Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI629/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "1374", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0044, "KGP_genomes_AFR_maf": 0.0015, "KGP_genomes_AMR_maf": 0.0086, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0139, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.01041, "gnomad_AFR_maf": 0.00203, "gnomad_AMR_maf": 0.005234, "gnomad_ASJ_maf": 0.009129, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.02543, "gnomad_NFE_maf": 0.01427, "gnomad_OTH_maf": 0.01744, "gnomad_SAS_maf": 0.001045, "ESP_AA_maf": 0.001593, "ESP_EA_maf": 0.01384 }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": -0.128483, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 31200415, "genomic_position_hg38": 31189094, "chromosome": "16", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:48.717145", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.833-29C>T", "protein_change": null, "transcript_id": "ENST00000254108.7", "dbsnp_id": "rs72550862", "variant_effect": "unknown" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI628" }, { "type": "Combination", "id": "OLI629" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1374/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1374/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1374/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1374/gene/?format=api" }, "data": { "type": "Gene", "id": "FUS" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1374/?format=api" } }, { "type": "SmallVariant", "id": "1375", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0787, "KGP_genomes_AFR_maf": 0.1301, "KGP_genomes_AMR_maf": 0.0259, "KGP_genomes_EAS_maf": 0.1359, "KGP_genomes_EUR_maf": 0.0308, "KGP_genomes_SAS_maf": 0.0368, "gnomad_maf": 0.04422, "gnomad_AFR_maf": 0.1196, "gnomad_AMR_maf": 0.01984, "gnomad_ASJ_maf": 0.07273, "gnomad_EAS_maf": 0.1257, "gnomad_FIN_maf": 0.02569, "gnomad_NFE_maf": 0.02796, "gnomad_OTH_maf": 0.04371, "gnomad_SAS_maf": 0.0471, "ESP_AA_maf": 0.1176, "ESP_EA_maf": 0.03221 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 0.770013, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 13152400, "genomic_position_hg38": 13110400, "chromosome": "10", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:48.722900", "ref_allele": "T", "alt_allele": "A", "cdna_change": "c.293T>A", "protein_change": "p.Met98Lys", "transcript_id": "NM_001008211.1", "dbsnp_id": "rs11258194", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI629" }, { "type": "Combination", "id": "OLI631" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1375/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1375/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1375/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1375/gene/?format=api" }, "data": { "type": "Gene", "id": "OPTN" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1375/?format=api" } }, { "type": "CopyNumberVariant", "id": "530", "attributes": { "status": "CU", "genomic_position_hg19": 27573539, "genomic_position_hg38": 27573541, "chromosome": "9", "annotation_flag": "cnv", "lastmodified": "2021-10-18T11:00:53.931468", "location": "9p21.2", "sequence": "GGGGCC", "number_of_repeats": "{\"bounds\": \"[)\", \"lower\": \"30\", \"upper\": null}", "type_cnv": "repeat" }, "relationships": { "in_combination": { "meta": { "count": 30 }, "data": [ { "type": "Combination", "id": "OLI271" }, { "type": "Combination", "id": "OLI272" }, { "type": "Combination", "id": "OLI273" }, { "type": "Combination", "id": "OLI561" }, { "type": "Combination", "id": "OLI605" }, { "type": "Combination", "id": "OLI624" }, { "type": "Combination", "id": "OLI625" }, { "type": "Combination", "id": "OLI626" }, { "type": "Combination", "id": "OLI627" }, { "type": "Combination", "id": "OLI628" }, { "type": "Combination", "id": "OLI629" }, { "type": "Combination", "id": "OLI630" }, { "type": "Combination", "id": "OLI631" }, { "type": "Combination", "id": "OLI632" }, { "type": "Combination", "id": "OLI633" }, { "type": "Combination", "id": "OLI637" }, { "type": "Combination", "id": "OLI638" }, { "type": "Combination", "id": "OLI655" }, { "type": "Combination", "id": "OLI656" }, { "type": "Combination", "id": "OLI657" }, { "type": "Combination", "id": "OLI769" }, { "type": "Combination", "id": "OLI770" }, { "type": "Combination", "id": "OLI771" }, { "type": "Combination", "id": "OLI772" }, { "type": "Combination", "id": "OLI773" }, { "type": "Combination", "id": "OLI774" }, { "type": "Combination", "id": "OLI822" }, { "type": "Combination", "id": "OLI830" }, { "type": "Combination", "id": "OLI1009" }, { "type": "Combination", "id": "OLI1011" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/530/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/530/combinations/?format=api" } }, "gene_name": { "data": { "type": "Gene", "id": "C9orf72" }, "links": { "related": "https://olida.ibsquare.be/api/genes/C9orf72/?format=api" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/530/?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": 3 } }