Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI1543/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "3242", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0004, "KGP_genomes_AFR_maf": 0.0015, "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": 0.0002623, "gnomad_AFR_maf": 0.003854, "gnomad_AMR_maf": 3.684e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0, "gnomad_OTH_maf": 0.0001983, "gnomad_SAS_maf": 4.01e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.546493, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 10076416, "genomic_position_hg38": 10034732, "chromosome": "3", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:59.938207", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.311T>C", "protein_change": "p.Ile104Thr", "transcript_id": "NM_033084", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1543" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3242/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3242/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3242/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3242/gene/?format=api" }, "data": { "type": "Gene", "id": "FANCD2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3242/?format=api" } }, { "type": "SmallVariant", "id": "3243", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0004, "KGP_genomes_AFR_maf": 0.0015, "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": 0.0002229, "gnomad_AFR_maf": 0.003326, "gnomad_AMR_maf": 2.893e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0, "gnomad_OTH_maf": 0.0001633, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 0.549892, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 10084831, "genomic_position_hg38": 10043147, "chromosome": "3", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:59.944581", "ref_allele": "C", "alt_allele": "G", "cdna_change": "c.986C>G", "protein_change": "p.Ala329Gly", "transcript_id": "NM_033084", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1543" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3243/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3243/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3243/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3243/gene/?format=api" }, "data": { "type": "Gene", "id": "FANCD2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3243/?format=api" } }, { "type": "SmallVariant", "id": "3244", "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": 3.983e-06, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 8.81e-06, "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": 1.862553, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 5254597, "genomic_position_hg38": 5212634, "chromosome": "10", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:59.950998", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.589C>T", "protein_change": "p.Leu197Phe", "transcript_id": "NM_001818", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1543" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3244/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3244/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3244/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3244/gene/?format=api" }, "data": { "type": "Gene", "id": "AKR1C4" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3244/?format=api" } }, { "type": "SmallVariant", "id": "3245", "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": 1.593e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 8.675e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 8.81e-06, "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": 0.787832, "mutationtaster_prediction": null }, "status": "CU", "genomic_position_hg19": 5091039, "genomic_position_hg38": 5048847, "chromosome": "10", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:59.957250", "ref_allele": "T", "alt_allele": "G", "cdna_change": "c.36T>G", "protein_change": "p.Asp12Glu", "transcript_id": "NM_001253908", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1543" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3245/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3245/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3245/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3245/gene/?format=api" }, "data": { "type": "Gene", "id": "AKR1C3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3245/?format=api" } }, { "type": "SmallVariant", "id": "3246", "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": "Possibly Damaging", "cadd_prediction": 2.924954, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 5764988, "genomic_position_hg38": 5725357, "chromosome": "7", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:59.963360", "ref_allele": "G", "alt_allele": "T", "cdna_change": "c.1471C>A", "protein_change": "p.Gln491Lys", "transcript_id": "NM_207111", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1543" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3246/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3246/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3246/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3246/gene/?format=api" }, "data": { "type": "Gene", "id": "RNF216" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3246/?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 } }