Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI1572/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "3316", "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": 0.0007848, "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": 0.00146, "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": 1.903264, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 98270607, "genomic_position_hg38": 95508325, "chromosome": "9", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.386712", "ref_allele": "G", "alt_allele": "C", "cdna_change": "c.37C>G", "protein_change": "p.Arg13Gly", "transcript_id": "NM_000264", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1572" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3316/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3316/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3316/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3316/gene/?format=api" }, "data": { "type": "Gene", "id": "PTCH1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3316/?format=api" } }, { "type": "SmallVariant", "id": "3317", "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": 5.567e-05, "gnomad_AFR_maf": 0.000123, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0001055, "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": 4.340369, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 98224206, "genomic_position_hg38": 95461924, "chromosome": "9", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.392639", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.2635G>A", "protein_change": "p.Asp879Asn", "transcript_id": "NM_000264", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1572" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3317/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3317/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3317/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3317/gene/?format=api" }, "data": { "type": "Gene", "id": "PTCH1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3317/?format=api" } }, { "type": "SmallVariant", "id": "3318", "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": 2.814e-05, "gnomad_AFR_maf": 6.373e-05, "gnomad_AMR_maf": 5.794e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0001309, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.051658, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 98209387, "genomic_position_hg38": 95447105, "chromosome": "9", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.398676", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.4151C>T", "protein_change": "p.Pro1384Leu", "transcript_id": "NM_000264", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1572" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3318/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3318/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3318/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3318/gene/?format=api" }, "data": { "type": "Gene", "id": "PTCH1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3318/?format=api" } }, { "type": "SmallVariant", "id": "3319", "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": 2.394805, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 32360548, "genomic_position_hg38": 31786411, "chromosome": "13", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.404729", "ref_allele": "C", "alt_allele": "A", "cdna_change": "c.958C>A", "protein_change": "p.Leu320Ile", "transcript_id": "NM_130806", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1572" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3319/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3319/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3319/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3319/gene/?format=api" }, "data": { "type": "Gene", "id": "RXFP2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3319/?format=api" } }, { "type": "SmallVariant", "id": "3320", "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": 4.060922, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 139092473, "genomic_position_hg38": 136200627, "chromosome": "9", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.410789", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.221G>A", "protein_change": "p.Cys74Tyr", "transcript_id": "NM_014564", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1572" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3320/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3320/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3320/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3320/gene/?format=api" }, "data": { "type": "Gene", "id": "LHX3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3320/?format=api" } }, { "type": "SmallVariant", "id": "3227", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0004, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0029, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0001216, "gnomad_AFR_maf": 0.0001248, "gnomad_AMR_maf": 0.0004815, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 7.595e-05, "gnomad_OTH_maf": 0.0005396, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.58998, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 57167921, "genomic_position_hg38": 56774137, "chromosome": "12", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:59.843992", "ref_allele": "G", "alt_allele": "T", "cdna_change": "c.285G>T", "protein_change": "p.Gln95His", "transcript_id": "NM_003725", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 3 }, "data": [ { "type": "Combination", "id": "OLI1535" }, { "type": "Combination", "id": "OLI1554" }, { "type": "Combination", "id": "OLI1572" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3227/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3227/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3227/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3227/gene/?format=api" }, "data": { "type": "Gene", "id": "HSD17B6" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3227/?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": 6 } }