Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI807/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "1775", "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": 3.197e-05, "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": 4.959e-05, "gnomad_OTH_maf": 0.0002266, "gnomad_SAS_maf": 4.388e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 4.292895, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 118962147, "genomic_position_hg38": 119091437, "chromosome": "11", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:51.242660", "ref_allele": "C", "alt_allele": "T", "cdna_change": null, "protein_change": "p.Arg175Trp", "transcript_id": null, "dbsnp_id": "rs756417575", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI807" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1775/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1775/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1775/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1775/gene/?format=api" }, "data": { "type": "Gene", "id": "HMBS" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1775/?format=api" } }, { "type": "SmallVariant", "id": "1776", "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": 5.693876, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 81635341, "genomic_position_hg38": 81586190, "chromosome": "3", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:51.249057", "ref_allele": "C", "alt_allele": "T", "cdna_change": null, "protein_change": "p.Asp413Asn", "transcript_id": null, "dbsnp_id": "rs752711257", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI807" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1776/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1776/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1776/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1776/gene/?format=api" }, "data": { "type": "Gene", "id": "GBE1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1776/?format=api" } }, { "type": "SmallVariant", "id": "1777", "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": 2.387e-05, "gnomad_AFR_maf": 0.0001845, "gnomad_AMR_maf": 5.782e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 8.796e-06, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.000227, "ESP_EA_maf": 0.0 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.559263, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 39070725, "genomic_position_hg38": 38580085, "chromosome": "19", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:51.255394", "ref_allele": "C", "alt_allele": "T", "cdna_change": null, "protein_change": "p.Thr4823Met", "transcript_id": null, "dbsnp_id": "rs148540135", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI807" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1777/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1777/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1777/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1777/gene/?format=api" }, "data": { "type": "Gene", "id": "RYR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1777/?format=api" } }, { "type": "SmallVariant", "id": "1778", "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": 3.596109, "mutationtaster_prediction": null }, "status": "CU", "genomic_position_hg19": 71839141, "genomic_position_hg38": 72619291, "chromosome": "X", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:51.261867", "ref_allele": "G", "alt_allele": "A", "cdna_change": null, "protein_change": "p.Leu718Phe", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI807" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1778/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1778/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1778/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1778/gene/?format=api" }, "data": { "type": "Gene", "id": "PHKA1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1778/?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 } }