Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI231/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "447", "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": 0.001, "KGP_genomes_SAS_maf": 0.002, "gnomad_maf": 0.000442, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0001158, "gnomad_ASJ_maf": 0.0006949, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0002466, "gnomad_OTH_maf": 0.0001633, "gnomad_SAS_maf": 0.002319, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.295882, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 112435335, "genomic_position_hg38": 112114132, "chromosome": "6", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:43.134125", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.5249C>T", "protein_change": "p.Pro1750Leu", "transcript_id": "NM_001105207.2", "dbsnp_id": "rs200177134", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI231" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/447/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/447/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/447/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/447/gene/?format=api" }, "data": { "type": "Gene", "id": "LAMA4" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/447/?format=api" } }, { "type": "SmallVariant", "id": "448", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0006, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0029, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.001, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.002452, "gnomad_AFR_maf": 0.0008612, "gnomad_AMR_maf": 0.002515, "gnomad_ASJ_maf": 0.009627, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0001397, "gnomad_NFE_maf": 0.003563, "gnomad_OTH_maf": 0.001631, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0004539, "ESP_EA_maf": 0.004651 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.148255, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 32977026, "genomic_position_hg38": 32824092, "chromosome": "12", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:43.140293", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1759G>A", "protein_change": "p.Val587Ile", "transcript_id": "NM_004572.3", "dbsnp_id": "rs146102241", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI231" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/448/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/448/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/448/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/448/gene/?format=api" }, "data": { "type": "Gene", "id": "PKP2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/448/?format=api" } }, { "type": "SmallVariant", "id": "449", "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": 0.706847, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 179544684, "genomic_position_hg38": 178679957, "chromosome": "2", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:43.146572", "ref_allele": "A", "alt_allele": "ACTT", "cdna_change": "c.32565_32566insAAG", "protein_change": "p.Glu10855_Tyr10856insLys", "transcript_id": "NM_001256850.1", "dbsnp_id": "rs1577324587", "variant_effect": "insertion" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI231" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/449/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/449/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/449/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/449/gene/?format=api" }, "data": { "type": "Gene", "id": "TTN" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/449/?format=api" } }, { "type": "SmallVariant", "id": "450", "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": 6.448e-05, "gnomad_AFR_maf": 6.463e-05, "gnomad_AMR_maf": 0.000116, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 5.591e-05, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 8.919e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0001219 }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.045188, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 179444867, "genomic_position_hg38": 178580140, "chromosome": "2", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:43.152876", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.62224G>A", "protein_change": "p.Gly20742Arg", "transcript_id": "NM_001256850.1", "dbsnp_id": "rs372388682", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI231" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/450/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/450/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/450/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/450/gene/?format=api" }, "data": { "type": "Gene", "id": "TTN" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/450/?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 } }