Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/DNAH6/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "1335", "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": 3.165e-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": 4.886e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 8.782e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.562322, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 84896510, "genomic_position_hg38": 84669386, "chromosome": "2", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:48.550683", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.6182G>A", "protein_change": "p.Arg2061Gln", "transcript_id": "NM_001370.1", "dbsnp_id": "rs765469238", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI607" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1335/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1335/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1335/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1335/gene/?format=api" }, "data": { "type": "Gene", "id": "DNAH6" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1335/?format=api" } }, { "type": "SmallVariant", "id": "1336", "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": 6.37e-06, "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": 0.0, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 4.396e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.778224, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 85032873, "genomic_position_hg38": 84805749, "chromosome": "2", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:48.556650", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.11566G>A", "protein_change": "p.Glu3856Lys", "transcript_id": "NM_001370.1", "dbsnp_id": "rs267599484", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI608" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1336/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1336/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1336/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1336/gene/?format=api" }, "data": { "type": "Gene", "id": "DNAH6" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1336/?format=api" } }, { "type": "SmallVariant", "id": "1338", "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": 5.114e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.000367, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 6.618e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.141582, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 84936515, "genomic_position_hg38": 84709391, "chromosome": "2", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:48.568882", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.9097G>A", "protein_change": "p.Asp3033Asn", "transcript_id": "NM_001370.1", "dbsnp_id": "rs549377464", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI609" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1338/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1338/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1338/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1338/gene/?format=api" }, "data": { "type": "Gene", "id": "DNAH6" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1338/?format=api" } }, { "type": "SmallVariant", "id": "1340", "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": "Possibly Damaging", "cadd_prediction": 1.989603, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 84800607, "genomic_position_hg38": 84573483, "chromosome": "2", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:48.580970", "ref_allele": "C", "alt_allele": "G", "cdna_change": "c.1820C>G", "protein_change": "p.Ala607Gly", "transcript_id": "NM_001370.1", "dbsnp_id": "rs756836767", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI610" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1340/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1340/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1340/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1340/gene/?format=api" }, "data": { "type": "Gene", "id": "DNAH6" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1340/?format=api" } }, { "type": "SmallVariant", "id": "1341", "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": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.912329, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 84811262, "genomic_position_hg38": 84584138, "chromosome": "2", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:48.587132", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.2369T>C", "protein_change": "p.Ile790Thr", "transcript_id": "NM_001370.1", "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI611" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1341/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1341/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1341/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1341/gene/?format=api" }, "data": { "type": "Gene", "id": "DNAH6" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1341/?format=api" } }, { "type": "SmallVariant", "id": "1344", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0002, "KGP_genomes_AFR_maf": 0.0008, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 5.766e-05, "gnomad_AFR_maf": 0.001011, "gnomad_AMR_maf": 4.068e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0007225, "ESP_EA_maf": 0.0 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.927031, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 84932653, "genomic_position_hg38": 84705529, "chromosome": "2", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:48.605212", "ref_allele": "T", "alt_allele": "G", "cdna_change": "c.8509T>G", "protein_change": "p.Phe2837Val", "transcript_id": "NM_001370.1", "dbsnp_id": "rs372727336", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI612" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1344/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1344/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1344/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1344/gene/?format=api" }, "data": { "type": "Gene", "id": "DNAH6" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1344/?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": 6 } }