Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI552/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "1148", "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": 5.579e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0002896, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 1.764e-05, "gnomad_OTH_maf": 0.0003264, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.660077, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 216498790, "genomic_position_hg38": 216325448, "chromosome": "1", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:47.422505", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.1000C>T", "protein_change": "p.Arg334Trp", "transcript_id": "NM_206933.4", "dbsnp_id": "rs397517963", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI552" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1148/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1148/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1148/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1148/gene/?format=api" }, "data": { "type": "Gene", "id": "USH2A" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1148/?format=api" } }, { "type": "SmallVariant", "id": "1149", "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": 2.002e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 2.896e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 3.561e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0002326 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.323254, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 215848693, "genomic_position_hg38": 215675351, "chromosome": "1", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:47.428760", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.12560G>A", "protein_change": "p.Arg4187His", "transcript_id": "NM_206933.2", "dbsnp_id": "rs147304271", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI552" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1149/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1149/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1149/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1149/gene/?format=api" }, "data": { "type": "Gene", "id": "USH2A" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1149/?format=api" } }, { "type": "SmallVariant", "id": "1150", "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": 1.341e-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": 3.634e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 2.001298, "mutationtaster_prediction": null }, "status": "CU", "genomic_position_hg19": 102776164, "genomic_position_hg38": 101016407, "chromosome": "10", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:47.435034", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.1543C>T", "protein_change": "p.Gln515Ter", "transcript_id": "NM_001195263.1", "dbsnp_id": "rs979094623", "variant_effect": "nonsense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI552" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1150/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1150/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1150/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1150/gene/?format=api" }, "data": { "type": "Gene", "id": "PDZD7" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1150/?format=api" } }, { "type": "SmallVariant", "id": "1151", "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": null, "pp2_hvar_prediction": null, "cadd_prediction": 3.369783, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 90077329, "genomic_position_hg38": 90781512, "chromosome": "5", "annotation_flag": "manually_corrected", "lastmodified": "2023-06-06T16:57:47.441653", "ref_allele": "A", "alt_allele": "ATGGAACTCCAGGAGGG", "cdna_change": "c.13165_13166insTGGAACTCCAGGAGGG", "protein_change": "p.Ile4389MetfsTer11", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": "frameshift" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI552" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1151/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1151/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1151/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1151/gene/?format=api" }, "data": { "type": "Gene", "id": "ADGRV1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1151/?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 } }