Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI1187/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "2542", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": null, "gnomad_AFR_maf": null, "gnomad_AMR_maf": null, "gnomad_ASJ_maf": null, "gnomad_EAS_maf": null, "gnomad_FIN_maf": null, "gnomad_NFE_maf": null, "gnomad_OTH_maf": null, "gnomad_SAS_maf": null, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.883014, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 731477, "genomic_position_hg38": 681477, "chromosome": "16", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:55.834390", "ref_allele": "A", "alt_allele": "T", "cdna_change": "c.398A>T", "protein_change": "p.Asp133Val", "transcript_id": "NM_005861.4", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1187" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2542/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2542/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2542/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2542/gene/?format=api" }, "data": { "type": "Gene", "id": "STUB1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2542/?format=api" } }, { "type": "CopyNumberVariant", "id": "2543", "attributes": { "status": "CU", "genomic_position_hg19": null, "genomic_position_hg38": null, "chromosome": "6", "annotation_flag": "cnv", "lastmodified": "2022-08-04T14:15:45.839041", "location": null, "sequence": "CAA/CAG", "number_of_repeats": "{\"bounds\": \"[)\", \"lower\": \"37\", \"upper\": \"43\"}", "type_cnv": "repeat" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI1187" }, { "type": "Combination", "id": "OLI1188" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2543/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2543/combinations/?format=api" } }, "gene_name": { "data": { "type": "Gene", "id": "TBP" }, "links": { "related": "https://olida.ibsquare.be/api/genes/TBP/?format=api" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2543/?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 } }