Gene Instance
This API endpoint handles listing (/genes) and retrieval (/genes/<ID>/) of genes that are contained in the database due to their association to
genetic variants that are involved in at least one oligogenic combination in OLIDA.
GET /api/genes/JAK1/?format=api
{ "data": { "type": "Gene", "id": "JAK1", "attributes": { "go_molecular_function": [ "['non-membrane spanning protein tyrosine kinase activity', 'protein tyrosine kinase activity', 'ATP binding', 'protein phosphatase binding', 'CCR5 chemokine receptor binding', 'protein binding', 'metal ion binding', 'ubiquitin protein ligase binding', 'protein serine/threonine/tyrosine kinase activity', 'growth hormone receptor binding']" ], "pathway_id": [ "kegg_path:hsa01521", "kegg_path:hsa04151", "kegg_path:hsa04217", "kegg_path:hsa04380", "kegg_path:hsa04550", "kegg_path:hsa04621", "kegg_path:hsa04630", "kegg_path:hsa04658", "kegg_path:hsa04659", "kegg_path:hsa05140", "kegg_path:hsa05145", "kegg_path:hsa05152", "kegg_path:hsa05160", "kegg_path:hsa05161", "kegg_path:hsa05162", "kegg_path:hsa05163", "kegg_path:hsa05164", "kegg_path:hsa05165", "kegg_path:hsa05166", "kegg_path:hsa05167", "kegg_path:hsa05168", "kegg_path:hsa05169", "kegg_path:hsa05171", "kegg_path:hsa05200", "kegg_path:hsa05203", "kegg_path:hsa05212", "kegg_path:hsa05235", "R-HSA-1059683", "R-HSA-110056", "R-HSA-112409", "R-HSA-112411", "R-HSA-1169408", "R-HSA-1169410", "R-HSA-1266695", "R-HSA-1280215", "R-HSA-162582", "R-HSA-1643685", "R-HSA-168256", "R-HSA-447115", "R-HSA-449147", "R-HSA-449836", "R-HSA-451927", "R-HSA-512988", "R-HSA-5663205", "R-HSA-5673001", "R-HSA-5683057", "R-HSA-5684996", "R-HSA-6783589", "R-HSA-6783783", "R-HSA-6785807", "R-HSA-6788467", "R-HSA-877300", "R-HSA-877312", "R-HSA-8854691", "R-HSA-8983432", "R-HSA-8984722", "R-HSA-8985947", "R-HSA-9020558", "R-HSA-9020591", "R-HSA-9020956", "R-HSA-9020958", "R-HSA-909733", "R-HSA-912526", "R-HSA-912694", "R-HSA-913531", "R-HSA-9679191", "R-HSA-9679506", "kegg_path:hsa01521", "kegg_path:hsa04151", "kegg_path:hsa04217", "kegg_path:hsa04380", "kegg_path:hsa04550", "kegg_path:hsa04621", "kegg_path:hsa04630", "kegg_path:hsa04658", "kegg_path:hsa04659", "kegg_path:hsa05140", "kegg_path:hsa05145", "kegg_path:hsa05152", "kegg_path:hsa05160", "kegg_path:hsa05161", "kegg_path:hsa05162", "kegg_path:hsa05163", "kegg_path:hsa05164", "kegg_path:hsa05165", "kegg_path:hsa05166", "kegg_path:hsa05167", "kegg_path:hsa05168", "kegg_path:hsa05169", "kegg_path:hsa05171", "kegg_path:hsa05200", "kegg_path:hsa05203", "kegg_path:hsa05212", "kegg_path:hsa05235" ], "essential_gene": "Essential", "status": null, "uniprot_acc": "P23458", "ensembl_id": "None", "entrez_id": "ENSG00000162434", "chromosome_number": "1" }, "relationships": { "variant_set": { "meta": { "count": 1 }, "data": [ { "type": "SmallVariant", "id": "2797" } ], "links": { "self": "https://olida.ibsquare.be/api/genes/JAK1/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/genes/JAK1/variants/?format=api" } }, "genecombination_set": { "meta": { "count": 1 }, "data": [ { "type": "GeneCombination", "id": "934" } ], "links": { "self": "https://olida.ibsquare.be/api/genes/JAK1/relationships/genecombination_set?format=api", "related": "https://olida.ibsquare.be/api/genes/JAK1/genecombinations/?format=api" } } }, "links": { "self": "https://olida.ibsquare.be/api/genes/JAK1/?format=api" } }, "meta": { "database_name": "OLIgogenic diseases DAtabase (OLIDA)", "resource_url": "olida.ibsquare.be", "api_release_year": "2021", "api_developer": [ [ "Arnau Dillen", "arnau.dillen@ulb.ac.be" ], [ "Charlotte Nachtegael", "charlotte.nachtegael@ulb.be" ] ], "api_version": "0.3", "api_maintainers": [ [ "Charlotte Nachtegael", "charlotte.nachtegael@ulb.be" ] ], "api_documentation": [ "olida.ibsquare.be/api/swagger", "olida.ibsquare.be/api/redoc" ], "copyright": "Copyright (c) 2025 · OLIDA All Rights Reserved.", "license": "CC Attribution-NonCommercial 4.0 International License", "ontologies": { "ORDO": "http://bioportal.bioontology.org/ontologies/ORDO", "GENO": "http://purl.obolibrary.org/obo/geno.owl", "MI": "http://purl.obolibrary.org/obo/mi.owl", "NCIT": "http://purl.obolibrary.org/obo/ncit.owl", "OGI": "http://purl.obolibrary.org/obo/ogi.owl", "OGG": "http://purl.obolibrary.org/obo/ogg.owl" }, "relevant_publications_doi": [ "10.1093/nar/gkv1068", "10.1093/database/baac023" ], "lastmodified": "2023-05-16T12:02:32.901048", "status": "CU", "curator": null, "submitter": "cnachteg" } }