Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/BMP15/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "190", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0358, "KGP_genomes_AFR_maf": 0.1286, "KGP_genomes_AMR_maf": 0.0095, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0013, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.009278, "gnomad_AFR_maf": 0.1143, "gnomad_AMR_maf": 0.005596, "gnomad_ASJ_maf": 0.0009602, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0001332, "gnomad_OTH_maf": 0.002558, "gnomad_SAS_maf": 0.0002305, "ESP_AA_maf": 0.1155, "ESP_EA_maf": 0.0001487 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 0.996889, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 50653796, "genomic_position_hg38": 50910796, "chromosome": "X", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:41.636090", "ref_allele": "A", "alt_allele": "C", "cdna_change": "c.13A>C", "protein_change": "p.Ser5Arg", "transcript_id": "NM_005448.2", "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI092" }, { "type": "Combination", "id": "OLI095" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/190/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/190/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/190/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/190/gene/?format=api" }, "data": { "type": "Gene", "id": "BMP15" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/190/?format=api" } }, { "type": "SmallVariant", "id": "2320", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0005, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0026, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0006997, "gnomad_AFR_maf": 0.0002948, "gnomad_AMR_maf": 0.0002537, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.001449, "gnomad_OTH_maf": 0.0002628, "gnomad_SAS_maf": 0.0002574, "ESP_AA_maf": 0.0002612, "ESP_EA_maf": 0.001785 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 2.21811, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 50653985, "genomic_position_hg38": 50910985, "chromosome": "X", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:54.552909", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.202C>T", "protein_change": "p.Arg68Trp", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1060" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2320/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2320/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2320/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2320/gene/?format=api" }, "data": { "type": "Gene", "id": "BMP15" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2320/?format=api" } }, { "type": "SmallVariant", "id": "3664", "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": 6.823e-06, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 8.909e-05, "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": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 2.880026, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 50653991, "genomic_position_hg38": 50910991, "chromosome": "X", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:32.730714", "ref_allele": "A", "alt_allele": "C", "cdna_change": "c.208A>C", "protein_change": "p.Met70Leu", "transcript_id": "NM_005448.2", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1725" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3664/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3664/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3664/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3664/gene/?format=api" }, "data": { "type": "Gene", "id": "BMP15" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3664/?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": 3 } }