Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI169/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "20", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0042, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.002, "KGP_genomes_SAS_maf": 0.0194, "gnomad_maf": 0.005821, "gnomad_AFR_maf": 0.0001963, "gnomad_AMR_maf": 0.002173, "gnomad_ASJ_maf": 0.02255, "gnomad_EAS_maf": 5.464e-05, "gnomad_FIN_maf": 4.621e-05, "gnomad_NFE_maf": 0.001561, "gnomad_OTH_maf": 0.005927, "gnomad_SAS_maf": 0.03035, "ESP_AA_maf": 0.001141, "ESP_EA_maf": 0.00187 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.897917, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38298394, "genomic_position_hg38": 38071251, "chromosome": "2", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:40.627958", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1103G>A", "protein_change": "p.Arg368His", "transcript_id": "NM_000104.4", "dbsnp_id": "rs79204362", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 3 }, "data": [ { "type": "Combination", "id": "OLI010" }, { "type": "Combination", "id": "OLI169" }, { "type": "Combination", "id": "OLI460" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/20/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/20/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/20/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/20/gene/?format=api" }, "data": { "type": "Gene", "id": "CYP1B1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/20/?format=api" } }, { "type": "SmallVariant", "id": "340", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0026, "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": 0.0133, "gnomad_maf": 0.0009819, "gnomad_AFR_maf": 6.152e-05, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 5.437e-05, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0, "gnomad_OTH_maf": 0.000163, "gnomad_SAS_maf": 0.007937, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.127939, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 171621608, "genomic_position_hg38": 171652468, "chromosome": "1", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:42.520135", "ref_allele": "C", "alt_allele": "A", "cdna_change": "c.144G>T", "protein_change": "p.Gln48His", "transcript_id": "NM_000261.1", "dbsnp_id": "rs74315339", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI169" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/340/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/340/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/340/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/340/gene/?format=api" }, "data": { "type": "Gene", "id": "MYOC" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/340/?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 } }