Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/CACNA1H/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "653", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0004, "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": 0.002, "gnomad_maf": 0.002255, "gnomad_AFR_maf": 0.001264, "gnomad_AMR_maf": 0.001125, "gnomad_ASJ_maf": 0.003799, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0004446, "gnomad_NFE_maf": 0.003453, "gnomad_OTH_maf": 0.00316, "gnomad_SAS_maf": 0.001851, "ESP_AA_maf": 0.000947, "ESP_EA_maf": 0.004651 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.465961, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 1256259, "genomic_position_hg38": 1206259, "chromosome": "16", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:44.353093", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.2759C>T", "protein_change": "p.Thr920Met", "transcript_id": "NM_021098.2", "dbsnp_id": "rs59052554", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI330" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/653/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/653/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/653/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/653/gene/?format=api" }, "data": { "type": "Gene", "id": "CACNA1H" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/653/?format=api" } }, { "type": "SmallVariant", "id": "674", "attributes": { "frequencies": { "KGP_genomes_maf": 0.002, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0014, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.006, "KGP_genomes_SAS_maf": 0.0031, "gnomad_maf": 0.005013, "gnomad_AFR_maf": 0.001301, "gnomad_AMR_maf": 0.002114, "gnomad_ASJ_maf": 0.0007622, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.004346, "gnomad_NFE_maf": 0.007966, "gnomad_OTH_maf": 0.006669, "gnomad_SAS_maf": 0.004264, "ESP_AA_maf": 0.001947, "ESP_EA_maf": 0.00798 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 1.941973, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 1263819, "genomic_position_hg38": 1213819, "chromosome": "16", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:44.493345", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.4817C>T", "protein_change": "p.Thr1606Met", "transcript_id": "NM_021098.2", "dbsnp_id": "rs59286323", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI332" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/674/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/674/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/674/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/674/gene/?format=api" }, "data": { "type": "Gene", "id": "CACNA1H" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/674/?format=api" } }, { "type": "SmallVariant", "id": "690", "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": 2.169e-05, "gnomad_AFR_maf": 7.105e-05, "gnomad_AMR_maf": 5.84e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 9.35e-06, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 3.293e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.577967, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 1259359, "genomic_position_hg38": 1209359, "chromosome": "16", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:44.597761", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.3691C>T", "protein_change": "p.Arg1231Cys", "transcript_id": "NM_021098.2", "dbsnp_id": "rs781510850", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI334" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/690/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/690/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/690/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/690/gene/?format=api" }, "data": { "type": "Gene", "id": "CACNA1H" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/690/?format=api" } }, { "type": "SmallVariant", "id": "1163", "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": 4.346e-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": 9.713e-06, "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": "Possibly Damaging", "cadd_prediction": 2.766163, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 1250335, "genomic_position_hg38": 1200335, "chromosome": "16", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:47.517240", "ref_allele": "C", "alt_allele": "G", "cdna_change": "c.883C>G", "protein_change": "p.Arg295Gly", "transcript_id": "NM_021098.2", "dbsnp_id": "rs1254291549", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI557" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1163/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1163/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1163/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1163/gene/?format=api" }, "data": { "type": "Gene", "id": "CACNA1H" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1163/?format=api" } }, { "type": "SmallVariant", "id": "2061", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0002, "KGP_genomes_AFR_maf": 0.0, "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": 0.0003253, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 9.954e-05, "gnomad_EAS_maf": 0.0003338, "gnomad_FIN_maf": 0.0002327, "gnomad_NFE_maf": 0.0005759, "gnomad_OTH_maf": 0.0001652, "gnomad_SAS_maf": 9.803e-05, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0008191 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.431011, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 1248684, "genomic_position_hg38": 1198684, "chromosome": "16", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:52.993662", "ref_allele": "T", "alt_allele": "G", "cdna_change": "c.713T>G", "protein_change": "p.Phe238Cys", "transcript_id": "NM_001005407", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI954" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2061/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2061/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2061/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2061/gene/?format=api" }, "data": { "type": "Gene", "id": "CACNA1H" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2061/?format=api" } }, { "type": "SmallVariant", "id": "2070", "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": 2.422e-05, "gnomad_AFR_maf": 6.519e-05, "gnomad_AMR_maf": 5.806e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 1.787e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 3.272e-05, "ESP_AA_maf": 0.0002521, "ESP_EA_maf": 0.0 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.654009, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 1257410, "genomic_position_hg38": 1207410, "chromosome": "16", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:53.024771", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.3043G>A", "protein_change": "p.Val1015Met", "transcript_id": "NM_001005407", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI958" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2070/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2070/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2070/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2070/gene/?format=api" }, "data": { "type": "Gene", "id": "CACNA1H" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2070/?format=api" } }, { "type": "SmallVariant", "id": "3065", "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": 4.890438, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 1257119, "genomic_position_hg38": 1207119, "chromosome": "16", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:58.889917", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.2907+1G>A", "protein_change": null, "transcript_id": "NM_021098", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1460" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3065/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3065/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3065/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3065/gene/?format=api" }, "data": { "type": "Gene", "id": "CACNA1H" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3065/?format=api" } }, { "type": "SmallVariant", "id": "3091", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0006, "KGP_genomes_AFR_maf": 0.0015, "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": 8.436e-05, "gnomad_AFR_maf": 0.001364, "gnomad_AMR_maf": 4.093e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 1.922e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 4.452e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 1.712031, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 1251958, "genomic_position_hg38": 1201958, "chromosome": "16", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:59.041652", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.1508G>A", "protein_change": "p.Arg503His", "transcript_id": "NM_021098", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1468" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3091/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3091/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3091/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3091/gene/?format=api" }, "data": { "type": "Gene", "id": "CACNA1H" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3091/?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": 8 } }