Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/KCNQ1/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "197", "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": 3.67533, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 2604765, "genomic_position_hg38": 2583535, "chromosome": "11", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:41.678135", "ref_allele": "C", "alt_allele": "A", "cdna_change": "c.1022C>A", "protein_change": "p.Ala341Glu", "transcript_id": "NM_000218.2", "dbsnp_id": "rs12720459", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI096" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/197/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/197/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/197/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/197/gene/?format=api" }, "data": { "type": "Gene", "id": "KCNQ1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/197/?format=api" } }, { "type": "SmallVariant", "id": "394", "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": 3.431045, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 2593319, "genomic_position_hg38": 2572089, "chromosome": "11", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:42.836394", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.760G>A", "protein_change": "p.Val254Met", "transcript_id": "NM_000218.2", "dbsnp_id": "rs120074179", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI202" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/394/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/394/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/394/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/394/gene/?format=api" }, "data": { "type": "Gene", "id": "KCNQ1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/394/?format=api" } }, { "type": "SmallVariant", "id": "792", "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": 4.293988, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 2591941, "genomic_position_hg38": 2570711, "chromosome": "11", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:45.232992", "ref_allele": "CT", "alt_allele": "C", "cdna_change": "c.562delT", "protein_change": "p.Trp188fs", "transcript_id": "NM_000218.3", "dbsnp_id": "rs397508116", "variant_effect": "frameshift" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI361" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/792/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/792/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/792/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/792/gene/?format=api" }, "data": { "type": "Gene", "id": "KCNQ1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/792/?format=api" } }, { "type": "SmallVariant", "id": "794", "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": 4.162184, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 2593287, "genomic_position_hg38": 2572057, "chromosome": "11", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:45.245659", "ref_allele": "G", "alt_allele": "C", "cdna_change": "c.728G>C", "protein_change": "p.Arg243Pro", "transcript_id": "NM_000218.2", "dbsnp_id": "rs120074196", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI362" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/794/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/794/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/794/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/794/gene/?format=api" }, "data": { "type": "Gene", "id": "KCNQ1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/794/?format=api" } }, { "type": "SmallVariant", "id": "946", "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": 0.0001034, "gnomad_AFR_maf": 6.154e-05, "gnomad_AMR_maf": 8.674e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 4.619e-05, "gnomad_NFE_maf": 0.0001759, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 3.266e-05, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0001163 }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 7.526091, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 2790111, "genomic_position_hg38": 2768881, "chromosome": "11", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:46.189791", "ref_allele": "C", "alt_allele": "T", "cdna_change": null, "protein_change": "p.Arg518Ter", "transcript_id": null, "dbsnp_id": "rs17215500", "variant_effect": "nonsense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI445" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/946/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/946/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/946/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/946/gene/?format=api" }, "data": { "type": "Gene", "id": "KCNQ1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/946/?format=api" } }, { "type": "SmallVariant", "id": "1144", "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": 1.594e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 2.893e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 2.641e-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": "Possibly Damaging", "cadd_prediction": 2.747182, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 2799221, "genomic_position_hg38": 2777991, "chromosome": "11", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:47.397604", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.1748G>A", "protein_change": "p.Arg583His", "transcript_id": "NM_000218.2", "dbsnp_id": "rs199473482", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI549" }, { "type": "Combination", "id": "OLI550" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1144/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1144/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1144/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1144/gene/?format=api" }, "data": { "type": "Gene", "id": "KCNQ1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1144/?format=api" } }, { "type": "SmallVariant", "id": "2585", "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": 3.79106, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 2604765, "genomic_position_hg38": 2583535, "chromosome": "11", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:56.001947", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1022C>T", "protein_change": "p.Ala341Val", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1216" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2585/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2585/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2585/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2585/gene/?format=api" }, "data": { "type": "Gene", "id": "KCNQ1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2585/?format=api" } }, { "type": "SmallVariant", "id": "2587", "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": 4.006e-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": 8.861e-06, "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": 3.896806, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 2591882, "genomic_position_hg38": 2570652, "chromosome": "11", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:56.013869", "ref_allele": "G", "alt_allele": "C", "cdna_change": "c.502G>C", "protein_change": "p.Gly168Arg", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1217" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2587/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2587/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2587/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2587/gene/?format=api" }, "data": { "type": "Gene", "id": "KCNQ1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2587/?format=api" } }, { "type": "SmallVariant", "id": "2589", "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": 3.758645, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 2604678, "genomic_position_hg38": 2583448, "chromosome": "11", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:56.025765", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.935C>T", "protein_change": "p.Thr312Ile", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1218" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2589/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2589/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2589/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2589/gene/?format=api" }, "data": { "type": "Gene", "id": "KCNQ1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2589/?format=api" } }, { "type": "SmallVariant", "id": "2590", "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": 4.009e-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": 8.848e-06, "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": 4.201184, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 2591949, "genomic_position_hg38": 2570719, "chromosome": "11", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:56.031871", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.569G>A", "protein_change": "p.Arg190Gln", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1219" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2590/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2590/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2590/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2590/gene/?format=api" }, "data": { "type": "Gene", "id": "KCNQ1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2590/?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 } }