Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI1462/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "3069", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0026, "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": 0.0123, "gnomad_maf": 0.004089, "gnomad_AFR_maf": 0.0002462, "gnomad_AMR_maf": 0.0009839, "gnomad_ASJ_maf": 0.008347, "gnomad_EAS_maf": 5.447e-05, "gnomad_FIN_maf": 0.0008327, "gnomad_NFE_maf": 0.003528, "gnomad_OTH_maf": 0.00507, "gnomad_SAS_maf": 0.01483, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.524093, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 103197603, "genomic_position_hg38": 103557156, "chromosome": "7", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:58.914356", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.5618C>T", "protein_change": "p.Thr1873Ile", "transcript_id": "NM_005045", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1462" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3069/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3069/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3069/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3069/gene/?format=api" }, "data": { "type": "Gene", "id": "RELN" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3069/?format=api" } }, { "type": "SmallVariant", "id": "3070", "attributes": { "frequencies": { "KGP_genomes_maf": 0.008, "KGP_genomes_AFR_maf": 0.0287, "KGP_genomes_AMR_maf": 0.0029, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.00188, "gnomad_AFR_maf": 0.025, "gnomad_AMR_maf": 0.001128, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 9.239e-05, "gnomad_NFE_maf": 0.0001411, "gnomad_OTH_maf": 0.001142, "gnomad_SAS_maf": 6.533e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.608888, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 103185751, "genomic_position_hg38": 103545304, "chromosome": "7", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:58.920435", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.6343G>A", "protein_change": "p.Gly2115Ser", "transcript_id": "NM_005045", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1462" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3070/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3070/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3070/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3070/gene/?format=api" }, "data": { "type": "Gene", "id": "RELN" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3070/?format=api" } }, { "type": "SmallVariant", "id": "3071", "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": 0.00114, "gnomad_AFR_maf": 0.0001937, "gnomad_AMR_maf": 0.002028, "gnomad_ASJ_maf": 9.936e-05, "gnomad_EAS_maf": 5.564e-05, "gnomad_FIN_maf": 0.0002784, "gnomad_NFE_maf": 0.001631, "gnomad_OTH_maf": 0.002149, "gnomad_SAS_maf": 0.0001961, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.277802, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 33916136, "genomic_position_hg38": 33623935, "chromosome": "15", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:58.926610", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.2486G>A", "protein_change": "p.Arg829His", "transcript_id": "NM_001036", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1462" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3071/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3071/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3071/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3071/gene/?format=api" }, "data": { "type": "Gene", "id": "RYR3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3071/?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 } }