Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/CTRC/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "1457", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0012, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0014, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0051, "gnomad_maf": 0.001141, "gnomad_AFR_maf": 0.0003692, "gnomad_AMR_maf": 0.0001446, "gnomad_ASJ_maf": 0.0007937, "gnomad_EAS_maf": 0.0001087, "gnomad_FIN_maf": 4.621e-05, "gnomad_NFE_maf": 0.0003253, "gnomad_OTH_maf": 0.0003258, "gnomad_SAS_maf": 0.007382, "ESP_AA_maf": 0.000227, "ESP_EA_maf": 0.0 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.311766, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 15772155, "genomic_position_hg38": 15445660, "chromosome": "1", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:49.274067", "ref_allele": "G", "alt_allele": "A", "cdna_change": null, "protein_change": "p.Val235Ile", "transcript_id": null, "dbsnp_id": "rs140993290", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI674" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1457/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1457/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1457/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1457/gene/?format=api" }, "data": { "type": "Gene", "id": "CTRC" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1457/?format=api" } }, { "type": "SmallVariant", "id": "1458", "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": null, "pp2_hvar_prediction": null, "cadd_prediction": 1.993246, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 15772189, "genomic_position_hg38": 15445694, "chromosome": "1", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:49.280711", "ref_allele": "GCAAGAAGCCGGTAGTCTACACCCG", "alt_allele": "G", "cdna_change": "c.738_761del", "protein_change": "p.Lys247_Arg254del", "transcript_id": "NM_007272.3", "dbsnp_id": "rs515726210", "variant_effect": "deletion" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI675" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1458/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1458/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1458/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1458/gene/?format=api" }, "data": { "type": "Gene", "id": "CTRC" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1458/?format=api" } }, { "type": "SmallVariant", "id": "1459", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0016, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.008, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.004429, "gnomad_AFR_maf": 0.000554, "gnomad_AMR_maf": 0.000318, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.02468, "gnomad_NFE_maf": 0.004408, "gnomad_OTH_maf": 0.003258, "gnomad_SAS_maf": 0.001274, "ESP_AA_maf": 0.000227, "ESP_EA_maf": 0.003837 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.189051, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 15772212, "genomic_position_hg38": 15445717, "chromosome": "1", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:49.287187", "ref_allele": "C", "alt_allele": "T", "cdna_change": null, "protein_change": "p.Arg254Trp", "transcript_id": null, "dbsnp_id": "rs121909293", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI676" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1459/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1459/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1459/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1459/gene/?format=api" }, "data": { "type": "Gene", "id": "CTRC" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1459/?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 } }