Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/CACNA1C/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "1024", "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": 0.0, "KGP_genomes_SAS_maf": 0.001, "gnomad_maf": 0.0003451, "gnomad_AFR_maf": 0.0004144, "gnomad_AMR_maf": 5.861e-05, "gnomad_ASJ_maf": 0.0005109, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0008849, "gnomad_NFE_maf": 0.0002315, "gnomad_OTH_maf": 0.000339, "gnomad_SAS_maf": 0.000825, "ESP_AA_maf": 0.0002608, "ESP_EA_maf": 0.0004883 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.853236, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 2797868, "genomic_position_hg38": 2688702, "chromosome": "12", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:46.657658", "ref_allele": "G", "alt_allele": "A", "cdna_change": null, "protein_change": null, "transcript_id": null, "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI476" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1024/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1024/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1024/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1024/gene/?format=api" }, "data": { "type": "Gene", "id": "CACNA1C" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1024/?format=api" } }, { "type": "SmallVariant", "id": "1030", "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": 4.034819, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 2566833, "genomic_position_hg38": 2457667, "chromosome": "12", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:46.693715", "ref_allele": "C", "alt_allele": "T", "cdna_change": null, "protein_change": null, "transcript_id": null, "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI480" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1030/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1030/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1030/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1030/gene/?format=api" }, "data": { "type": "Gene", "id": "CACNA1C" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1030/?format=api" } }, { "type": "SmallVariant", "id": "1032", "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": 5.798e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 3.383e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0001069, "gnomad_OTH_maf": 0.0002075, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.727556, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 2788616, "genomic_position_hg38": 2679450, "chromosome": "12", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:46.705938", "ref_allele": "G", "alt_allele": "A", "cdna_change": null, "protein_change": null, "transcript_id": null, "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI481" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1032/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1032/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1032/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1032/gene/?format=api" }, "data": { "type": "Gene", "id": "CACNA1C" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1032/?format=api" } }, { "type": "SmallVariant", "id": "1034", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0016, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0014, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.007, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.002328, "gnomad_AFR_maf": 0.001028, "gnomad_AMR_maf": 0.001138, "gnomad_ASJ_maf": 0.003578, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0002926, "gnomad_NFE_maf": 0.004378, "gnomad_OTH_maf": 0.002437, "gnomad_SAS_maf": 0.0003494, "ESP_AA_maf": 0.0007378, "ESP_EA_maf": 0.004679 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 3.089182, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 2694651, "genomic_position_hg38": 2585485, "chromosome": "12", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:46.718281", "ref_allele": "C", "alt_allele": "T", "cdna_change": null, "protein_change": null, "transcript_id": null, "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI482" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1034/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1034/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1034/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1034/gene/?format=api" }, "data": { "type": "Gene", "id": "CACNA1C" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1034/?format=api" } }, { "type": "SmallVariant", "id": "1041", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0086, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0605, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.001, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0102, "gnomad_AFR_maf": 0.0005818, "gnomad_AMR_maf": 0.06974, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 5.564e-05, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0006837, "gnomad_OTH_maf": 0.006457, "gnomad_SAS_maf": 0.0001635, "ESP_AA_maf": 0.001257, "ESP_EA_maf": 0.001437 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.291406, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 2794993, "genomic_position_hg38": 2685827, "chromosome": "12", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:46.762249", "ref_allele": "C", "alt_allele": "T", "cdna_change": null, "protein_change": null, "transcript_id": null, "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI486" }, { "type": "Combination", "id": "OLI490" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1041/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1041/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1041/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1041/gene/?format=api" }, "data": { "type": "Gene", "id": "CACNA1C" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1041/?format=api" } }, { "type": "SmallVariant", "id": "1048", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0006, "KGP_genomes_AFR_maf": 0.0023, "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": 6.59e-05, "gnomad_AFR_maf": 0.0007592, "gnomad_AMR_maf": 8.819e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 5.626e-05, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 9.121e-06, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.001686, "ESP_EA_maf": 0.0001194 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.662591, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 2788667, "genomic_position_hg38": 2679501, "chromosome": "12", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:46.806001", "ref_allele": "G", "alt_allele": "A", "cdna_change": null, "protein_change": null, "transcript_id": null, "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI492" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1048/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1048/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1048/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1048/gene/?format=api" }, "data": { "type": "Gene", "id": "CACNA1C" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1048/?format=api" } }, { "type": "SmallVariant", "id": "1050", "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": 0.0, "KGP_genomes_SAS_maf": 0.001, "gnomad_maf": 3.358e-05, "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": 5.448e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 8.24e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.283269, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 2694639, "genomic_position_hg38": 2585473, "chromosome": "12", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:46.818333", "ref_allele": "G", "alt_allele": "A", "cdna_change": null, "protein_change": null, "transcript_id": null, "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI493" }, { "type": "Combination", "id": "OLI494" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1050/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1050/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1050/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1050/gene/?format=api" }, "data": { "type": "Gene", "id": "CACNA1C" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1050/?format=api" } }, { "type": "SmallVariant", "id": "1394", "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": -0.925516, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 2791769, "genomic_position_hg38": 2682603, "chromosome": "12", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:48.847435", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.5747A>G", "protein_change": "p.Gln1916Arg", "transcript_id": "NM_001129830.2", "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI645" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1394/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1394/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1394/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1394/gene/?format=api" }, "data": { "type": "Gene", "id": "CACNA1C" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1394/?format=api" } }, { "type": "SmallVariant", "id": "1403", "attributes": { "frequencies": { "KGP_genomes_maf": 0.016, "KGP_genomes_AFR_maf": 0.0598, "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": 0.003685, "gnomad_AFR_maf": 0.05377, "gnomad_AMR_maf": 0.003424, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0001395, "gnomad_OTH_maf": 0.001939, "gnomad_SAS_maf": 7.004e-05, "ESP_AA_maf": 0.0438, "ESP_EA_maf": 0.0002397 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.345989, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 2788901, "genomic_position_hg38": 2679735, "chromosome": "12", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:48.908643", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.5383G>A", "protein_change": "p.Gly1795Arg", "transcript_id": "NM_001129840.2", "dbsnp_id": "rs111298509", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI647" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1403/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1403/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1403/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1403/gene/?format=api" }, "data": { "type": "Gene", "id": "CACNA1C" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1403/?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": 9 } }