Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI1713/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "3633", "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": 0.0001432, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.001848, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 8.795e-06, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 3.266e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 3.412675, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 151203684, "genomic_position_hg38": 150282532, "chromosome": "4", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:31.605155", "ref_allele": "A", "alt_allele": "G", "cdna_change": null, "protein_change": "p.Ile2744Thr", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1713" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3633/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3633/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3633/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3633/gene/?format=api" }, "data": { "type": "Gene", "id": "LRBA" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3633/?format=api" } }, { "type": "SmallVariant", "id": "3634", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0006, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.003, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0001711, "gnomad_AFR_maf": 0.0001846, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.001849, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.000196, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.296375, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 9780045, "genomic_position_hg38": 9719987, "chromosome": "1", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:31.621575", "ref_allele": "C", "alt_allele": "T", "cdna_change": null, "protein_change": "p.Arg408Cys", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1713" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3634/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3634/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3634/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3634/gene/?format=api" }, "data": { "type": "Gene", "id": "PIK3CD" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3634/?format=api" } }, { "type": "SmallVariant", "id": "3635", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0006, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.002, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.001, "gnomad_maf": 0.0005389, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 2.906e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.006136, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 8.875e-06, "gnomad_OTH_maf": 0.0003312, "gnomad_SAS_maf": 0.0006545, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.06491, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 59126891, "genomic_position_hg38": 58661219, "chromosome": "1", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:31.638121", "ref_allele": "G", "alt_allele": "A", "cdna_change": null, "protein_change": "p.Pro760Leu", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI1713" }, { "type": "Combination", "id": "OLI1714" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3635/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3635/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3635/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3635/gene/?format=api" }, "data": { "type": "Gene", "id": "MYSM1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3635/?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 } }