Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI1520/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "3187", "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": 2.402878, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 31014108, "genomic_position_hg38": 30974493, "chromosome": "7", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:59.601233", "ref_allele": "A", "alt_allele": "C", "cdna_change": "c.812+4A>C", "protein_change": null, "transcript_id": "NM_000823", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1520" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3187/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3187/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3187/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3187/gene/?format=api" }, "data": { "type": "Gene", "id": "GHRHR" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3187/?format=api" } }, { "type": "SmallVariant", "id": "3188", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0002, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0014, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0002228, "gnomad_AFR_maf": 0.0001847, "gnomad_AMR_maf": 2.893e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 9.246e-05, "gnomad_NFE_maf": 0.0004047, "gnomad_OTH_maf": 0.000163, "gnomad_SAS_maf": 9.799e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.014826, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 61539079, "genomic_position_hg38": 61771607, "chromosome": "11", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:59.607300", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.848C>T", "protein_change": "p.Thr283Ile", "transcript_id": "NM_001127392", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1520" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3188/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3188/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3188/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3188/gene/?format=api" }, "data": { "type": "Gene", "id": "MYRF" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3188/?format=api" } }, { "type": "SmallVariant", "id": "3189", "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": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.809705, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 177421147, "genomic_position_hg38": 177994146, "chromosome": "5", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:59.613455", "ref_allele": "C", "alt_allele": "A", "cdna_change": "c.302G>T", "protein_change": "p.Ser101Ile", "transcript_id": "NM_006261", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1520" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3189/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3189/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3189/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3189/gene/?format=api" }, "data": { "type": "Gene", "id": "PROP1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3189/?format=api" } }, { "type": "SmallVariant", "id": "3190", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0012, "KGP_genomes_AFR_maf": 0.0038, "KGP_genomes_AMR_maf": 0.0014, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0002267, "gnomad_AFR_maf": 0.001169, "gnomad_AMR_maf": 0.0001156, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.001359, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 6.155e-05, "gnomad_OTH_maf": 0.000163, "gnomad_SAS_maf": 3.266e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.287644, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 123353298, "genomic_position_hg38": 121593784, "chromosome": "10", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:59.619601", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.34G>A", "protein_change": "p.Val12Met", "transcript_id": "NM_000141", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1520" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3190/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3190/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3190/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3190/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3190/?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 } }