Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI1128/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "2430", "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": 4.301045, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 76741975, "genomic_position_hg38": 76348195, "chromosome": "12", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:55.212409", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.164T>C", "protein_change": "p.Leu55Pro", "transcript_id": "NM_024685.4", "dbsnp_id": "rs1460517643", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1128" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2430/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2430/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2430/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2430/gene/?format=api" }, "data": { "type": "Gene", "id": "BBS10" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2430/?format=api" } }, { "type": "SmallVariant", "id": "154", "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": null, "mutationtaster_prediction": null }, "status": "CU", "genomic_position_hg19": null, "genomic_position_hg38": null, "chromosome": "12", "annotation_flag": "not_found_in_databases", "lastmodified": "2021-10-18T11:00:47.708618", "ref_allele": null, "alt_allele": null, "cdna_change": null, "protein_change": "p.Glu274ValfsTer29", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": "frameshift" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI078" }, { "type": "Combination", "id": "OLI1128" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/154/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/154/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/154/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/154/gene/?format=api" }, "data": { "type": "Gene", "id": "BBS10" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/154/?format=api" } }, { "type": "SmallVariant", "id": "155", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0044, "KGP_genomes_AFR_maf": 0.0166, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.001595, "gnomad_AFR_maf": 0.01423, "gnomad_AMR_maf": 0.001854, "gnomad_ASJ_maf": 0.005892, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0003207, "gnomad_OTH_maf": 0.001641, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.01158, "ESP_EA_maf": 0.0003488 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.186604, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 123663402, "genomic_position_hg38": 122742247, "chromosome": "4", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:41.425834", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.355G>A", "protein_change": "p.Gly119Ser", "transcript_id": "NM_001178007.1", "dbsnp_id": "rs77731085", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 3 }, "data": [ { "type": "Combination", "id": "OLI078" }, { "type": "Combination", "id": "OLI1128" }, { "type": "Combination", "id": "OLI142" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/155/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/155/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/155/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/155/gene/?format=api" }, "data": { "type": "Gene", "id": "BBS12" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/155/?format=api" } }, { "type": "SmallVariant", "id": "2431", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0002, "KGP_genomes_AFR_maf": 0.0008, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 4.774e-05, "gnomad_AFR_maf": 0.0006155, "gnomad_AMR_maf": 5.782e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0004539, "ESP_EA_maf": 0.0 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": -0.069369, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 123663834, "genomic_position_hg38": 122742679, "chromosome": "4", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:55.218333", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.787T>C", "protein_change": "p.Tyr263His", "transcript_id": "NM_001178007.2", "dbsnp_id": "rs150040166", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1128" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2431/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2431/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2431/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2431/gene/?format=api" }, "data": { "type": "Gene", "id": "BBS12" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2431/?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 } }