Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/TMPRSS3/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "25", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0004, "KGP_genomes_AFR_maf": 0.0008, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.001, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0009706, "gnomad_AFR_maf": 0.0003077, "gnomad_AMR_maf": 0.001388, "gnomad_ASJ_maf": 0.0004961, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 9.239e-05, "gnomad_NFE_maf": 0.001495, "gnomad_OTH_maf": 0.001467, "gnomad_SAS_maf": 0.0001633, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.002093 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.505239, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 43795896, "genomic_position_hg38": 42375787, "chromosome": "21", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:40.660820", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.895G>A", "protein_change": "p.Ala299Thr", "transcript_id": "NM_032404.2", "dbsnp_id": "rs56264519", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI013" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/25/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/25/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/25/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/25/gene/?format=api" }, "data": { "type": "Gene", "id": "TMPRSS3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/25/?format=api" } }, { "type": "SmallVariant", "id": "118", "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": 0.0004896, "gnomad_AFR_maf": 0.0001231, "gnomad_AMR_maf": 5.786e-05, "gnomad_ASJ_maf": 0.0009927, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 4.639e-05, "gnomad_NFE_maf": 0.0009327, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 6.534e-05, "ESP_AA_maf": 0.000469, "ESP_EA_maf": 0.0006058 }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 4.153023, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 43809151, "genomic_position_hg38": 42389042, "chromosome": "21", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:41.221371", "ref_allele": "TG", "alt_allele": "T", "cdna_change": "c.208delC", "protein_change": "p.His70ThrfsTer19", "transcript_id": "ENST00000291532.3", "dbsnp_id": "rs727503493", "variant_effect": "frameshift" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI060" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/118/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/118/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/118/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/118/gene/?format=api" }, "data": { "type": "Gene", "id": "TMPRSS3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/118/?format=api" } }, { "type": "SmallVariant", "id": "119", "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": 3.583e-05, "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": 7.92e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 3.713941, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 43804115, "genomic_position_hg38": 42384006, "chromosome": "21", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:41.227402", "ref_allele": "A", "alt_allele": "AT", "cdna_change": "c.579dupA", "protein_change": "p.Cys194MetfsTer17", "transcript_id": "ENST00000291532.3", "dbsnp_id": "rs397517376", "variant_effect": "frameshift" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI060" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/119/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/119/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/119/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/119/gene/?format=api" }, "data": { "type": "Gene", "id": "TMPRSS3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/119/?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 } }