Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI714/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "1563", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0006, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0031, "gnomad_maf": 0.0004894, "gnomad_AFR_maf": 0.000123, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0006949, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 5.279e-05, "gnomad_OTH_maf": 0.000163, "gnomad_SAS_maf": 0.003495, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.818986, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 16942755, "genomic_position_hg38": 16900756, "chromosome": "10", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:49.928825", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.8279T>C", "protein_change": "p.Ile2760Thr", "transcript_id": "NM_001081.3", "dbsnp_id": "rs538864199", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI714" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1563/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1563/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1563/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1563/gene/?format=api" }, "data": { "type": "Gene", "id": "CUBN" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1563/?format=api" } }, { "type": "SmallVariant", "id": "1564", "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": 3.981e-06, "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": 3.269e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.092565, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 3042596, "genomic_position_hg38": 2933430, "chromosome": "12", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:49.935060", "ref_allele": "G", "alt_allele": "T", "cdna_change": "c.709G>T", "protein_change": "p.Ala237Ser", "transcript_id": "NM_003324.4", "dbsnp_id": "rs762869650", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI714" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1564/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1564/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1564/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1564/gene/?format=api" }, "data": { "type": "Gene", "id": "TULP3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1564/?format=api" } }, { "type": "SmallVariant", "id": "1565", "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": 2.871e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0001013, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 1.821e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0001332, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.165198, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 54672186, "genomic_position_hg38": 56594825, "chromosome": "17", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:49.941308", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.602C>T", "protein_change": "p.Thr201Met", "transcript_id": "NM_005450.4", "dbsnp_id": "rs766861857", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI714" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1565/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1565/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1565/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1565/gene/?format=api" }, "data": { "type": "Gene", "id": "NOG" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1565/?format=api" } }, { "type": "SmallVariant", "id": "1566", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0032, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0014, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.001, "KGP_genomes_SAS_maf": 0.0143, "gnomad_maf": 0.003934, "gnomad_AFR_maf": 0.0001248, "gnomad_AMR_maf": 0.001891, "gnomad_ASJ_maf": 0.009996, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0001405, "gnomad_NFE_maf": 0.001711, "gnomad_OTH_maf": 0.003976, "gnomad_SAS_maf": 0.01945, "ESP_AA_maf": 0.0002271, "ESP_EA_maf": 0.001279 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 4.105618, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 48682550, "genomic_position_hg38": 48645117, "chromosome": "3", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:49.947444", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.7890G>A", "protein_change": "p.Met2630Ile", "transcript_id": "NM_001407.2", "dbsnp_id": "rs149614835", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI714" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1566/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1566/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1566/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1566/gene/?format=api" }, "data": { "type": "Gene", "id": "CELSR3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1566/?format=api" } }, { "type": "SmallVariant", "id": "1567", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0036, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0184, "gnomad_maf": 0.002443, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 5.784e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0, "gnomad_OTH_maf": 0.0008157, "gnomad_SAS_maf": 0.01983, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 0.495834, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 132160488, "genomic_position_hg38": 132824796, "chromosome": "5", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:49.953785", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1060G>A", "protein_change": "p.Val354Met", "transcript_id": "NM_001172700.1", "dbsnp_id": "rs550046729", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI714" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1567/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1567/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1567/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1567/gene/?format=api" }, "data": { "type": "Gene", "id": "SHROOM1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1567/?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": 5 } }