Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/CFAP410/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "1371", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0026, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0119, "KGP_genomes_SAS_maf": 0.001, "gnomad_maf": 0.007977, "gnomad_AFR_maf": 0.00128, "gnomad_AMR_maf": 0.005161, "gnomad_ASJ_maf": 0.0004073, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.02269, "gnomad_NFE_maf": 0.01094, "gnomad_OTH_maf": 0.007742, "gnomad_SAS_maf": 0.001184, "ESP_AA_maf": 0.0006815, "ESP_EA_maf": 0.01058 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 0.588207, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 45753117, "genomic_position_hg38": 44333234, "chromosome": "21", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:48.699166", "ref_allele": "C", "alt_allele": "A", "cdna_change": "c.172G>T", "protein_change": "p.Val58Leu", "transcript_id": null, "dbsnp_id": "rs75087725", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI625" }, { "type": "Combination", "id": "OLI634" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1371/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1371/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1371/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1371/gene/?format=api" }, "data": { "type": "Gene", "id": "CFAP410" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1371/?format=api" } }, { "type": "SmallVariant", "id": "2036", "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": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.693593, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 45759005, "genomic_position_hg38": 44339122, "chromosome": "21", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:52.844771", "ref_allele": "A", "alt_allele": "C", "cdna_change": "c.73T>G", "protein_change": "p.Cys25Gly", "transcript_id": "NM_001271440", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI940" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2036/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2036/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2036/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2036/gene/?format=api" }, "data": { "type": "Gene", "id": "CFAP410" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2036/?format=api" } }, { "type": "SmallVariant", "id": "3610", "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": 0.0001176, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.002416, "gnomad_EAS_maf": 5.464e-05, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 9.035e-06, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 9.857e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.552101, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 45751757, "genomic_position_hg38": 44331874, "chromosome": "21", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:30.837428", "ref_allele": "G", "alt_allele": "A", "cdna_change": null, "protein_change": "p.Arg172Trp", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1703" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3610/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3610/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3610/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3610/gene/?format=api" }, "data": { "type": "Gene", "id": "CFAP410" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3610/?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 } }