p.Ser299Ala",
"HSF4:p.Ser299Asp"
]
},
{
"_id": "67a9264432642c0cd3aa19cd",
"genes": [
"HGNC:7146",
"HGNC:1393",
"HGNC:4042",
"HGNC:3603",
"HGNC:2200",
"HGNC:5227",
"HGNC:4281",
"HGNC:7103",
"HGNC:11724"
],
"patient": {},
"publication_year": "2024",
"pmid": "38315492",
"score": 6,
"has_variation_information": false
}
],
"facets": {
"publication_year": {
"2006": 1,
"2014": 1,
"2015": 1,
"2016": 1,
"2018": 2,
"2024": 1
},
"genes": {
"HGNC:5227": 7,
"HGNC:7146": 1,
"HGNC:1393": 1,
"HGNC:4042": 1,
"HGNC:3603": 1,
"HGNC:2200": 1,
"HGNC:4281": 1,
"HGNC:7103": 1,
"HGNC:11724": 1
},
"diseases": {
"MONDO_0007290": 1
},
"patient.sex": {},
"patient.ethnicity": {
"iranian": 1,
"chinese": 3,
"british": 1
},
"zygosity": {
"homozygous": 1,
"heterozygous": 1,
"other": 5
},
"age_group": {
"pediatric": 0,
"adults": 0,
"geriatric": 0,
"unknown": 7
},
"de_novo": {
"de Novo Mutation": 0,
"Unknown Origin": 7
},
"has_variations": {
"Yes": 6,
"No": 1
}
},
"mapping_help": {
"genes": {
"HGNC:11724": "TEK",
"HGNC:1393": "CACNA1F",
"HGNC:2200": "COL2A1",
"HGNC:3603": "FBN1",
"HGNC:4042": "FZD4",
"HGNC:4281": "GJA8",
"HGNC:5227": "HSF4",
"HGNC:7103": "MIP",
"HGNC:7146": "TRPM1"
},
"diseases": {
"MONDO_0007290": "cataract 5 multiple types"
},
"symptoms": {
"HP_0000518": "Cataract",
"HP_0000519": "Developmental cataract"
}
}
}
GET https://adenine.ai/api/v1/cases/diseases/metachromatic?apikey='YOUR API KEY'
200
{
"message": "More than one diseases matched with the query, the preferred name of the diseases are metachromatic leukodystrophy due to saposin B deficiency (MONDO_0009590), metachromatic leukodystrophy, juvenile form (MONDO_0009591), metachromatic leukodystrophy, adult form (MONDO_0017730), metachromatic leukodystrophy, late infantile form (MONDO_0017729), metachromatic leukodystrophy (MONDO_0018868)}"
}
GET https://adenine.ai/api/v1/cases/diseases/gregory?apikey='YOUR API KEY'
200
{"message":"The disease 'gregory' did not resolve to any diseases. Make sure the disease name is a valid."}
This endpoint returns a single curated article by its document ID from the specified evidence :category. It is useful when retrieving an exact case, functional study, somatic series, or other evidence record by ID.
Specifies the evidence collection to search.
The unique document ID to retrieve from the given category (e.g. MongoDB ObjectId).
GET https://adenine.ai/api/v1/cases/67a9263f32642c0cd3a9248c?apikey='YOUR API KEY'
200
{
"case": [
{
"_id": "67a9263f32642c0cd3a9248c",
"patient": {
"age": 10,
"age_unit": "year",
"sex": "female"
},
"interventions": {
"unmapped_entities": [
"vincristine"
]
},
"article": {
"pmid": "15382281",
"title": "Vincristine neuropathy: neurophysiological and genetic studies in a case of Wilms tumor.",
"abstract": "We report a 10-year-old female with Wilms tumor (WT) who developed severe neuropathy after the fifth weekly dose of vincristine. The girl was previously asymptomatic and the family history was negative for inherited neuropathies. Neurophysiological studies and electrodiagnostic findings were suggestive of a axonal neuropathy with greater motor than sensory characteristics not typical of Charcot-Marie-Tooth (CMT) Type 1A. Genetic studies were performed in view of the degree of neurotoxicity. Duplication of 17p11.2 was found that supported the diagnosis of CMT Type 1A. The patient is alive without disease and with minimal weakness of the lower extremities after 42 months. Neurophysiological studies, repeated at 8 and 24 months, were negative. Although the association of asymptomatic CMT and vincristine neuropathy has been previously reported, the present case is of note because the reversible neuropathy occurred after five doses of vincristine, suggesting that possible more people suffering vincristine neurotoxicity may have underlying and asymptomatic CMT.",
"year": "2004",
"journal": "Pediatric blood & cancer"
},
"family_profiled": false,
"diagnostic_procedures": {
"unmapped_entities": [
"Neurophysiological studies",
"electrodiagnostic findings"
]
},
"curation_quality": {
"number_of_mapped_terms": 7,
"thickness": 10
},
"diseases": {
"mapped_entities": [
{
"_id": "MONDO_0006058",
"pref_name": "Wilms tumor",
"source_uids": [
"MEDGEN:10221",
"MESH:D009396",
"NCIT:C3267",
"UMLS:C0027708"
],
"definition": "An embryonal neoplasm characterized by the presence of epithelial, mesenchymal, and blastema components. The vast majority of cases arise from the kidney. A small number of cases with morphologic features resembling Wilms tumor of the kidney have been reported arising from the ovary and the cervix.",
"synonyms": [
"Wilms tumor",
"Wilms' tumor",
"Wilms' tumour",
"Nephroblastoma",
"NEPHROBLASTOMA",
"nephroblastoma",
"Nephroblastomas",
"Nephroblastoma, NOS",
"Nephroblastoma NOS",
"KIDNEY, ADENOMYOSARCOMA, EMBRYONAL",
"RENAL CANCER, WILMS",
"KIDNEY, CARCINOSARCOMA, EMBRYONAL",
"kidney; embryoma",
"KIDNEY, EMBRYOMA",
"embryoma; kidney",
"KIDNEY, EMBRYONAL MIXED TUMOR",
"Embryonal adenosarcoma",
"Renal adenosarcoma",
"Embryonal nephroma",
"Nephroma",
"nephroma",
"Nephroma, NOS",
"nephromas",
"[M]Nephroblastoma NOS",
"Wilms Tumor",
"tumor, Wilms'",
"tumor wilms'",
"tumor wilms",
"tumor; Wilms",
"WILMS TUMOR",
"wilms tumor",
"wilms' tumor",
"Wilms; tumor",
"Wilm Tumor",
"Wilm's Tumor",
"Wilms' Tumor",
"Wilm's tumor",
"tumor wilm's",
"tumor wilms's",
"tumors wilm's",
"tumors wilms",
"wilm tumor",
"wilm's tumor",
"wilms tumour",
"wilms' tumour",
"Wilms tumour",
"Tumor, Wilms'",
"Tumor, Wilms",
"Perlman syndrome",
"Wilms Tumor 1",
"WILMS TUMOR 1",
"WT1",
"Renal embryonic tumor",
"Wilms tumor and other childhood kidney tumors",
"Wilms' tumor and other childhood kidney tumors",
"Nephroblastoma (M-89603)",
"Nephroblastoma (morphologic abnormality)",
"Wilms",
"Kidney Wilms Tumor",
"Wilms Tumor of the Kidney",
"Wilms' Tumor of the Kidney",
"Renal Wilms Tumor",
"Renal Wilms' Tumor",
"Nephroblastoma (Wilms tumor)",
"Wilms tumor (nephroblastoma)",
"nephroblastoma of kidney",
"Kidney Nephroblastoma"
]
},
{
"_id": "MONDO_0005244",
"pref_name": "peripheral neuropathy",
"source_uids": [
"DOID:870",
"EFO:0003100",
"GARD:12192",
"MEDGEN:18386",
"MedDRA:10034606",
"NCIT:C119734",
"NCIT:C4731",
"SCTID:386033004",
"UMLS:C0031117"
],
"definition": "A disorder affecting the peripheral nervous system. It manifests with pain, tingling, numbness, and muscle weakness. It may be the result of physical injury, toxic substances, viral diseases, diabetes, renal failure, cancer, and drugs.",
"synonyms": [
"neuropathy",
"peripheral nerve disorder",
"peripheral neuropathy",
"Peripheral Neuropathy",
"Neuropathy;peripheral",
"Peripheral neuropathy",
"PERIPHERAL NEUROPATHY",
"Peripheral neuritis",
"PN - Peripheral neuropathy",
"Peripheral nerve damage",
"peripheral neuropathy (physical finding)"
]
}
]
},
"genes_mutation_context": {
"mapped_entities": []
},
"symptoms": {
"unmapped_entities": [
"severe neuropathy after the fifth weekly dose of vincristine",
"minimal weakness of the lower extremities"
],
"mapped_entities": []
},
"genes_non_mutation_context": {
"mapped_entities": [
{
"_id": "HGNC:9118",
"cui": "C1418677",
"pref_name": "PMP22 gene",
"synonyms": [
"PMP22 Gene",
"PERIPHERAL MYELIN PROTEIN 22",
"peripheral myelin protein 22",
"PMP22",
"GAS3",
"Sp110",
"Charcot-Marie-Tooth neuropathy 1A (greatly reduced nerve conduction velocity, hereditary motor sensory neuropathy Ia)",
"Peripheral Myelin Protein 22 Gene",
"HMSNIA",
"CMT1A",
"GROWTH ARREST-SPECIFIC 3",
"HNPP"
],
"source_uids": [
"LNC:LP19757-1",
"HGNC:9118",
"MTH:NOCODE",
"NCI:C75900",
"OMIM:601097"
]
}
]
},
"phenotype_mentions": {
"unmapped_entities": [
"Charcot-Marie-Tooth Type 1A"
],
"mapped_entities": []
}
}
]
}