Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/DUOXA2/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "998", "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": 2.345861, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 45408396, "genomic_position_hg38": 45116198, "chromosome": "15", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:46.500059", "ref_allele": "C", "alt_allele": "T", "cdna_change": null, "protein_change": "p.Arg94Cys", "transcript_id": null, "dbsnp_id": "rs1326660372", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI466" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/998/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/998/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/998/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/998/gene/?format=api" }, "data": { "type": "Gene", "id": "DUOXA2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/998/?format=api" } }, { "type": "SmallVariant", "id": "999", "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": 6.171513, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 45409472, "genomic_position_hg38": 45117274, "chromosome": "15", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:46.506211", "ref_allele": "C", "alt_allele": "A", "cdna_change": null, "protein_change": "p.Tyr246Ter", "transcript_id": null, "dbsnp_id": "rs4774518", "variant_effect": "nonsense" }, "relationships": { "in_combination": { "meta": { "count": 3 }, "data": [ { "type": "Combination", "id": "OLI466" }, { "type": "Combination", "id": "OLI470" }, { "type": "Combination", "id": "OLI566" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/999/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/999/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/999/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/999/gene/?format=api" }, "data": { "type": "Gene", "id": "DUOXA2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/999/?format=api" } }, { "type": "SmallVariant", "id": "1173", "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": 2.369075, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 45408771, "genomic_position_hg38": 45116573, "chromosome": "15", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:47.579272", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.398G>A", "protein_change": "p.Arg133His", "transcript_id": "NM_207581.3", "dbsnp_id": "rs1055553864", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI562" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1173/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1173/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1173/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1173/gene/?format=api" }, "data": { "type": "Gene", "id": "DUOXA2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1173/?format=api" } }, { "type": "SmallVariant", "id": "2151", "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": 0.0001431, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.001861, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 9.309e-06, "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": 5.571633, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 45409472, "genomic_position_hg38": 45117274, "chromosome": "15", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:53.537898", "ref_allele": "C", "alt_allele": "G", "cdna_change": "c.738C>A", "protein_change": "p.Tyr246Ter", "transcript_id": "NM_207581.4", "dbsnp_id": "rs4774518", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI991" }, { "type": "Combination", "id": "OLI992" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2151/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2151/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2151/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2151/gene/?format=api" }, "data": { "type": "Gene", "id": "DUOXA2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2151/?format=api" } }, { "type": "SmallVariant", "id": "2154", "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": 0.0002943, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.004023, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.60444, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 45406896, "genomic_position_hg38": 45114698, "chromosome": "15", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:53.555305", "ref_allele": "T", "alt_allele": "G", "cdna_change": "c.93T>G", "protein_change": "p.Phe31Leu", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI993" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2154/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2154/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2154/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2154/gene/?format=api" }, "data": { "type": "Gene", "id": "DUOXA2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2154/?format=api" } }, { "type": "SmallVariant", "id": "2156", "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": 0.0002365, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.003281, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0, "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": 2.877374, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 45408786, "genomic_position_hg38": 45116588, "chromosome": "15", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:53.566821", "ref_allele": "A", "alt_allele": "AA", "cdna_change": "c.413dupA", "protein_change": "p.Tyr138Ter", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI1091" }, { "type": "Combination", "id": "OLI994" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2156/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2156/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2156/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2156/gene/?format=api" }, "data": { "type": "Gene", "id": "DUOXA2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2156/?format=api" } }, { "type": "SmallVariant", "id": "2521", "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": "Damaging", "cadd_prediction": 3.101836, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 45409473, "genomic_position_hg38": 45117275, "chromosome": "15", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:55.745869", "ref_allele": "G", "alt_allele": "C", "cdna_change": "c.739G>C", "protein_change": "p.Gly247Arg", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1174" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2521/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2521/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2521/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2521/gene/?format=api" }, "data": { "type": "Gene", "id": "DUOXA2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2521/?format=api" } }, { "type": "SmallVariant", "id": "3131", "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": 8.209e-06, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 5.59e-05, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 3.286e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.925673, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 45409405, "genomic_position_hg38": 45117207, "chromosome": "15", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:59.265750", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.671T>C", "protein_change": "p.Leu224Ser", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1486" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3131/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3131/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3131/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3131/gene/?format=api" }, "data": { "type": "Gene", "id": "DUOXA2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3131/?format=api" } }, { "type": "SmallVariant", "id": "3140", "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": 0.0001431, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.001861, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 9.309e-06, "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": 5.571633, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 45409472, "genomic_position_hg38": 45117274, "chromosome": "15", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:59.322242", "ref_allele": "C", "alt_allele": "G", "cdna_change": "c.738C>G", "protein_change": "p.Tyr246Ter", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI1492" }, { "type": "Combination", "id": "OLI1804" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3140/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3140/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3140/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3140/gene/?format=api" }, "data": { "type": "Gene", "id": "DUOXA2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3140/?format=api" } }, { "type": "SmallVariant", "id": "3152", "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": 2.877374, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 45408786, 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(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": 10 } }