Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/SHROOM2/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "1594", "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": 6.079e-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": 1.382e-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": "Possibly Damaging", "cadd_prediction": 2.725615, "mutationtaster_prediction": null }, "status": "CU", "genomic_position_hg19": 9859044, "genomic_position_hg38": 9891004, "chromosome": "X", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:50.123130", "ref_allele": "C", "alt_allele": "A", "cdna_change": "c.345C>A", "protein_change": "p.His115Gln", "transcript_id": "NM_001649.3", "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI723" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1594/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1594/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1594/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1594/gene/?format=api" }, "data": { "type": "Gene", "id": "SHROOM2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1594/?format=api" } }, { "type": "SmallVariant", "id": "1636", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0019, "KGP_genomes_AFR_maf": 0.001, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0052, "KGP_genomes_SAS_maf": 0.0028, "gnomad_maf": 0.005525, "gnomad_AFR_maf": 0.001264, "gnomad_AMR_maf": 0.0008647, "gnomad_ASJ_maf": 0.009778, "gnomad_EAS_maf": 7.439e-05, "gnomad_FIN_maf": 0.01127, "gnomad_NFE_maf": 0.007904, "gnomad_OTH_maf": 0.005522, "gnomad_SAS_maf": 0.002554, "ESP_AA_maf": 0.001825, "ESP_EA_maf": 0.008176 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.231252, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 9907369, "genomic_position_hg38": 9939329, "chromosome": "X", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:50.389447", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.4274C>T", "protein_change": "p.Ser1425Leu", "transcript_id": "NM_001649.3", "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI740" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1636/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1636/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1636/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1636/gene/?format=api" }, "data": { "type": "Gene", "id": "SHROOM2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1636/?format=api" } }, { "type": "SmallVariant", "id": "1667", "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": 1.809e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 3.848e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 2.767e-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": 4.060671, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 9914787, "genomic_position_hg38": 9946747, "chromosome": "X", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:50.587602", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.4661G>A", "protein_change": "p.Arg1554His", "transcript_id": "NM_001649.3", "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI753" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1667/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1667/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1667/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1667/gene/?format=api" }, "data": { "type": "Gene", "id": "SHROOM2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1667/?format=api" } }, { "type": "SmallVariant", "id": "2232", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0013, "KGP_genomes_AFR_maf": 0.001, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0052, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.003457, "gnomad_AFR_maf": 0.0004566, "gnomad_AMR_maf": 0.0007658, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.01564, "gnomad_NFE_maf": 0.004052, "gnomad_OTH_maf": 0.005526, "gnomad_SAS_maf": 0.0001049, "ESP_AA_maf": 0.0005215, "ESP_EA_maf": 0.003121 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.556686, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 9862579, "genomic_position_hg38": 9894539, "chromosome": "X", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:54.017733", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.631G>A", "protein_change": "p.Gly211Ser", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1032" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2232/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2232/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2232/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2232/gene/?format=api" }, "data": { "type": "Gene", "id": "SHROOM2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2232/?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": 4 } }