Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI449/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "954", "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": 5.330124, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 213032512, "genomic_position_hg38": 212859170, "chromosome": "1", "annotation_flag": "manually_corrected", "lastmodified": "2023-06-06T16:57:46.235186", "ref_allele": "AC", "alt_allele": "A", "cdna_change": "c.720del", "protein_change": "p.Ala241ProfsTer19", "transcript_id": "NM_014053.4", "dbsnp_id": "NA", "variant_effect": "frameshift" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI449" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/954/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/954/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/954/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/954/gene/?format=api" }, "data": { "type": "Gene", "id": "FLVCR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/954/?format=api" } }, { "type": "SmallVariant", "id": "955", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.004, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0002149, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.002898, "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": null, "pp2_hvar_prediction": null, "cadd_prediction": 5.433783, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 72974696, "genomic_position_hg38": 72264993, "chromosome": "6", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:46.241644", "ref_allele": "TA", "alt_allele": "T", "cdna_change": "c.3136delA", "protein_change": "p.Lys1046LysfsTer32", "transcript_id": "NM_014989.5", "dbsnp_id": "rs587783021", "variant_effect": "frameshift" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI449" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/955/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/955/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/955/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/955/gene/?format=api" }, "data": { "type": "Gene", "id": "RIMS1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/955/?format=api" } }, { "type": "SmallVariant", "id": "956", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0008, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.004, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0002111, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0004966, "gnomad_EAS_maf": 0.002503, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0, "gnomad_OTH_maf": 0.0001633, "gnomad_SAS_maf": 3.266e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.649649, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 216419934, "genomic_position_hg38": 216246592, "chromosome": "1", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:46.248109", "ref_allele": "A", "alt_allele": "C", "cdna_change": "c.2802T>G", "protein_change": "p.Cys934Trp", "transcript_id": "NM_206933.2", "dbsnp_id": "rs201527662", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI449" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/956/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/956/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/956/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/956/gene/?format=api" }, "data": { "type": "Gene", "id": "USH2A" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/956/?format=api" } }, { "type": "SmallVariant", "id": "957", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0004, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.002, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 3.98e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0005441, "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": "Benign", "cadd_prediction": 0.762714, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 215844508, "genomic_position_hg38": 215671166, "chromosome": "1", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:46.254586", "ref_allele": "C", "alt_allele": "G", "cdna_change": "c.13939G>C", "protein_change": "p.Gly4647Arg", "transcript_id": "NM_206933.2", "dbsnp_id": "rs144524302", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI449" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/957/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/957/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/957/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/957/gene/?format=api" }, "data": { "type": "Gene", "id": "USH2A" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/957/?format=api" } }, { "type": "SmallVariant", "id": "958", "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": 4.252046, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 215953294, "genomic_position_hg38": 215779952, "chromosome": "1", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:46.261042", "ref_allele": "C", "alt_allele": "G", "cdna_change": "c.10830G>C", "protein_change": "p.Trp3610Cys", "transcript_id": "NM_206933.2", "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI449" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/958/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/958/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/958/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/958/gene/?format=api" }, "data": { "type": "Gene", "id": "USH2A" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/958/?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 } }