Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/IL10RA/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "270", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0817, "KGP_genomes_AFR_maf": 0.0068, "KGP_genomes_AMR_maf": 0.0865, "KGP_genomes_EAS_maf": 0.0069, "KGP_genomes_EUR_maf": 0.167, "KGP_genomes_SAS_maf": 0.1687, "gnomad_maf": 0.1296, "gnomad_AFR_maf": 0.02498, "gnomad_AMR_maf": 0.05186, "gnomad_ASJ_maf": 0.1325, "gnomad_EAS_maf": 0.002179, "gnomad_FIN_maf": 0.2034, "gnomad_NFE_maf": 0.166, "gnomad_OTH_maf": 0.131, "gnomad_SAS_maf": 0.1607, "ESP_AA_maf": 0.03114, "ESP_EA_maf": 0.1647 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.312001, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 117864063, "genomic_position_hg38": 117993348, "chromosome": "11", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:42.111769", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.475A>G", "protein_change": "p.Ser159Gly", "transcript_id": "NM_001558.3", "dbsnp_id": "rs3135932", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI130" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/270/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/270/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/270/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/270/gene/?format=api" }, "data": { "type": "Gene", "id": "IL10RA" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/270/?format=api" } }, { "type": "SmallVariant", "id": "271", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": 0.8177, "KGP_genomes_AMR_maf": 0.8141, "KGP_genomes_EAS_maf": 0.9931, "KGP_genomes_EUR_maf": 0.6829, "KGP_genomes_SAS_maf": 0.7444, "gnomad_maf": 0.7432, "gnomad_AFR_maf": 0.8045, "gnomad_AMR_maf": 0.8662, "gnomad_ASJ_maf": 0.732, "gnomad_EAS_maf": 0.9966, "gnomad_FIN_maf": 0.6217, "gnomad_NFE_maf": 0.6821, "gnomad_OTH_maf": 0.7279, "gnomad_SAS_maf": 0.7379, "ESP_AA_maf": 0.8082, "ESP_EA_maf": 0.6876 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 0.446922, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 117869670, "genomic_position_hg38": 117998955, "chromosome": "11", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:42.117675", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.1051A>G", "protein_change": "p.Arg351Gly", "transcript_id": "NM_001558.3", "dbsnp_id": "rs2229113", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI130" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/271/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/271/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/271/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/271/gene/?format=api" }, "data": { "type": "Gene", "id": "IL10RA" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/271/?format=api" } }, { "type": "SmallVariant", "id": "3642", "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": 7.158e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0009242, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 8.791e-06, "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": "Benign", "cadd_prediction": 0.969752, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 117859118, "genomic_position_hg38": 117988403, "chromosome": "11", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:31.932009", "ref_allele": "C", "alt_allele": "T", "cdna_change": null, "protein_change": "p.Pro30Leu", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1717" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3642/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3642/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3642/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3642/gene/?format=api" }, "data": { "type": "Gene", "id": "IL10RA" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3642/?format=api" } }, { "type": "SmallVariant", "id": "3647", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0072, "KGP_genomes_AFR_maf": 0.0144, "KGP_genomes_AMR_maf": 0.0086, "KGP_genomes_EAS_maf": 0.0089, "KGP_genomes_EUR_maf": 0.002, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.001809, "gnomad_AFR_maf": 0.01249, "gnomad_AMR_maf": 0.001821, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.007448, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0003164, "gnomad_OTH_maf": 0.002606, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 1.478378, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 117866312, "genomic_position_hg38": 117995597, "chromosome": "11", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:32.098694", "ref_allele": "G", "alt_allele": "A", "cdna_change": null, "protein_change": "p.Val233Met", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1719" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3647/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3647/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3647/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3647/gene/?format=api" }, "data": { "type": "Gene", "id": "IL10RA" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3647/?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 } }