Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/WNT10A/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "323", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0032, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0149, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.001, "gnomad_maf": 0.00191, "gnomad_AFR_maf": 0.0003078, "gnomad_AMR_maf": 0.0001446, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.01582, "gnomad_FIN_maf": 0.0004163, "gnomad_NFE_maf": 0.001047, "gnomad_OTH_maf": 0.001142, "gnomad_SAS_maf": 0.001437, "ESP_AA_maf": 0.0004539, "ESP_EA_maf": 0.001279 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.663114, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 219754840, "genomic_position_hg38": 218890118, "chromosome": "2", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:42.414515", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.511C>T", "protein_change": "p.Arg171Cys", "transcript_id": "NM_025216.2", "dbsnp_id": "rs116998555", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 4 }, "data": [ { "type": "Combination", "id": "OLI159" }, { "type": "Combination", "id": "OLI160" }, { "type": "Combination", "id": "OLI161" }, { "type": "Combination", "id": "OLI164" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/323/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/323/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/323/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/323/gene/?format=api" }, "data": { "type": "Gene", "id": "WNT10A" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/323/?format=api" } }, { "type": "SmallVariant", "id": "327", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0028, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0139, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.002079, "gnomad_AFR_maf": 6.328e-05, "gnomad_AMR_maf": 5.8e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.02754, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 3.546e-05, "gnomad_OTH_maf": 0.0006579, "gnomad_SAS_maf": 0.0001308, "ESP_AA_maf": 0.000227, "ESP_EA_maf": 0.0 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.939693, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 219754966, "genomic_position_hg38": 218890244, "chromosome": "2", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:42.439374", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.637G>A", "protein_change": "p.Gly213Ser", "transcript_id": "NM_025216.2", "dbsnp_id": "rs147680216", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 3 }, "data": [ { "type": "Combination", "id": "OLI162" }, { "type": "Combination", "id": "OLI163" }, { "type": "Combination", "id": "OLI937" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/327/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/327/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/327/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/327/gene/?format=api" }, "data": { "type": "Gene", "id": "WNT10A" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/327/?format=api" } }, { "type": "SmallVariant", "id": "1219", "attributes": { "frequencies": { "KGP_genomes_maf": 0.006, "KGP_genomes_AFR_maf": 0.0015, "KGP_genomes_AMR_maf": 0.0115, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0199, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.01392, "gnomad_AFR_maf": 0.003721, "gnomad_AMR_maf": 0.01062, "gnomad_ASJ_maf": 0.03493, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.004702, "gnomad_NFE_maf": 0.02125, "gnomad_OTH_maf": 0.01627, "gnomad_SAS_maf": 0.001668, "ESP_AA_maf": 0.007269, "ESP_EA_maf": 0.02431 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.929118, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 219755011, "genomic_position_hg38": 218890289, "chromosome": "2", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:47.849507", "ref_allele": "T", "alt_allele": "A", "cdna_change": "c.682T>A", "protein_change": "p.Phe228Ile", "transcript_id": "NM_025216.2", "dbsnp_id": "rs121908120", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 3 }, "data": [ { "type": "Combination", "id": "OLI1243" }, { "type": "Combination", "id": "OLI1244" }, { "type": "Combination", "id": "OLI576" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1219/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1219/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1219/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1219/gene/?format=api" }, "data": { "type": "Gene", "id": "WNT10A" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1219/?format=api" } }, { "type": "SmallVariant", "id": "2027", "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": 2.389e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0002175, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 1.764e-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": 2.491683, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 219747107, "genomic_position_hg38": 218882385, "chromosome": "2", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:52.788647", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.338G>A", "protein_change": "p.Arg113His", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI936" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2027/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2027/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2027/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2027/gene/?format=api" }, "data": { "type": "Gene", "id": "WNT10A" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2027/?format=api" } }, { "type": "SmallVariant", "id": "2033", "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": 1.99e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0002719, "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": "Benign", "cadd_prediction": 2.227015, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 219754828, "genomic_position_hg38": 218890106, "chromosome": "2", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:52.826167", "ref_allele": "G", "alt_allele": "C", "cdna_change": "c.499G>C", "protein_change": "p.Glu167Gln", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI938" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2033/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2033/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2033/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2033/gene/?format=api" }, "data": { "type": "Gene", "id": "WNT10A" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2033/?format=api" } }, { "type": "SmallVariant", "id": "2634", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0006, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.001, "KGP_genomes_EUR_maf": 0.002, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.00086, "gnomad_AFR_maf": 6.153e-05, "gnomad_AMR_maf": 0.0001446, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0004893, "gnomad_FIN_maf": 0.006699, "gnomad_NFE_maf": 0.0004671, "gnomad_OTH_maf": 0.0004889, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.357147, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 219747106, "genomic_position_hg38": 218882384, "chromosome": "2", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:56.300153", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.337C>T", "protein_change": "p.Arg113Cys", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1245" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2634/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2634/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2634/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2634/gene/?format=api" }, "data": { "type": "Gene", "id": "WNT10A" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2634/?format=api" } }, { "type": "SmallVariant", "id": "3678", "attributes": { "frequencies": { "KGP_genomes_maf": 0.006, "KGP_genomes_AFR_maf": 0.0015, "KGP_genomes_AMR_maf": 0.0115, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0199, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.01392, "gnomad_AFR_maf": 0.003721, "gnomad_AMR_maf": 0.01062, "gnomad_ASJ_maf": 0.03493, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.004702, "gnomad_NFE_maf": 0.02125, "gnomad_OTH_maf": 0.01627, "gnomad_SAS_maf": 0.001668, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.929118, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 219755011, "genomic_position_hg38": 218890289, "chromosome": "2", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:33.373744", "ref_allele": "T", "alt_allele": "A", "cdna_change": "c.682T>A", "protein_change": "p.Phe228Ile", "transcript_id": "NM_025216.3", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI1734" }, { "type": "Combination", "id": "OLI1735" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3678/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3678/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3678/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3678/gene/?format=api" }, "data": { "type": "Gene", "id": "WNT10A" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3678/?format=api" } }, { "type": "SmallVariant", "id": "3683", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0028, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0139, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.002079, "gnomad_AFR_maf": 6.328e-05, "gnomad_AMR_maf": 5.8e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.02754, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 3.546e-05, "gnomad_OTH_maf": 0.0006579, "gnomad_SAS_maf": 0.0001308, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.939693, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 219754966, "genomic_position_hg38": 218890244, "chromosome": "2", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:33.536155", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.637G>A", "protein_change": "p.Gly213Ser", "transcript_id": "NM_025216.3", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1737" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3683/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3683/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3683/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3683/gene/?format=api" }, "data": { "type": "Gene", "id": "WNT10A" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3683/?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 } }