Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI848/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "1826", "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": 0.0002227, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 2.891e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.002936, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0, "gnomad_OTH_maf": 0.000163, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.999773, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 5283308, "genomic_position_hg38": 5302662, "chromosome": "20", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:51.534556", "ref_allele": "C", "alt_allele": "G", "cdna_change": "c.533G>C", "protein_change": "p.Trp178Ser", "transcript_id": "NM_144773.3", "dbsnp_id": "rs201835496", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 18 }, "data": [ { "type": "Combination", "id": "OLI833" }, { "type": "Combination", "id": "OLI836" }, { "type": "Combination", "id": "OLI848" }, { "type": "Combination", "id": "OLI851" }, { "type": "Combination", "id": "OLI855" }, { "type": "Combination", "id": "OLI859" }, { "type": "Combination", "id": "OLI862" }, { "type": "Combination", "id": "OLI890" }, { "type": "Combination", "id": "OLI892" }, { "type": "Combination", "id": "OLI895" }, { "type": "Combination", "id": "OLI899" }, { "type": "Combination", "id": "OLI900" }, { "type": "Combination", "id": "OLI1016" }, { "type": "Combination", "id": "OLI1337" }, { "type": "Combination", "id": "OLI1338" }, { "type": "Combination", "id": "OLI1356" }, { "type": "Combination", "id": "OLI834" }, { "type": "Combination", "id": "OLI847" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1826/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1826/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1826/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1826/gene/?format=api" }, "data": { "type": "Gene", "id": "PROKR2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1826/?format=api" } }, { "type": "SmallVariant", "id": "1854", "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": 2.388e-05, "gnomad_AFR_maf": 6.152e-05, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 8.804e-06, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0001307, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.904986, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 79753056, "genomic_position_hg38": 77993298, "chromosome": "10", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:51.716456", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.2686G>A", "protein_change": "p.Asp896Asn", "transcript_id": "NM_007055.3", "dbsnp_id": "rs773941193", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI848" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1854/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1854/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1854/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1854/gene/?format=api" }, "data": { "type": "Gene", "id": "POLR3A" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1854/?format=api" } }, { "type": "SmallVariant", "id": "1855", "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": 8.117e-06, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 5.492e-05, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 9.015e-06, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0001171 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.827233, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 7607555, "genomic_position_hg38": 7542669, "chromosome": "19", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:51.722916", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.1244G>A", "protein_change": "p.Arg415Gln", "transcript_id": "NM_006702.5", "dbsnp_id": "rs370626406", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI848" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1855/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1855/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1855/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1855/gene/?format=api" }, "data": { "type": "Gene", "id": "PNPLA6" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1855/?format=api" } }, { "type": "SmallVariant", "id": "1856", "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": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.727348, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 140744380, "genomic_position_hg38": 139732137, "chromosome": "8", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:51.729382", "ref_allele": "C", "alt_allele": "G", "cdna_change": "c.3121G>C", "protein_change": "p.Asp1041His", "transcript_id": "NM_031466.7", "dbsnp_id": "rs754172005", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI848" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1856/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1856/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1856/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1856/gene/?format=api" }, "data": { "type": "Gene", "id": "TRAPPC9" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1856/?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 } }