Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/CELSR2/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "1519", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0062, "KGP_genomes_AFR_maf": 0.0023, "KGP_genomes_AMR_maf": 0.0173, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0139, "KGP_genomes_SAS_maf": 0.002, "gnomad_maf": 0.007851, "gnomad_AFR_maf": 0.003392, "gnomad_AMR_maf": 0.009805, "gnomad_ASJ_maf": 0.001923, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.003911, "gnomad_NFE_maf": 0.01183, "gnomad_OTH_maf": 0.0138, "gnomad_SAS_maf": 0.00161, "ESP_AA_maf": 0.003635, "ESP_EA_maf": 0.01059 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.032615, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 109801543, "genomic_position_hg38": 109258921, "chromosome": "1", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:49.653429", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.3800A>G", "protein_change": "p.His1267Arg", "transcript_id": "NM_001408.2", "dbsnp_id": "rs138543788", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 5 }, "data": [ { "type": "Combination", "id": "OLI699" }, { "type": "Combination", "id": "OLI701" }, { "type": "Combination", "id": "OLI720" }, { "type": "Combination", "id": "OLI736" }, { "type": "Combination", "id": "OLI746" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1519/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1519/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1519/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1519/gene/?format=api" }, "data": { "type": "Gene", "id": "CELSR2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1519/?format=api" } }, { "type": "SmallVariant", "id": "1536", "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": 4.406e-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": 0.0001125, "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": "Benign", "cadd_prediction": 0.918157, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 109801265, "genomic_position_hg38": 109258643, "chromosome": "1", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:49.758910", "ref_allele": "C", "alt_allele": "G", "cdna_change": "c.3522C>G", "protein_change": "p.Asp1174Glu", "transcript_id": "NM_001408.2", "dbsnp_id": "rs369490352", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI704" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1536/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1536/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1536/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1536/gene/?format=api" }, "data": { "type": "Gene", "id": "CELSR2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1536/?format=api" } }, { "type": "SmallVariant", "id": "1617", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0012, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0014, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.004, "KGP_genomes_SAS_maf": 0.001, "gnomad_maf": 0.003739, "gnomad_AFR_maf": 0.00123, "gnomad_AMR_maf": 0.002688, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 5.437e-05, "gnomad_FIN_maf": 0.001433, "gnomad_NFE_maf": 0.006368, "gnomad_OTH_maf": 0.003424, "gnomad_SAS_maf": 0.001633, "ESP_AA_maf": 0.001362, "ESP_EA_maf": 0.004302 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.553864, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 109794593, "genomic_position_hg38": 109251971, "chromosome": "1", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:50.267113", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1892C>T", "protein_change": "p.Thr631Met", "transcript_id": "NM_001408.2", "dbsnp_id": "rs41279706", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI731" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1617/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1617/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1617/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1617/gene/?format=api" }, "data": { "type": "Gene", "id": "CELSR2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1617/?format=api" } }, { "type": "SmallVariant", "id": "1623", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0012, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0014, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.005, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.00304, "gnomad_AFR_maf": 0.0005557, "gnomad_AMR_maf": 0.001707, "gnomad_ASJ_maf": 0.001096, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0009244, "gnomad_NFE_maf": 0.005357, "gnomad_OTH_maf": 0.002775, "gnomad_SAS_maf": 0.001307, "ESP_AA_maf": 0.0006809, "ESP_EA_maf": 0.00593 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.626677, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 109793077, "genomic_position_hg38": 109250455, "chromosome": "1", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:50.305116", "ref_allele": "C", "alt_allele": "A", "cdna_change": "c.376C>A", "protein_change": "p.Gln126Lys", "transcript_id": "NM_001408.2", "dbsnp_id": "rs62623708", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI734" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1623/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1623/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1623/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1623/gene/?format=api" }, "data": { "type": "Gene", "id": "CELSR2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1623/?format=api" } }, { "type": "SmallVariant", "id": "1650", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0022, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0043, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.006, "KGP_genomes_SAS_maf": 0.002, "gnomad_maf": 0.003378, "gnomad_AFR_maf": 0.0007386, "gnomad_AMR_maf": 0.002256, "gnomad_ASJ_maf": 0.002283, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0009701, "gnomad_NFE_maf": 0.005597, "gnomad_OTH_maf": 0.003424, "gnomad_SAS_maf": 0.001894, "ESP_AA_maf": 0.0009079, "ESP_EA_maf": 0.006628 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.712424, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 109795742, "genomic_position_hg38": 109253120, "chromosome": "1", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:50.480052", "ref_allele": "T", "alt_allele": "A", "cdna_change": "c.3041T>A", "protein_change": "p.Leu1014His", "transcript_id": "NM_001408.2", "dbsnp_id": "rs115856488", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI747" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1650/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1650/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1650/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1650/gene/?format=api" }, "data": { "type": "Gene", "id": "CELSR2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1650/?format=api" } }, { "type": "SmallVariant", "id": "1665", "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": 0.0001791, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0001446, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0003433, "gnomad_OTH_maf": 0.000163, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0001163 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.055829, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 109794437, "genomic_position_hg38": 109251815, "chromosome": "1", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:50.575086", "ref_allele": "G", "alt_allele": "C", "cdna_change": "c.1736G>C", "protein_change": "p.Gly579Ala", "transcript_id": "NM_001408.2", "dbsnp_id": "rs200304391", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI753" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1665/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1665/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1665/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1665/gene/?format=api" }, "data": { "type": "Gene", "id": "CELSR2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1665/?format=api" } }, { "type": "SmallVariant", "id": "1691", "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": 0.002, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.001223, "gnomad_AFR_maf": 0.0004409, "gnomad_AMR_maf": 0.00106, "gnomad_ASJ_maf": 0.0004151, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 9.348e-05, "gnomad_NFE_maf": 0.002193, "gnomad_OTH_maf": 0.001344, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0004539, "ESP_EA_maf": 0.001745 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.03114, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 109815883, "genomic_position_hg38": 109273261, "chromosome": "1", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:50.738432", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.8434C>T", "protein_change": "p.Arg2812Trp", "transcript_id": "NM_001408.2", "dbsnp_id": "rs149683589", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI763" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1691/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1691/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1691/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1691/gene/?format=api" }, "data": { "type": "Gene", "id": "CELSR2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1691/?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": 7 } }