Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/BHMT/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "1579", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0006, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0031, "gnomad_maf": 0.0003424, "gnomad_AFR_maf": 0.0001231, "gnomad_AMR_maf": 2.899e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 5.442e-05, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 3.519e-05, "gnomad_OTH_maf": 0.0003263, "gnomad_SAS_maf": 0.002487, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.448302, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 78426800, "genomic_position_hg38": 79130977, "chromosome": "5", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:50.029138", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.1082G>A", "protein_change": "p.Arg361Gln", "transcript_id": "NM_001713.2", "dbsnp_id": "rs556850126", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI719" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1579/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1579/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1579/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1579/gene/?format=api" }, "data": { "type": "Gene", "id": "BHMT" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1579/?format=api" } }, { "type": "SmallVariant", "id": "1603", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0024, "KGP_genomes_AFR_maf": 0.0015, "KGP_genomes_AMR_maf": 0.0014, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.008, "KGP_genomes_SAS_maf": 0.001, "gnomad_maf": 0.004757, "gnomad_AFR_maf": 0.00203, "gnomad_AMR_maf": 0.002197, "gnomad_ASJ_maf": 0.0002977, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.005313, "gnomad_NFE_maf": 0.00788, "gnomad_OTH_maf": 0.003584, "gnomad_SAS_maf": 0.001666, "ESP_AA_maf": 0.001362, "ESP_EA_maf": 0.007558 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.242368, "mutationtaster_prediction": null }, "status": "CU", "genomic_position_hg19": 78417158, "genomic_position_hg38": 79121335, "chromosome": "5", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:50.179435", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.595G>A", "protein_change": "p.Gly199Ser", "transcript_id": "NM_001713.2", "dbsnp_id": "rs59866108", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI726" }, { "type": "Combination", "id": "OLI743" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1603/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1603/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1603/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1603/gene/?format=api" }, "data": { "type": "Gene", "id": "BHMT" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1603/?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" ], "Variant serializers": [ "SmallVariantSerializer", "CopyNumberVariantSerializer" ], "size": 2 } }