Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI574/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "1206", "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": 4.006085, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 127262971, "genomic_position_hg38": 124500692, "chromosome": "9", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:47.770633", "ref_allele": "C", "alt_allele": "G", "cdna_change": "c.268G>C", "protein_change": "p.Gly90Arg", "transcript_id": "NM_004959.4", "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI574" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1206/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1206/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1206/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1206/gene/?format=api" }, "data": { "type": "Gene", "id": "NR5A1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1206/?format=api" } }, { "type": "SmallVariant", "id": "1207", "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": 1.592e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 2.891e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 5.437e-05, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 1.76e-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": 3.845828, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 65026851, "genomic_position_hg38": 67030735, "chromosome": "17", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:47.776726", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.715C>T", "protein_change": "p.Arg239Trp", "transcript_id": "NM_014405.3", "dbsnp_id": "rs767219625", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI574" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1207/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1207/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1207/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1207/gene/?format=api" }, "data": { "type": "Gene", "id": "CACNG4" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1207/?format=api" } }, { "type": "SmallVariant", "id": "1208", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0006, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0043, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 3.928e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0001205, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 2.907e-05, "gnomad_OTH_maf": 0.0001776, "gnomad_SAS_maf": 3.455e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.534326, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 13612240, "genomic_position_hg38": 13570740, "chromosome": "3", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:47.782787", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.385G>A", "protein_change": "p.Asp129Asn", "transcript_id": "NM_001998.2", "dbsnp_id": "rs533268036", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI574" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1208/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1208/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1208/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1208/gene/?format=api" }, "data": { "type": "Gene", "id": "FBLN2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1208/?format=api" } }, { "type": "SmallVariant", "id": "1209", "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": 0.0005575, "gnomad_AFR_maf": 0.0001846, "gnomad_AMR_maf": 0.0004066, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0004627, "gnomad_NFE_maf": 0.0009058, "gnomad_OTH_maf": 0.0003269, "gnomad_SAS_maf": 0.0002619, "ESP_AA_maf": 0.000227, "ESP_EA_maf": 0.000814 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.043926, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 201755657, "genomic_position_hg38": 201786529, "chromosome": "1", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:47.788873", "ref_allele": "C", "alt_allele": "A", "cdna_change": "c.2947C>A", "protein_change": "p.Pro983Thr", "transcript_id": "NM_020443.4", "dbsnp_id": "rs145865304", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI574" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1209/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1209/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1209/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1209/gene/?format=api" }, "data": { "type": "Gene", "id": "NAV1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1209/?format=api" } }, { "type": "SmallVariant", "id": "1210", "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": 5.854751, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 67073833, "genomic_position_hg38": 66781495, "chromosome": "15", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:47.794992", "ref_allele": "G", "alt_allele": "GC", "cdna_change": "c.1455dupC", "protein_change": "p.Cys486LeufsTer79", "transcript_id": "NM_005585.4", "dbsnp_id": "NA", "variant_effect": "frameshift" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI574" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1210/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1210/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1210/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1210/gene/?format=api" }, "data": { "type": "Gene", "id": "SMAD6" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1210/?format=api" } }, { "type": "SmallVariant", "id": "1211", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0032, "KGP_genomes_AFR_maf": 0.0015, "KGP_genomes_AMR_maf": 0.0014, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.007, "KGP_genomes_SAS_maf": 0.0061, "gnomad_maf": 0.007148, "gnomad_AFR_maf": 0.001952, "gnomad_AMR_maf": 0.002635, "gnomad_ASJ_maf": 0.01888, "gnomad_EAS_maf": 5.478e-05, "gnomad_FIN_maf": 0.009302, "gnomad_NFE_maf": 0.008897, "gnomad_OTH_maf": 0.008578, "gnomad_SAS_maf": 0.007093, "ESP_AA_maf": 0.001591, "ESP_EA_maf": 0.0071 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.871297, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 139936825, "genomic_position_hg38": 140557240, "chromosome": "5", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:47.801036", "ref_allele": "G", "alt_allele": "C", "cdna_change": "c.94C>G", "protein_change": "p.Gln32Glu", "transcript_id": "NM_001035235.3", "dbsnp_id": "rs35610885", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI574" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1211/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1211/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1211/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1211/gene/?format=api" }, "data": { "type": "Gene", "id": "SRA1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1211/?format=api" } }, { "type": "SmallVariant", "id": "1212", "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": 7.968e-06, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 2.892e-05, "gnomad_ASJ_maf": 9.929e-05, "gnomad_EAS_maf": 0.0, "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": "Possibly Damaging", "cadd_prediction": 1.61685, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 840718, "genomic_position_hg38": 840603, "chromosome": "5", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:47.806960", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.676G>A", "protein_change": "p.Val226Met", "transcript_id": "NM_024786.2", "dbsnp_id": "rs777053369", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI574" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1212/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1212/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1212/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1212/gene/?format=api" }, "data": { "type": "Gene", "id": "ZDHHC11" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1212/?format=api" } }, { "type": "SmallVariant", "id": "1213", "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": 5.244e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 4.65e-05, "gnomad_NFE_maf": 9.81e-05, "gnomad_OTH_maf": 0.0001665, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0002434 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.715424, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 106573591, "genomic_position_hg38": 105561363, "chromosome": "8", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:47.813015", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.302G>A", "protein_change": "p.Gly101Glu", "transcript_id": "NM_012082.3", "dbsnp_id": "rs199605561", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI574" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1213/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1213/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1213/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1213/gene/?format=api" }, "data": { "type": "Gene", "id": "ZFPM2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1213/?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 } }