Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI1783/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "3728", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0046, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.013, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0099, "KGP_genomes_SAS_maf": 0.0041, "gnomad_maf": 0.01128, "gnomad_AFR_maf": 0.001599, "gnomad_AMR_maf": 0.008904, "gnomad_ASJ_maf": 0.04633, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.003095, "gnomad_NFE_maf": 0.01427, "gnomad_OTH_maf": 0.01645, "gnomad_SAS_maf": 0.008002, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.106312, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 50756540, "genomic_position_hg38": 50722629, "chromosome": "16", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:35.034265", "ref_allele": "G", "alt_allele": "C", "cdna_change": "c.2722G>C", "protein_change": "p.Gly908Arg", "transcript_id": "NM_022162.3", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI1758" }, { "type": "Combination", "id": "OLI1783" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3728/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3728/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3728/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3728/gene/?format=api" }, "data": { "type": "Gene", "id": "NOD2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3728/?format=api" } }, { "type": "SmallVariant", "id": "3729", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0018, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0058, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.005, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.001841, "gnomad_AFR_maf": 0.000123, "gnomad_AMR_maf": 0.002717, "gnomad_ASJ_maf": 0.0133, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0006929, "gnomad_NFE_maf": 0.001627, "gnomad_OTH_maf": 0.003584, "gnomad_SAS_maf": 0.0003593, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": -0.83144, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 3293257, "genomic_position_hg38": 3243257, "chromosome": "16", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:35.054483", "ref_allele": "C", "alt_allele": "A", "cdna_change": "c.2230G>T", "protein_change": "p.Ala744Ser", "transcript_id": "NM_000243.3", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI1758" }, { "type": "Combination", "id": "OLI1783" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3729/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3729/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3729/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3729/gene/?format=api" }, "data": { "type": "Gene", "id": "MEFV" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3729/?format=api" } }, { "type": "SmallVariant", "id": "3739", "attributes": { "frequencies": { "KGP_genomes_maf": 0.006, "KGP_genomes_AFR_maf": 0.0015, "KGP_genomes_AMR_maf": 0.013, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0189, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.01318, "gnomad_AFR_maf": 0.003077, "gnomad_AMR_maf": 0.009022, "gnomad_ASJ_maf": 0.01766, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.01128, "gnomad_NFE_maf": 0.02029, "gnomad_OTH_maf": 0.01808, "gnomad_SAS_maf": 0.003627, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Unknown", "cadd_prediction": 0.685628, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 6442643, "genomic_position_hg38": 6333477, "chromosome": "12", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:35.994051", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.362G>A", "protein_change": "p.Arg121Gln", "transcript_id": "NM_001065.4", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 7 }, "data": [ { "type": "Combination", "id": "OLI1773" }, { "type": "Combination", "id": "OLI1774" }, { "type": "Combination", "id": "OLI1775" }, { "type": "Combination", "id": "OLI1783" }, { "type": "Combination", "id": "OLI1784" }, { "type": "Combination", "id": "OLI1785" }, { "type": "Combination", "id": "OLI1788" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3739/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3739/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3739/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3739/gene/?format=api" }, "data": { "type": "Gene", "id": "TNFRSF1A" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3739/?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 } }