Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI112/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "232", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0018, "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": 0.0092, "gnomad_maf": 0.0008391, "gnomad_AFR_maf": 6.154e-05, "gnomad_AMR_maf": 5.782e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 5.437e-05, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 6.155e-05, "gnomad_OTH_maf": 0.0003257, "gnomad_SAS_maf": 0.006467, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 2.759984, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 182542865, "genomic_position_hg38": 181678138, "chromosome": "2", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:41.892198", "ref_allele": "G", "alt_allele": "C", "cdna_change": "c.723C>G", "protein_change": "p.His241Gln", "transcript_id": "NM_002500.4", "dbsnp_id": "rs561017686", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI112" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/232/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/232/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/232/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/232/gene/?format=api" }, "data": { "type": "Gene", "id": "NEUROD1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/232/?format=api" } }, { "type": "SmallVariant", "id": "233", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0032, "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": 0.0164, "gnomad_maf": 0.001286, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0, "gnomad_OTH_maf": 0.000688, "gnomad_SAS_maf": 0.009965, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.260193, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 28498656, "genomic_position_hg38": 27924519, "chromosome": "13", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:41.898361", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.670G>A", "protein_change": "p.Glu224Lys", "transcript_id": "NM_000209.3", "dbsnp_id": "rs137852787", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI112" }, { "type": "Combination", "id": "OLI113" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/233/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/233/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/233/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/233/gene/?format=api" }, "data": { "type": "Gene", "id": "PDX1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/233/?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 } }