Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI1673/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "3517", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0002, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.001, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 1.744e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 3.28e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 2.883e-05, "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": "Benign", "cadd_prediction": 4.007352, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 102661252, "genomic_position_hg38": 102790521, "chromosome": "11", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:27.967882", "ref_allele": "C", "alt_allele": "A", "cdna_change": "c.1301G>T", "protein_change": "p.Gly434Val", "transcript_id": "NM_002421.4", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1673" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3517/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3517/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3517/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3517/gene/?format=api" }, "data": { "type": "Gene", "id": "MMP1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3517/?format=api" } }, { "type": "SmallVariant", "id": "3518", "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": "Tolerated", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 2.29457, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 55519267, "genomic_position_hg38": 55485355, "chromosome": "16", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:27.980662", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.586G>A", "protein_change": "p.Ala196Thr", "transcript_id": "NM_004530.6", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1673" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3518/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3518/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3518/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3518/gene/?format=api" }, "data": { "type": "Gene", "id": "MMP2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3518/?format=api" } }, { "type": "SmallVariant", "id": "3519", "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": "Tolerated", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 2.162991, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 36564715, "genomic_position_hg38": 36099114, "chromosome": "1", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:27.992679", "ref_allele": "T", "alt_allele": "A", "cdna_change": "c.567A>T", "protein_change": "p.Glu189Asp", "transcript_id": "NM_005202.4", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1673" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3519/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3519/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3519/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3519/gene/?format=api" }, "data": { "type": "Gene", "id": "COL8A2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3519/?format=api" } }, { "type": "SmallVariant", "id": "3520", "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": 0.0002205, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0001449, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 4.641e-05, "gnomad_NFE_maf": 0.0004153, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 6.536e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.405132, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 228173675, "genomic_position_hg38": 227308959, "chromosome": "2", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:28.004902", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.4523A>G", "protein_change": "p.Asn1508Ser", "transcript_id": "NM_000091.5", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1673" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3520/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3520/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3520/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3520/gene/?format=api" }, "data": { "type": "Gene", "id": "COL4A3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3520/?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 } }