Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI1678/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "3530", "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": 4.208982, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 238244878, "genomic_position_hg38": 237336235, "chromosome": "2", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:28.500698", "ref_allele": "G", "alt_allele": "GG", "cdna_change": "c.8865dupC", "protein_change": "p.Ala2956ArgfsTer13", "transcript_id": "NM_004369.4", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1678" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3530/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3530/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3530/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3530/gene/?format=api" }, "data": { "type": "Gene", "id": "COL6A3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3530/?format=api" } }, { "type": "SmallVariant", "id": "3531", "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": 4.772e-05, "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": 6.155e-05, "gnomad_OTH_maf": 0.0003259, "gnomad_SAS_maf": 9.799e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 2.14556, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 238274498, "genomic_position_hg38": 237365855, "chromosome": "2", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:28.513502", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.5681C>T", "protein_change": "p.Pro1894Leu", "transcript_id": "NM_004369.4", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1678" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3531/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3531/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3531/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3531/gene/?format=api" }, "data": { "type": "Gene", "id": "COL6A3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3531/?format=api" } }, { "type": "SmallVariant", "id": "3532", "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": 5.21e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0002318, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 2.649e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 6.536e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 1.899851, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 227876939, "genomic_position_hg38": 227012223, "chromosome": "2", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:28.525801", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.4291C>T", "protein_change": "p.Arg1431Cys", "transcript_id": "NM_000092.5", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1678" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3532/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3532/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3532/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3532/gene/?format=api" }, "data": { "type": "Gene", "id": "COL4A4" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3532/?format=api" } }, { "type": "SmallVariant", "id": "3533", "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": 5.289699, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 48390331, "genomic_position_hg38": 47996548, "chromosome": "12", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:28.538508", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.402G>A", "protein_change": "p.Met134Ile", "transcript_id": "NM_033150.3", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1678" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3533/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3533/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3533/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3533/gene/?format=api" }, "data": { "type": "Gene", "id": "COL2A1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3533/?format=api" } }, { "type": "SmallVariant", "id": "3534", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0002, "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": 0.0, "gnomad_maf": 0.000564, "gnomad_AFR_maf": 0.0001939, "gnomad_AMR_maf": 0.0002612, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0001393, "gnomad_NFE_maf": 0.00105, "gnomad_OTH_maf": 0.0009977, "gnomad_SAS_maf": 3.269e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": "Damaging", "cadd_prediction": 2.935533, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 179438713, "genomic_position_hg38": 178573986, "chromosome": "2", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:28.553669", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.64442T>C", "protein_change": "p.Leu21481Pro", "transcript_id": "NM_133378.4", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1678" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3534/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3534/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3534/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3534/gene/?format=api" }, "data": { "type": "Gene", "id": "TTN" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3534/?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 } }