Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/BBS9/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "179", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0104, "KGP_genomes_AFR_maf": 0.0386, "KGP_genomes_AMR_maf": 0.0014, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.002526, "gnomad_AFR_maf": 0.03383, "gnomad_AMR_maf": 0.001911, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 4.409e-05, "gnomad_OTH_maf": 0.001796, "gnomad_SAS_maf": 9.808e-05, "ESP_AA_maf": 0.02951, "ESP_EA_maf": 0.0002326 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.267184, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 33397560, "genomic_position_hg38": 33357948, "chromosome": "7", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:41.574771", "ref_allele": "C", "alt_allele": "T", "cdna_change": null, "protein_change": "p.Thr549Ile", "transcript_id": null, "dbsnp_id": "rs59252892", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI087" }, { "type": "Combination", "id": "OLI1131" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/179/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/179/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/179/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/179/gene/?format=api" }, "data": { "type": "Gene", "id": "BBS9" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/179/?format=api" } }, { "type": "SmallVariant", "id": "180", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0048, "KGP_genomes_AFR_maf": 0.0174, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.001, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0009426, "gnomad_AFR_maf": 0.012, "gnomad_AMR_maf": 0.0009252, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 4.396e-05, "gnomad_OTH_maf": 0.0008159, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.009532, "ESP_EA_maf": 0.0 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.498243, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 33427634, "genomic_position_hg38": 33388022, "chromosome": "7", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:41.580946", "ref_allele": "C", "alt_allele": "T", "cdna_change": null, "protein_change": "p.Leu665Phe", "transcript_id": null, "dbsnp_id": "rs116262072", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI087" }, { "type": "Combination", "id": "OLI615" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/180/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/180/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/180/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/180/gene/?format=api" }, "data": { "type": "Gene", "id": "BBS9" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/180/?format=api" } }, { "type": "SmallVariant", "id": "290", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0002, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0014, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 9.153e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0004336, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 4.4e-05, "gnomad_OTH_maf": 0.0004894, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.392279, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 33217157, "genomic_position_hg38": 33177545, "chromosome": "7", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:42.231702", "ref_allele": "G", "alt_allele": "C", "cdna_change": "c.396G>C", "protein_change": "p.Gln132His", "transcript_id": "NM_001348036.1", "dbsnp_id": "rs10255104", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI141" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/290/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/290/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/290/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/290/gene/?format=api" }, "data": { "type": "Gene", "id": "BBS9" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/290/?format=api" } }, { "type": "SmallVariant", "id": "896", "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": 8.050574, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 33376099, "genomic_position_hg38": 33336487, "chromosome": "7", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:45.877898", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1063C>T", "protein_change": "p.Gln355Ter", "transcript_id": "NM_001348036.1", "dbsnp_id": "rs137852858", "variant_effect": "nonsense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI418" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/896/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/896/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/896/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/896/gene/?format=api" }, "data": { "type": "Gene", "id": "BBS9" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/896/?format=api" } }, { "type": "SmallVariant", "id": "2422", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0038, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0194, "gnomad_maf": 0.0008054, "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": 8.829e-06, "gnomad_OTH_maf": 0.0004904, "gnomad_SAS_maf": 0.006471, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 0.376982, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 33397520, "genomic_position_hg38": 33357908, "chromosome": "7", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:55.169830", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1606C>T", "protein_change": "p.Leu536=", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1123" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2422/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2422/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2422/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2422/gene/?format=api" }, "data": { "type": "Gene", "id": "BBS9" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2422/?format=api" } }, { "type": "SmallVariant", "id": "2438", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0048, "KGP_genomes_AFR_maf": 0.0174, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.001, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0009426, "gnomad_AFR_maf": 0.012, "gnomad_AMR_maf": 0.0009252, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 4.396e-05, "gnomad_OTH_maf": 0.0008159, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.009532, "ESP_EA_maf": 0.0 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.498243, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 33427634, "genomic_position_hg38": 33388022, "chromosome": "7", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:55.260897", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1993C>T", "protein_change": "p.Leu665Phe", "transcript_id": "NM_001348036.1", "dbsnp_id": "rs116262072", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1131" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2438/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2438/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2438/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2438/gene/?format=api" }, "data": { "type": "Gene", "id": "BBS9" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2438/?format=api" } }, { "type": "SmallVariant", "id": "2440", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0022, "KGP_genomes_AFR_maf": 0.0068, "KGP_genomes_AMR_maf": 0.0029, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0004772, "gnomad_AFR_maf": 0.00689, "gnomad_AMR_maf": 0.0002024, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0, "gnomad_OTH_maf": 0.0001629, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.006582, "ESP_EA_maf": 0.0 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.086153, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 33573603, "genomic_position_hg38": 33533991, "chromosome": "7", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:55.266918", "ref_allele": "T", "alt_allele": "A", "cdna_change": "c.2336T>A", "protein_change": "p.Leu779Gln", "transcript_id": "NM_198428", "dbsnp_id": "rs142434516", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1133" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2440/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2440/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2440/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2440/gene/?format=api" }, "data": { "type": "Gene", "id": "BBS9" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2440/?format=api" } }, { "type": "SmallVariant", "id": "3046", "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": 2.217974, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 33217137, "genomic_position_hg38": 33177525, "chromosome": "7", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:58.797848", "ref_allele": "A", "alt_allele": "T", "cdna_change": "c.376A>T", "protein_change": "p.Met126Leu", "transcript_id": "NM_198428.3", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1451" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3046/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3046/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3046/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3046/gene/?format=api" }, "data": { "type": "Gene", "id": "BBS9" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3046/?format=api" } }, { "type": "SmallVariant", "id": "3047", "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": 8.390444, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 33407474, "genomic_position_hg38": 33367862, "chromosome": "7", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:58.804352", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1789C>T", "protein_change": "p.Gln597Ter", "transcript_id": "NM_198428.3", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1452" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3047/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3047/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3047/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3047/gene/?format=api" }, "data": { "type": "Gene", "id": "BBS9" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3047/?format=api" } }, { "type": "SmallVariant", "id": "3048", "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": 8.196608, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 33573616, "genomic_position_hg38": 33534004, "chromosome": "7", "annotation_flag": null, "lastmodified": 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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": 10 } }