Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI1046/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "2278", "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": 4.904e-06, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 3.24e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "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": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 0.337598, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 127262737, "genomic_position_hg38": 124500458, "chromosome": "9", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:54.297201", "ref_allele": "C", "alt_allele": "G", "cdna_change": "c.502G>C", "protein_change": "p.Ala168Pro", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1046" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2278/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2278/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2278/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2278/gene/?format=api" }, "data": { "type": "Gene", "id": "NR5A1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2278/?format=api" } }, { "type": "SmallVariant", "id": "2279", "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": 0.0, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "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": "Damaging", "cadd_prediction": 4.060882, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 152637985, "genomic_position_hg38": 152316850, "chromosome": "6", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:54.303108", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.16709A>G", "protein_change": "p.Gln5570Arg", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1046" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2279/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2279/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2279/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2279/gene/?format=api" }, "data": { "type": "Gene", "id": "SYNE1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2279/?format=api" } }, { "type": "SmallVariant", "id": "2280", "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": null, "pp2_hvar_prediction": null, "cadd_prediction": null, "mutationtaster_prediction": null }, "status": "CU", "genomic_position_hg19": 131931453, "genomic_position_hg38": 132595761, "chromosome": "5", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:54.309168", "ref_allele": "-", "alt_allele": "A", "cdna_change": "c.2165dupA", "protein_change": "p.Glu723GlyfsTer5", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1046" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2280/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2280/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2280/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2280/gene/?format=api" }, "data": { "type": "Gene", "id": "RAD50" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2280/?format=api" } }, { "type": "SmallVariant", "id": "2281", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0114, "KGP_genomes_AFR_maf": 0.0015, "KGP_genomes_AMR_maf": 0.0101, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0199, "KGP_genomes_SAS_maf": 0.0286, "gnomad_maf": 0.01717, "gnomad_AFR_maf": 0.001664, "gnomad_AMR_maf": 0.01004, "gnomad_ASJ_maf": 0.04622, "gnomad_EAS_maf": 0.0002727, "gnomad_FIN_maf": 0.02636, "gnomad_NFE_maf": 0.01585, "gnomad_OTH_maf": 0.01756, "gnomad_SAS_maf": 0.03236, "ESP_AA_maf": 0.001816, "ESP_EA_maf": 0.01814 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.221148, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 28305324, "genomic_position_hg38": 26933005, "chromosome": "21", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:54.315284", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1729G>A", "protein_change": "p.Gly577Ser", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1046" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2281/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2281/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2281/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2281/gene/?format=api" }, "data": { "type": "Gene", "id": "ADAMTS5" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2281/?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 } }