Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI937/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "2028", "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": "Damaging", "cadd_prediction": 3.95343, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 12356281, "genomic_position_hg38": 12203347, "chromosome": "12", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:52.794846", "ref_allele": "A", "alt_allele": "C", "cdna_change": "c.503T>G", "protein_change": "p.Met168Arg", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI937" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2028/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2028/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2028/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2028/gene/?format=api" }, "data": { "type": "Gene", "id": "LRP6" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2028/?format=api" } }, { "type": "SmallVariant", "id": "2029", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0022, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0109, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0008791, "gnomad_AFR_maf": 0.0001846, "gnomad_AMR_maf": 5.782e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.01153, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0, "gnomad_OTH_maf": 0.0003262, "gnomad_SAS_maf": 6.534e-05, "ESP_AA_maf": 0.000227, "ESP_EA_maf": 0.0 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 3.107078, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 12312728, "genomic_position_hg38": 12159794, "chromosome": "12", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:52.801072", "ref_allele": "G", "alt_allele": "C", "cdna_change": "c.2450C>G", "protein_change": "p.Ser817Cys", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI937" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2029/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2029/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2029/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2029/gene/?format=api" }, "data": { "type": "Gene", "id": "LRP6" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2029/?format=api" } }, { "type": "SmallVariant", "id": "2030", "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": 5.571e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0005982, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 1.759e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 3.267e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.404062, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 12278346, "genomic_position_hg38": 12125412, "chromosome": "12", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:52.807188", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.4333A>G", "protein_change": "p.Met1445Val", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI937" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2030/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2030/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2030/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2030/gene/?format=api" }, "data": { "type": "Gene", "id": "LRP6" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2030/?format=api" } }, { "type": "SmallVariant", "id": "327", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0028, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0139, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.002079, "gnomad_AFR_maf": 6.328e-05, "gnomad_AMR_maf": 5.8e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.02754, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 3.546e-05, "gnomad_OTH_maf": 0.0006579, "gnomad_SAS_maf": 0.0001308, "ESP_AA_maf": 0.000227, "ESP_EA_maf": 0.0 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.939693, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 219754966, "genomic_position_hg38": 218890244, "chromosome": "2", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:42.439374", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.637G>A", "protein_change": "p.Gly213Ser", "transcript_id": "NM_025216.2", "dbsnp_id": "rs147680216", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 3 }, "data": [ { "type": "Combination", "id": "OLI162" }, { "type": "Combination", "id": "OLI163" }, { "type": "Combination", "id": "OLI937" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/327/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/327/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/327/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/327/gene/?format=api" }, "data": { "type": "Gene", "id": "WNT10A" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/327/?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 } }