Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/DUOXA1/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "2353", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0036, "KGP_genomes_AFR_maf": 0.0015, "KGP_genomes_AMR_maf": 0.0014, "KGP_genomes_EAS_maf": 0.002, "KGP_genomes_EUR_maf": 0.007, "KGP_genomes_SAS_maf": 0.0061, "gnomad_maf": 0.00395, "gnomad_AFR_maf": 0.001538, "gnomad_AMR_maf": 0.004713, "gnomad_ASJ_maf": 0.004367, "gnomad_EAS_maf": 0.003208, "gnomad_FIN_maf": 0.002635, "gnomad_NFE_maf": 0.002946, "gnomad_OTH_maf": 0.005051, "gnomad_SAS_maf": 0.009113, "ESP_AA_maf": 0.001592, "ESP_EA_maf": 0.002792 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.954706, "mutationtaster_prediction": null }, "status": "CU", "genomic_position_hg19": 45412435, "genomic_position_hg38": 45120237, "chromosome": "15", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:54.759361", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.638C>T", "protein_change": "p.Thr213Met", "transcript_id": "NM_001276264.2", "dbsnp_id": "rs149960164", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI1077" }, { "type": "Combination", "id": "OLI1078" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2353/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2353/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2353/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2353/gene/?format=api" }, "data": { "type": "Gene", "id": "DUOXA1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2353/?format=api" } }, { "type": "SmallVariant", "id": "2356", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0088, "KGP_genomes_AFR_maf": 0.0204, "KGP_genomes_AMR_maf": 0.0029, "KGP_genomes_EAS_maf": 0.0149, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.00323, "gnomad_AFR_maf": 0.01876, "gnomad_AMR_maf": 0.0009259, "gnomad_ASJ_maf": 0.007651, "gnomad_EAS_maf": 0.0174, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0002198, "gnomad_OTH_maf": 0.004076, "gnomad_SAS_maf": 0.0009146, "ESP_AA_maf": 0.01865, "ESP_EA_maf": 0.0004653 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.797571, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 45411399, "genomic_position_hg38": 45119201, "chromosome": "15", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:54.778053", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.937A>G", "protein_change": "p.Ser313Gly", "transcript_id": "NM_001276264.2", "dbsnp_id": "rs16977686", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI1079" }, { "type": "Combination", "id": "OLI1498" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2356/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2356/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2356/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2356/gene/?format=api" }, "data": { "type": "Gene", "id": "DUOXA1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2356/?format=api" } }, { "type": "SmallVariant", "id": "3126", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0036, "KGP_genomes_AFR_maf": 0.0015, "KGP_genomes_AMR_maf": 0.0014, "KGP_genomes_EAS_maf": 0.002, "KGP_genomes_EUR_maf": 0.007, "KGP_genomes_SAS_maf": 0.0061, "gnomad_maf": 0.00395, "gnomad_AFR_maf": 0.001538, "gnomad_AMR_maf": 0.004713, "gnomad_ASJ_maf": 0.004367, "gnomad_EAS_maf": 0.003208, "gnomad_FIN_maf": 0.002635, "gnomad_NFE_maf": 0.002946, "gnomad_OTH_maf": 0.005051, "gnomad_SAS_maf": 0.009113, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.954706, "mutationtaster_prediction": null }, "status": "CU", "genomic_position_hg19": 45412435, "genomic_position_hg38": 45120237, "chromosome": "15", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:59.235395", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.503C>T", "protein_change": "p.Thr168Met", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 3 }, "data": [ { "type": "Combination", "id": "OLI1484" }, { "type": "Combination", "id": "OLI1496" }, { "type": "Combination", "id": "OLI1497" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3126/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3126/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3126/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3126/gene/?format=api" }, "data": { "type": "Gene", "id": "DUOXA1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3126/?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 } }