Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI435/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "929", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0084, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0144, "KGP_genomes_EAS_maf": 0.0179, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0143, "gnomad_maf": 0.006093, "gnomad_AFR_maf": 0.0003076, "gnomad_AMR_maf": 0.02781, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.01903, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 7.912e-05, "gnomad_OTH_maf": 0.004886, "gnomad_SAS_maf": 0.005749, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0001163 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.98701, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 135147182, "genomic_position_hg38": 132271795, "chromosome": "9", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:46.085933", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.7114C>T", "protein_change": "p.Asp2372Asn", "transcript_id": null, "dbsnp_id": "rs150673589", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI435" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/929/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/929/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/929/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/929/gene/?format=api" }, "data": { "type": "Gene", "id": "SETX" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/929/?format=api" } }, { "type": "SmallVariant", "id": "930", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0076, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0347, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0031, "gnomad_maf": 0.003103, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0003469, "gnomad_ASJ_maf": 0.004366, "gnomad_EAS_maf": 0.03453, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0002551, "gnomad_OTH_maf": 0.002444, "gnomad_SAS_maf": 0.00147, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0003488 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": -0.906458, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 13178766, "genomic_position_hg38": 13136766, "chromosome": "10", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:46.092515", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.1634G>A", "protein_change": "p.Arg545Gln", "transcript_id": "NM_021980.4", "dbsnp_id": "rs75654767", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 5 }, "data": [ { "type": "Combination", "id": "OLI435" }, { "type": "Combination", "id": "OLI436" }, { "type": "Combination", "id": "OLI437" }, { "type": "Combination", "id": "OLI439" }, { "type": "Combination", "id": "OLI442" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/930/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/930/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/930/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/930/gene/?format=api" }, "data": { "type": "Gene", "id": "OPTN" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/930/?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 } }