Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI346/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "729", "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": "Tolerated", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 2.390689, "mutationtaster_prediction": null }, "status": "CU", "genomic_position_hg19": 149639181, "genomic_position_hg38": 150470909, "chromosome": "X", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:44.846919", "ref_allele": "G", "alt_allele": "C", "cdna_change": "c.1261G>C", "protein_change": "p.Ala421Pro", "transcript_id": "NM_001177465.3", "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI346" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/729/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/729/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/729/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/729/gene/?format=api" }, "data": { "type": "Gene", "id": "MAMLD1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/729/?format=api" } }, { "type": "SmallVariant", "id": "730", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0018, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0089, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0005575, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 9.934e-05, "gnomad_EAS_maf": 0.007619, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 3.268e-05, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0001185 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 2.781831, "mutationtaster_prediction": null }, "status": "CU", "genomic_position_hg19": 140810966, "genomic_position_hg38": 139889812, "chromosome": "4", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:44.853391", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.1612A>G", "protein_change": "p.Met538Val", "transcript_id": "NM_018717.4", "dbsnp_id": "rs148778901", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI346" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/730/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/730/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/730/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/730/gene/?format=api" }, "data": { "type": "Gene", "id": "MAML3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/730/?format=api" } }, { "type": "SmallVariant", "id": "731", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0002, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.001, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 6.89e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0009245, "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": "Possibly Damaging", "cadd_prediction": 3.621374, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 42012196, "genomic_position_hg38": 41972597, "chromosome": "7", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:44.859857", "ref_allele": "T", "alt_allele": "A", "cdna_change": "c.1843A>T", "protein_change": "p.Thr615Ser", "transcript_id": "NM_000168.5", "dbsnp_id": "rs200913720", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI346" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/731/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/731/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/731/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/731/gene/?format=api" }, "data": { "type": "Gene", "id": "GLI3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/731/?format=api" } }, { "type": "SmallVariant", "id": "732", "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": 1.194e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0001631, "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": "Possibly Damaging", "cadd_prediction": 3.705442, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 42088095, "genomic_position_hg38": 42048496, "chromosome": "7", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:44.866256", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.674C>T", "protein_change": "p.Thr225Ile", "transcript_id": "NM_000168.5", "dbsnp_id": "rs753769482", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI346" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/732/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/732/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/732/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/732/gene/?format=api" }, "data": { "type": "Gene", "id": "GLI3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/732/?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 } }