Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI1522/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "3192", "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": 5.367e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0002119, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 2.664e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 2.129275, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 149680919, "genomic_position_hg38": 150512649, "chromosome": "X", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:59.631953", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.2573C>T", "protein_change": "p.Pro858Leu", "transcript_id": "NM_001177465", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI1522" }, { "type": "Combination", "id": "OLI1578" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3192/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3192/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3192/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3192/gene/?format=api" }, "data": { "type": "Gene", "id": "MAMLD1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3192/?format=api" } }, { "type": "SmallVariant", "id": "3193", "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": "Benign", "cadd_prediction": 3.114207, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 32371455, "genomic_position_hg38": 31797318, "chromosome": "13", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:59.638170", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1904C>T", "protein_change": "p.Ala635Val", "transcript_id": "NM_130806", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1522" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3193/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3193/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3193/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3193/gene/?format=api" }, "data": { "type": "Gene", "id": "RXFP2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3193/?format=api" } }, { "type": "SmallVariant", "id": "3194", "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": 0.0001117, "gnomad_AFR_maf": 0.0006774, "gnomad_AMR_maf": 0.0003766, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 2.648e-05, "gnomad_OTH_maf": 0.0001638, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 2.576699, "mutationtaster_prediction": null }, "status": "CU", "genomic_position_hg19": 14307828, "genomic_position_hg38": 14327182, "chromosome": "20", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:59.644447", "ref_allele": "A", "alt_allele": "C", "cdna_change": "c.325T>G", "protein_change": "p.Leu109Val", "transcript_id": "NM_013281", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1522" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3194/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3194/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3194/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3194/gene/?format=api" }, "data": { "type": "Gene", "id": "FLRT3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3194/?format=api" } }, { "type": "SmallVariant", "id": "3195", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0026, "KGP_genomes_AFR_maf": 0.0076, "KGP_genomes_AMR_maf": 0.0014, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.002, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.002476, "gnomad_AFR_maf": 0.01002, "gnomad_AMR_maf": 0.00165, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0007867, "gnomad_NFE_maf": 0.002983, "gnomad_OTH_maf": 0.002626, "gnomad_SAS_maf": 0.001046, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.502159, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 88780820, "genomic_position_hg38": 88714412, "chromosome": "16", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:59.650646", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.1127G>A", "protein_change": "p.Arg376Gln", "transcript_id": "NM_001012759", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1522" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3195/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3195/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3195/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3195/gene/?format=api" }, "data": { "type": "Gene", "id": "CTU2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3195/?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 } }