Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI348/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "736", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0048, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0236, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.001642, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.02135, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0, "gnomad_OTH_maf": 0.0004416, "gnomad_SAS_maf": 0.0001048, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.591533, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 149639544, "genomic_position_hg38": 150471272, "chromosome": "X", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:44.892120", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1624C>T", "protein_change": "p.Pro542Ser", "transcript_id": "NM_001177465.3", "dbsnp_id": "rs146443503", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI348" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/736/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/736/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/736/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/736/gene/?format=api" }, "data": { "type": "Gene", "id": "MAMLD1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/736/?format=api" } }, { "type": "SmallVariant", "id": "737", "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": 0.54307, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 76919857, "genomic_position_hg38": 77208812, "chromosome": "11", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:44.898444", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.6051+9C>T", "protein_change": null, "transcript_id": "NM_000260.5", "dbsnp_id": "rs747742075", "variant_effect": "unknown" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI348" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/737/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/737/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/737/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/737/gene/?format=api" }, "data": { "type": "Gene", "id": "MYO7A" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/737/?format=api" } }, { "type": "SmallVariant", "id": "738", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0012, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.006, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0007319, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0006949, "gnomad_EAS_maf": 0.009297, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.000196, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 0.170064, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 75014921, "genomic_position_hg38": 74722580, "chromosome": "15", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:44.904924", "ref_allele": "G", "alt_allele": "C", "cdna_change": "c.518C>G", "protein_change": "p.Thr173Arg", "transcript_id": "NM_000499.4", "dbsnp_id": "rs28399427", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI348" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/738/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/738/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/738/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/738/gene/?format=api" }, "data": { "type": "Gene", "id": "CYP1A1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/738/?format=api" } }, { "type": "SmallVariant", "id": "739", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0104, "KGP_genomes_AFR_maf": 0.0008, "KGP_genomes_AMR_maf": 0.0274, "KGP_genomes_EAS_maf": 0.0238, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0082, "gnomad_maf": 0.01084, "gnomad_AFR_maf": 0.0005735, "gnomad_AMR_maf": 0.053, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.02751, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 3.777e-05, "gnomad_OTH_maf": 0.004509, "gnomad_SAS_maf": 0.008736, "ESP_AA_maf": 0.000227, "ESP_EA_maf": 0.0002326 }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 0.331172, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 228112131, "genomic_position_hg38": 227924430, "chromosome": "1", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:44.911377", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.353-30G>A", "protein_change": null, "transcript_id": "NM_003395.2", "dbsnp_id": "rs141239747", "variant_effect": "unknown" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI348" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/739/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/739/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/739/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/739/gene/?format=api" }, "data": { "type": "Gene", "id": "WNT9A" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/739/?format=api" } }, { "type": "SmallVariant", "id": "740", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0004, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.002, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0001654, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.002126, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 9.913e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 0.528144, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 79455607, "genomic_position_hg38": 78534453, "chromosome": "4", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:44.917901", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.10930C>T", "protein_change": "p.Leu3644=", "transcript_id": "NM_025074.7", "dbsnp_id": "rs183729151", "variant_effect": "silent" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI348" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/740/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/740/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/740/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/740/gene/?format=api" }, "data": { "type": "Gene", "id": "FRAS1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/740/?format=api" } }, { "type": "SmallVariant", "id": "741", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0024, "KGP_genomes_AFR_maf": 0.0008, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0109, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.001014, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0002287, "gnomad_EAS_maf": 0.01248, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 1.191e-05, "gnomad_OTH_maf": 0.0001983, "gnomad_SAS_maf": 3.618e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 0.338924, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 42005656, "genomic_position_hg38": 41966058, "chromosome": "7", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:44.924354", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.3015C>T", "protein_change": "p.Ala1005=", "transcript_id": "NM_000168.5", "dbsnp_id": "rs200965852", "variant_effect": "silent" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI348" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/741/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/741/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/741/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/741/gene/?format=api" }, "data": { "type": "Gene", "id": "GLI3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/741/?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) 2026 · 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": 6 } }