Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/WNT9B/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "56", "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": 0.0, "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": 0.0, "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": 4.064084, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 44929009, "genomic_position_hg38": 46851643, "chromosome": "17", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:40.860975", "ref_allele": "G", "alt_allele": "GC", "cdna_change": "c.6dupC", "protein_change": "p.Arg2fsTer55", "transcript_id": "NM_003396.3", "dbsnp_id": "rs1291189006", "variant_effect": "frameshift" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI027" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/56/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/56/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/56/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/56/gene/?format=api" }, "data": { "type": "Gene", "id": "WNT9B" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/56/?format=api" } }, { "type": "SmallVariant", "id": "58", "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": 6.459e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0001162, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0003873, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 4.487e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.000227, "ESP_EA_maf": 0.0 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.323893, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 44953983, "genomic_position_hg38": 46876617, "chromosome": "17", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:40.867359", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.973C>T", "protein_change": "p.Arg325Cys", "transcript_id": "NM_003396.2", "dbsnp_id": "rs369957679", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI028" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/58/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/58/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/58/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/58/gene/?format=api" }, "data": { "type": "Gene", "id": "WNT9B" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/58/?format=api" } }, { "type": "SmallVariant", "id": "723", "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": 0.218162, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 44954242, "genomic_position_hg38": 46876876, "chromosome": "17", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:44.808742", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.*158C>T", "protein_change": "None", "transcript_id": "NM_003396.4", "dbsnp_id": "rs1233082195", "variant_effect": "3'-UTR variant" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI344" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/723/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/723/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/723/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/723/gene/?format=api" }, "data": { "type": "Gene", "id": "WNT9B" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/723/?format=api" } }, { "type": "SmallVariant", "id": "754", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0002, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.001, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 2.474e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 3.327e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0002295, "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": null, "pp2_hvar_prediction": null, "cadd_prediction": 0.336409, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 44954069, "genomic_position_hg38": 46876703, "chromosome": "17", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:45.008104", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1059C>T", "protein_change": "p.Tyr353=", "transcript_id": "NM_003396.2", "dbsnp_id": "rs537242221", "variant_effect": "silent" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI351" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/754/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/754/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/754/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/754/gene/?format=api" }, "data": { "type": "Gene", "id": "WNT9B" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/754/?format=api" } }, { "type": "SmallVariant", "id": "1329", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0004, "KGP_genomes_AFR_maf": 0.0015, "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": 2.1e-05, "gnomad_AFR_maf": 0.0001959, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 9.344e-06, "gnomad_OTH_maf": 0.0001733, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 1.694117, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 44949939, "genomic_position_hg38": 46872573, "chromosome": "17", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:48.513740", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.134C>T", "protein_change": "p.Pro45Leu", "transcript_id": "NM_003396.2", "dbsnp_id": "rs530502749", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI604" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1329/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1329/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1329/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1329/gene/?format=api" }, "data": { "type": "Gene", "id": "WNT9B" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1329/?format=api" } }, { "type": "SmallVariant", "id": "2464", "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": 0.0005492, "gnomad_AFR_maf": 0.0001848, "gnomad_AMR_maf": 8.675e-05, "gnomad_ASJ_maf": 9.932e-05, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0001848, "gnomad_NFE_maf": 0.0011, "gnomad_OTH_maf": 0.0003262, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.000814 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.362819, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 44952586, "genomic_position_hg38": 46875220, "chromosome": "17", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:55.411190", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.454G>A", "protein_change": "p.Glu152Lys", "transcript_id": "NM_001320458", "dbsnp_id": "rs149949310", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1144" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2464/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2464/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2464/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2464/gene/?format=api" }, "data": { "type": "Gene", "id": "WNT9B" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2464/?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 } }