Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI907/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "1871", "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": 0.0003185, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.004351, "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": "Tolerated", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.364975, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 103124173, "genomic_position_hg38": 103483726, "chromosome": "7", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:51.813838", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.10108A>G", "protein_change": "p.Thr3370Ala", "transcript_id": "NM_005045.3", "dbsnp_id": "rs570807790", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI854" }, { "type": "Combination", "id": "OLI907" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1871/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1871/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1871/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1871/gene/?format=api" }, "data": { "type": "Gene", "id": "RELN" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1871/?format=api" } }, { "type": "SmallVariant", "id": "1896", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0006, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.003, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0002985, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.003371, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 8.796e-06, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.000392, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.576077, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 212495294, "genomic_position_hg38": 211630569, "chromosome": "2", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:51.970091", "ref_allele": "T", "alt_allele": "A", "cdna_change": "c.1972A>T", "protein_change": "p.Ile658Phe", "transcript_id": "NM_005235.2", "dbsnp_id": "rs190654033", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 4 }, "data": [ { "type": "Combination", "id": "OLI867" }, { "type": "Combination", "id": "OLI882" }, { "type": "Combination", "id": "OLI905" }, { "type": "Combination", "id": "OLI907" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1896/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1896/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1896/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1896/gene/?format=api" }, "data": { "type": "Gene", "id": "ERBB4" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1896/?format=api" } }, { "type": "SmallVariant", "id": "1960", "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": 0.000104, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.001423, "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": 4.067379, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 66286169, "genomic_position_hg38": 65420451, "chromosome": "4", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:52.380118", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.1517A>G", "protein_change": "p.Tyr506Cys", "transcript_id": "NM_001281765.2", "dbsnp_id": "rs56074660", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI907" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1960/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1960/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1960/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1960/gene/?format=api" }, "data": { "type": "Gene", "id": "EPHA5" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1960/?format=api" } }, { "type": "SmallVariant", "id": "1961", "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": "Damaging", "cadd_prediction": 1.947731, "mutationtaster_prediction": null }, "status": "CU", "genomic_position_hg19": 7177762, "genomic_position_hg38": 7259721, "chromosome": "X", "annotation_flag": "ambiguous_variant", "lastmodified": "2023-06-06T16:57:52.386585", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.770A>G", "protein_change": "p.Tyr257Cys", "transcript_id": "ENST00000217961.4", "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI907" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1961/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1961/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1961/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1961/gene/?format=api" }, "data": { "type": "Gene", "id": "STS" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1961/?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 } }