Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI793/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "1741", "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": 0.0006129, "gnomad_AFR_maf": 0.0001396, "gnomad_AMR_maf": 0.0004658, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 4.914e-05, "gnomad_NFE_maf": 0.00108, "gnomad_OTH_maf": 0.001682, "gnomad_SAS_maf": 6.566e-05, "ESP_AA_maf": 0.0002608, "ESP_EA_maf": 0.001487 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.804676, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 220349156, "genomic_position_hg38": 219484434, "chromosome": "2", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:51.028182", "ref_allele": "T", "alt_allele": "A", "cdna_change": "c.6971T>A", "protein_change": "p.Ile2324Asn", "transcript_id": "NM_005876.4", "dbsnp_id": "rs201170917", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI793" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1741/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1741/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1741/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1741/gene/?format=api" }, "data": { "type": "Gene", "id": "SPEG" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1741/?format=api" } }, { "type": "SmallVariant", "id": "1742", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0118, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.013, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0268, "KGP_genomes_SAS_maf": 0.0235, "gnomad_maf": 0.02239, "gnomad_AFR_maf": 0.004145, "gnomad_AMR_maf": 0.01098, "gnomad_ASJ_maf": 0.05707, "gnomad_EAS_maf": 0.00039, "gnomad_FIN_maf": 0.01021, "gnomad_NFE_maf": 0.0269, "gnomad_OTH_maf": 0.02841, "gnomad_SAS_maf": 0.03677, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 0.153022, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 24392325, "genomic_position_hg38": 24065835, "chromosome": "1", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:51.034674", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.3534+56G>A", "protein_change": null, "transcript_id": "NM_152372.3", "dbsnp_id": "rs139328461", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI793" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1742/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1742/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1742/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1742/gene/?format=api" }, "data": { "type": "Gene", "id": "MYOM3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1742/?format=api" } }, { "type": "SmallVariant", "id": "1743", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0004, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0029, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0001322, "gnomad_AFR_maf": 0.001162, "gnomad_AMR_maf": 0.0001739, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0001112, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 1.765e-05, "gnomad_OTH_maf": 0.000165, "gnomad_SAS_maf": 0.0001307, "ESP_AA_maf": 0.0004993, "ESP_EA_maf": 0.0 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.598846, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 24413248, "genomic_position_hg38": 24086758, "chromosome": "1", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:51.041096", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1684G>A", "protein_change": "p.Val562Ile", "transcript_id": "NM_152372.3", "dbsnp_id": "rs183173497", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI793" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1743/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1743/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1743/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1743/gene/?format=api" }, "data": { "type": "Gene", "id": "MYOM3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1743/?format=api" } }, { "type": "SmallVariant", "id": "1744", "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": 3.861211, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 120189982, "genomic_position_hg38": 119752177, "chromosome": "12", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:51.047483", "ref_allele": "T", "alt_allele": "G", "cdna_change": "c.2651A>C", "protein_change": "p.Gln884Pro", "transcript_id": "NM_007174.2", "dbsnp_id": "rs1593597170", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI793" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1744/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1744/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1744/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1744/gene/?format=api" }, "data": { "type": "Gene", "id": "CIT" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1744/?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 } }