Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/SMCHD1/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "100", "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": 4.818793, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 2772344, "genomic_position_hg38": 2772346, "chromosome": "18", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:41.117167", "ref_allele": "AAA", "alt_allele": "A", "cdna_change": "c.5150_5151del", "protein_change": "p.Lys1717fs", "transcript_id": "NM_015295.2", "dbsnp_id": "NA", "variant_effect": "frameshift" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI051" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/100/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/100/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/100/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/100/gene/?format=api" }, "data": { "type": "Gene", "id": "SMCHD1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/100/?format=api" } }, { "type": "SmallVariant", "id": "2904", "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": 8.969e-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": 1.723e-05, "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": 1.572753, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 2656109, "genomic_position_hg38": 2656110, "chromosome": "18", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:57.934130", "ref_allele": "C", "alt_allele": "A", "cdna_change": "c.35C>A", "protein_change": "p.Ala12Asp", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1384" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2904/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2904/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2904/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2904/gene/?format=api" }, "data": { "type": "Gene", "id": "SMCHD1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2904/?format=api" } }, { "type": "SmallVariant", "id": "2928", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0002, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0014, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 3.213e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0002028, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 8.864e-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": 2.436861, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 2732320, "genomic_position_hg38": 2732322, "chromosome": "18", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:58.079528", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.3106G>A", "protein_change": "p.Val1036Ile", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1394" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2928/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2928/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2928/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2928/gene/?format=api" }, "data": { "type": "Gene", "id": "SMCHD1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2928/?format=api" } }, { "type": "SmallVariant", "id": "2958", "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": "Damaging", "cadd_prediction": 2.378626, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 2703846, "genomic_position_hg38": 2703848, "chromosome": "18", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:58.261994", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.1804A>G", "protein_change": "p.Ile602Val", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1407" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2958/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2958/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2958/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2958/gene/?format=api" }, "data": { "type": "Gene", "id": "SMCHD1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2958/?format=api" } }, { "type": "SmallVariant", "id": "2970", "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": 8.429e-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": 1.912e-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": "Damaging", "cadd_prediction": 3.07603, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 2697038, "genomic_position_hg38": 2697040, "chromosome": "18", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:58.334940", "ref_allele": "A", "alt_allele": "T", "cdna_change": "c.1049A>T", "protein_change": "p.Tyr350Phe", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1412" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2970/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2970/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2970/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2970/gene/?format=api" }, "data": { "type": "Gene", "id": "SMCHD1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2970/?format=api" } }, { "type": "SmallVariant", "id": "2980", "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": "Damaging", "cadd_prediction": 2.666211, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 2700840, "genomic_position_hg38": 2700842, "chromosome": "18", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:58.396677", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.1571A>G", "protein_change": "p.Asn524Ser", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1417" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2980/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2980/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2980/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2980/gene/?format=api" }, "data": { "type": "Gene", "id": "SMCHD1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2980/?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 } }