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/PFN1/?format=api
{ "data": { "type": "Gene", "id": "PFN1", "attributes": { "go_molecular_function": [ "actin monomer binding", "protein binding", "phosphotyrosine residue binding", "adenyl-nucleotide exchange factor activity", "RNA binding", "actin binding", "proline-rich region binding", "cadherin binding", "phosphatidylinositol-4,5-bisphosphate binding", "small GTPase binding" ], "pathway_id": [ "kegg_path:hsa05014", "R-HSA-195721", "R-HSA-162582", "kegg_path:hsa04810", "R-HSA-195258", "kegg_path:hsa05131", "R-HSA-376176", "kegg_path:hsa05132", "R-HSA-109582", "R-HSA-3858494", "kegg_path:hsa04015", "R-HSA-114608", "R-HSA-9675108", "R-HSA-422475", "R-HSA-194315", "R-HSA-1266738", "R-HSA-76005", "R-HSA-4086400", "R-HSA-5663220", "R-HSA-76002" ], "essential_gene": "Essential", "status": null, "uniprot_acc": "P07737", "ensembl_id": "ENSG00000108518", "entrez_id": "5216", "chromosome_number": "17" }, "relationships": { "variant_set": { "meta": { "count": 1 }, "data": [ { "type": "SmallVariant", "id": "2093" } ], "links": { "self": "https://olida.ibsquare.be/api/genes/PFN1/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/genes/PFN1/variants/?format=api" } }, "genecombination_set": { "meta": { "count": 1 }, "data": [ { "type": "GeneCombination", "id": "725" } ], "links": { "self": "https://olida.ibsquare.be/api/genes/PFN1/relationships/genecombination_set?format=api", "related": "https://olida.ibsquare.be/api/genes/PFN1/genecombinations/?format=api" } } }, "links": { "self": "https://olida.ibsquare.be/api/genes/PFN1/?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": "2022-08-04T14:14:58.485938", "status": "CU", "curator": null, "submitter": "cnachteg" } }