Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/CYP1B1/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "18", "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": 9.958e-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": 1.117e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 3.55e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 2.978084, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38302189, "genomic_position_hg38": 38075046, "chromosome": "2", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:40.614750", "ref_allele": "C", "alt_allele": "G", "cdna_change": null, "protein_change": "p.Ala115Pro", "transcript_id": null, "dbsnp_id": "rs764338357", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI009" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/18/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/18/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/18/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/18/gene/?format=api" }, "data": { "type": "Gene", "id": "CYP1B1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/18/?format=api" } }, { "type": "SmallVariant", "id": "20", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0042, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.002, "KGP_genomes_SAS_maf": 0.0194, "gnomad_maf": 0.005821, "gnomad_AFR_maf": 0.0001963, "gnomad_AMR_maf": 0.002173, "gnomad_ASJ_maf": 0.02255, "gnomad_EAS_maf": 5.464e-05, "gnomad_FIN_maf": 4.621e-05, "gnomad_NFE_maf": 0.001561, "gnomad_OTH_maf": 0.005927, "gnomad_SAS_maf": 0.03035, "ESP_AA_maf": 0.001141, "ESP_EA_maf": 0.00187 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.897917, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38298394, "genomic_position_hg38": 38071251, "chromosome": "2", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:40.627958", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1103G>A", "protein_change": "p.Arg368His", "transcript_id": "NM_000104.4", "dbsnp_id": "rs79204362", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 3 }, "data": [ { "type": "Combination", "id": "OLI010" }, { "type": "Combination", "id": "OLI169" }, { "type": "Combination", "id": "OLI460" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/20/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/20/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/20/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/20/gene/?format=api" }, "data": { "type": "Gene", "id": "CYP1B1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/20/?format=api" } }, { "type": "SmallVariant", "id": "22", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0104, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0029, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.004, "KGP_genomes_SAS_maf": 0.047, "gnomad_maf": 0.01093, "gnomad_AFR_maf": 0.0009289, "gnomad_AMR_maf": 0.001872, "gnomad_ASJ_maf": 0.01046, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.003077, "gnomad_NFE_maf": 0.007953, "gnomad_OTH_maf": 0.007083, "gnomad_SAS_maf": 0.04987, "ESP_AA_maf": 0.001137, "ESP_EA_maf": 0.005005 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 3.490578, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 38301847, "genomic_position_hg38": 38074704, "chromosome": "2", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:40.641122", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.685G>A", "protein_change": "p.Glu229Lys", "transcript_id": "NM_000104.4", "dbsnp_id": "rs57865060", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI011" }, { "type": "Combination", "id": "OLI012" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/22/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/22/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/22/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/22/gene/?format=api" }, "data": { "type": "Gene", "id": "CYP1B1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/22/?format=api" } }, { "type": "SmallVariant", "id": "1698", "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": 5.121e-05, "gnomad_AFR_maf": 0.0001273, "gnomad_AMR_maf": 0.0001922, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 3.391e-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": 3.233282, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38301996, "genomic_position_hg38": 38074853, "chromosome": "2", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:50.770060", "ref_allele": "GC", "alt_allele": "G", "cdna_change": "c.535del", "protein_change": "p.Ala179ArgfsTer18", "transcript_id": "NM_000104.4", "dbsnp_id": "rs771076928", "variant_effect": "frameshift" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI767" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1698/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1698/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1698/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1698/gene/?format=api" }, "data": { "type": "Gene", "id": "CYP1B1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1698/?format=api" } }, { "type": "SmallVariant", "id": "1699", "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": 0.0002929, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0004919, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0004902, "gnomad_OTH_maf": 0.0001639, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0004657 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.607416, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38298338, "genomic_position_hg38": 38071195, "chromosome": "2", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:50.776446", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1159G>A", "protein_change": "p.Glu387Lys", "transcript_id": "NM_000104.3", "dbsnp_id": "rs55989760", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI767" }, { "type": "Combination", "id": "OLI768" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1699/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1699/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1699/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1699/gene/?format=api" }, "data": { "type": "Gene", "id": "CYP1B1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1699/?format=api" } }, { "type": "SmallVariant", "id": "1701", "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": 6.87e-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": 1.85e-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": 7.640107, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38302015, "genomic_position_hg38": 38074872, "chromosome": "2", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:50.789010", "ref_allele": "C", "alt_allele": "A", "cdna_change": "c.517G>T", "protein_change": "p.Glu173Ter", "transcript_id": "NM_000104.3", "dbsnp_id": "rs72481807", "variant_effect": "nonsense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI768" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1701/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1701/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1701/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1701/gene/?format=api" }, "data": { "type": "Gene", "id": "CYP1B1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1701/?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": 6 } }