Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/TBK1/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "790", "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": 8.337e-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": 9.031e-06, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 3.534e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 7.15477, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 64858234, "genomic_position_hg38": 64464454, "chromosome": "12", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:45.226737", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.349C>T", "protein_change": "p.Arg117Ter", "transcript_id": "NM_013254.3", "dbsnp_id": "rs757203783", "variant_effect": "nonsense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI360" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/790/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/790/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/790/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/790/gene/?format=api" }, "data": { "type": "Gene", "id": "TBK1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/790/?format=api" } }, { "type": "SmallVariant", "id": "1388", "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": 5.125119, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 64891507, "genomic_position_hg38": 64497727, "chromosome": "12", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:48.806541", "ref_allele": "C", "alt_allele": "CT", "cdna_change": "c.2040dup", "protein_change": "p.Asn681Ter", "transcript_id": "NM_013254", "dbsnp_id": "NA", "variant_effect": "frameshift" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI641" }, { "type": "Combination", "id": "OLI644" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1388/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1388/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1388/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1388/gene/?format=api" }, "data": { "type": "Gene", "id": "TBK1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1388/?format=api" } }, { "type": "SmallVariant", "id": "1390", "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": 5.817519, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 64883824, "genomic_position_hg38": 64490044, "chromosome": "12", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:48.820469", "ref_allele": "T", "alt_allele": "G", "cdna_change": "c.1445_1446delAT", "protein_change": "p.Tyr482Ter", "transcript_id": "NM_013254", "dbsnp_id": "rs1173002080", "variant_effect": "nonsense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI642" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1390/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1390/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1390/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1390/gene/?format=api" }, "data": { "type": "Gene", "id": "TBK1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1390/?format=api" } }, { "type": "SmallVariant", "id": "1392", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0006, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.003, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 5.97e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0007072, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 1.759e-05, "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": 4.227297, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 64895141, "genomic_position_hg38": 64501361, "chromosome": "12", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:48.834069", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.2170C>T", "protein_change": "p.Arg724Cys", "transcript_id": "NM_013254.3", "dbsnp_id": "rs185524052", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI643" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1392/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1392/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1392/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1392/gene/?format=api" }, "data": { "type": "Gene", "id": "TBK1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1392/?format=api" } }, { "type": "SmallVariant", "id": "1813", "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": 2.109514, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 64890967, "genomic_position_hg38": 64497187, "chromosome": "12", "annotation_flag": "manually_corrected", "lastmodified": "2023-06-06T16:57:51.450273", "ref_allele": "GTTA", "alt_allele": "G", "cdna_change": "c.1892_1894del", "protein_change": "p.Leu631del", "transcript_id": "NM_013254.4", "dbsnp_id": "NA", "variant_effect": "deletion" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI826" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1813/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1813/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1813/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1813/gene/?format=api" }, "data": { "type": "Gene", "id": "TBK1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1813/?format=api" } }, { "type": "SmallVariant", "id": "3419", "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": null, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 64882265, "genomic_position_hg38": 64488485, "chromosome": "12", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:24.784478", "ref_allele": "TA", "alt_allele": "T", "cdna_change": "c.1341-2delA", "protein_change": null, "transcript_id": "NM_013254.4", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1622" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3419/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3419/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3419/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3419/gene/?format=api" }, "data": { "type": "Gene", "id": "TBK1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3419/?format=api" } }, { "type": "SmallVariant", "id": "3421", "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": 7.966e-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": 1.762e-05, "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": 6.795062, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 64878159, "genomic_position_hg38": 64484379, "chromosome": "12", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:24.910612", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1069C>T", "protein_change": "p.Arg357Ter", "transcript_id": "NM_013254.4", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1624" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3421/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3421/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3421/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3421/gene/?format=api" }, "data": { "type": "Gene", "id": "TBK1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3421/?format=api" } }, { "type": "SmallVariant", "id": "3424", "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": 5.644203, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 64854110, "genomic_position_hg38": 64460330, "chromosome": "12", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:25.094601", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.228+1G>A", "protein_change": null, "transcript_id": "NM_013254.4", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1627" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3424/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3424/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3424/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3424/gene/?format=api" }, "data": { "type": "Gene", "id": "TBK1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3424/?format=api" } }, { "type": "SmallVariant", "id": "3602", "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": 3.629e-05, "gnomad_AFR_maf": 7.763e-05, "gnomad_AMR_maf": 9.033e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 4.569e-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": "Damaging", "cadd_prediction": 4.190077, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 64889553, "genomic_position_hg38": 64495773, "chromosome": "12", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:30.561962", "ref_allele": "G", "alt_allele": "A", "cdna_change": null, "protein_change": "p.Arg573His", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1699" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3602/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3602/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3602/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3602/gene/?format=api" }, "data": { "type": "Gene", "id": "TBK1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3602/?format=api" } }, { "type": "SmallVariant", "id": "3644", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0002, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.001, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 1.331e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0001951, "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": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.46475, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 64879718, "genomic_position_hg38": 64485938, "chromosome": "12", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:32.006247", "ref_allele": "G", "alt_allele": "C", "cdna_change": null, "protein_change": "p.Val421Leu", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1718" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3644/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3644/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3644/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3644/gene/?format=api" }, "data": { "type": "Gene", "id": "TBK1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3644/?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": 10 } }