Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI983/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "2130", "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": 0.0001949, "gnomad_AFR_maf": 0.0006155, "gnomad_AMR_maf": 0.0003759, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0001847, "gnomad_OTH_maf": 0.0008143, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.000227, "ESP_EA_maf": 0.0001163 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.872289, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 3768920, "genomic_position_hg38": 3852356, "chromosome": "1", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:53.402013", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.52G>A", "protein_change": "p.Gly18Ser", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI983" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2130/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2130/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2130/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2130/gene/?format=api" }, "data": { "type": "Gene", "id": "CEP104" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2130/?format=api" } }, { "type": "SmallVariant", "id": "2131", "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": 0.0001018, "gnomad_AFR_maf": 0.0001345, "gnomad_AMR_maf": 0.0001847, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 9.895e-05, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 7.772e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0001928, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.363473, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 17294861, "genomic_position_hg38": 16968366, "chromosome": "1", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:53.408491", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.5024G>A", "protein_change": "p.Arg1675His", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI983" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2131/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2131/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2131/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2131/gene/?format=api" }, "data": { "type": "Gene", "id": "CROCC" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2131/?format=api" } }, { "type": "SmallVariant", "id": "2132", "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": 3.562892, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 170523208, "genomic_position_hg38": 169602057, "chromosome": "4", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:53.414735", "ref_allele": "C", "alt_allele": "A", "cdna_change": "c.165G>T", "protein_change": "p.Lys55Phe", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI983" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2132/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2132/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2132/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2132/gene/?format=api" }, "data": { "type": "Gene", "id": "NEK1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2132/?format=api" } }, { "type": "SmallVariant", "id": "2133", "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": 3.977e-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": 8.792e-06, "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": "Damaging", "cadd_prediction": 3.778666, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 17810800, "genomic_position_hg38": 17907486, "chromosome": "17", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:53.423638", "ref_allele": "T", "alt_allele": "G", "cdna_change": "c.98A>C", "protein_change": "p.Asn33Thr", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI983" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2133/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2133/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2133/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2133/gene/?format=api" }, "data": { "type": "Gene", "id": "TOM1L2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2133/?format=api" } }, { "type": "SmallVariant", "id": "2134", "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": 0.0003398, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 5.827e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 4.629e-05, "gnomad_NFE_maf": 0.0007161, "gnomad_OTH_maf": 0.0001644, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0009302 }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 8.7808, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 100367147, "genomic_position_hg38": 97604865, "chromosome": "9", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:53.430876", "ref_allele": "C", "alt_allele": "A", "cdna_change": "c.1114G>T", "protein_change": "p.Gly372Ter", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI983" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2134/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2134/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2134/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2134/gene/?format=api" }, "data": { "type": "Gene", "id": "TSTD2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2134/?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 } }