Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI1051/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "2271", "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": 3.712702, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 6128067, "genomic_position_hg38": 6018901, "chromosome": "12", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:54.255119", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.4517C>T", "protein_change": "p.Ser1506Leu", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI1044" }, { "type": "Combination", "id": "OLI1051" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2271/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2271/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2271/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2271/gene/?format=api" }, "data": { "type": "Gene", "id": "VWF" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2271/?format=api" } }, { "type": "SmallVariant", "id": "2298", "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": "Possibly Damaging", "cadd_prediction": 4.183888, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 6121276, "genomic_position_hg38": 6012110, "chromosome": "12", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:54.417523", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.5641G>A", "protein_change": "p.Asp1881Asn", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1051" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2298/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2298/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2298/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2298/gene/?format=api" }, "data": { "type": "Gene", "id": "VWF" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2298/?format=api" } }, { "type": "SmallVariant", "id": "2299", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0066, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0159, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0219, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.01269, "gnomad_AFR_maf": 0.004675, "gnomad_AMR_maf": 0.009946, "gnomad_ASJ_maf": 0.01925, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.002033, "gnomad_NFE_maf": 0.02128, "gnomad_OTH_maf": 0.0145, "gnomad_SAS_maf": 0.0007839, "ESP_AA_maf": 0.006131, "ESP_EA_maf": 0.02175 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.897356, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 27389739, "genomic_position_hg38": 27368192, "chromosome": "11", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:54.423416", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.2531A>G", "protein_change": "p.Asp844Gly", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1051" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2299/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2299/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2299/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2299/gene/?format=api" }, "data": { "type": "Gene", "id": "LGR4" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2299/?format=api" } }, { "type": "SmallVariant", "id": "2300", "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": 0.0001034, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0001736, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0003262, "gnomad_FIN_maf": 4.624e-05, "gnomad_NFE_maf": 0.0001056, "gnomad_OTH_maf": 0.0001632, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.305024, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 176308697, "genomic_position_hg38": 176881696, "chromosome": "5", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:54.429394", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.2389G>A", "protein_change": "p.Glu797Lys", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1051" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2300/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2300/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2300/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2300/gene/?format=api" }, "data": { "type": "Gene", "id": "HK3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2300/?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 } }