Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/FIG4/variants/?format=api
https://olida.ibsquare.be/api/variants/549/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/549/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/549/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/549/gene/?format=api" }, "data": { "type": "Gene", "id": "FIG4" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/549/?format=api" } }, { "type": "SmallVariant", "id": "941", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0004, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.002, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0002988, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.004026, "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": 2.054561, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 110059539, "genomic_position_hg38": 109738336, "chromosome": "6", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:46.157605", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.658A>G", "protein_change": "p.Ile220Val", "transcript_id": "NM_014845.5", "dbsnp_id": "rs565096937", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI442" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/941/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/941/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/941/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/941/gene/?format=api" }, "data": { "type": "Gene", "id": "FIG4" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/941/?format=api" } }, { "type": "SmallVariant", "id": "1426", "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": 5.08553, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 110064468, "genomic_position_hg38": 109743265, "chromosome": "6", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:49.064367", "ref_allele": "T", "alt_allele": "TT", "cdna_change": "c.1032dup", "protein_change": "p.Ile345TyrfsTer18", "transcript_id": "NM_014845", "dbsnp_id": "NA", "variant_effect": "frameshift" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI656" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1426/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1426/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1426/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1426/gene/?format=api" }, "data": { "type": "Gene", "id": "FIG4" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1426/?format=api" } }, { "type": "SmallVariant", "id": "1433", "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": 1.193e-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": 2.637e-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": 2.941691, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 110037726, "genomic_position_hg38": 109716523, "chromosome": "6", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:49.111651", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.244G>A", "protein_change": "p.Gly82Arg", "transcript_id": "NM_014845.5", "dbsnp_id": "rs774546266", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI660" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1433/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1433/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1433/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1433/gene/?format=api" }, "data": { "type": "Gene", "id": "FIG4" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1433/?format=api" } }, { "type": "SmallVariant", "id": "1438", "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": "Possibly Damaging", "cadd_prediction": 4.094431, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 110064916, "genomic_position_hg38": 109743713, "chromosome": "6", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:49.145447", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1078C>T", "protein_change": "p.His360Tyr", "transcript_id": "NM_014845.5", "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI664" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1438/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1438/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1438/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1438/gene/?format=api" }, "data": { "type": "Gene", "id": "FIG4" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1438/?format=api" } }, { "type": "SmallVariant", "id": "2053", "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": 4.377e-05, "gnomad_AFR_maf": 0.000123, "gnomad_AMR_maf": 5.788e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 5.279e-05, "gnomad_OTH_maf": 0.000163, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.358521, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 110048443, "genomic_position_hg38": 109727240, "chromosome": "6", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:52.943858", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.421C>T", "protein_change": "p.Arg141Trp", "transcript_id": "NM_014845", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI950" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2053/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2053/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2053/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2053/gene/?format=api" }, "data": { "type": "Gene", "id": "FIG4" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2053/?format=api" } }, { "type": "SmallVariant", "id": "2055", "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": 2.37041, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 110056393, "genomic_position_hg38": 109735190, "chromosome": "6", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:52.956391", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.538A>G", "protein_change": "p.Thr180Ala", "transcript_id": "NM_014845", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI951" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2055/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2055/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2055/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2055/gene/?format=api" }, "data": { "type": "Gene", "id": "FIG4" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2055/?format=api" } }, { "type": "SmallVariant", "id": "2089", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0839, "KGP_genomes_AFR_maf": 0.2542, "KGP_genomes_AMR_maf": 0.036, "KGP_genomes_EAS_maf": 0.003, "KGP_genomes_EUR_maf": 0.0258, "KGP_genomes_SAS_maf": 0.0307, "gnomad_maf": 0.04348, "gnomad_AFR_maf": 0.2159, "gnomad_AMR_maf": 0.02483, "gnomad_ASJ_maf": 0.121, "gnomad_EAS_maf": 0.002693, "gnomad_FIN_maf": 0.01819, "gnomad_NFE_maf": 0.02973, "gnomad_OTH_maf": 0.03926, "gnomad_SAS_maf": 0.0415, "ESP_AA_maf": 0.2079, "ESP_EA_maf": 0.03593 }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": -0.284134, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 110146497, "genomic_position_hg38": 109825294, "chromosome": "6", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:53.144353", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.*29G>A", "protein_change": null, "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI966" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2089/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2089/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2089/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2089/gene/?format=api" }, "data": { "type": "Gene", "id": "FIG4" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2089/?format=api" } }, { "type": "SmallVariant", "id": "2197", "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": 0.0001195, "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": 2.642e-05, "gnomad_OTH_maf": 0.0003278, "gnomad_SAS_maf": 0.0008168, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.610153, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 110098253, "genomic_position_hg38": 109777050, "chromosome": "6", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:53.813364", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.1879A>G", "protein_change": "p.Thr627Ala", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1013" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2197/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2197/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2197/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2197/gene/?format=api" }, "data": { "type": "Gene", "id": "FIG4" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2197/?format=api" } }, { "type": "SmallVariant", "id": "3431", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0008, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.004, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0007044, "gnomad_AFR_maf": 0.0001231, "gnomad_AMR_maf": 0.0002024, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 9.249e-05, "gnomad_NFE_maf": 0.001443, "gnomad_OTH_maf": 0.0003263, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 0.485677, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 110110787, "genomic_position_hg38": 109789584, "chromosome": "6", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:25.337487", "ref_allele": "C", "alt_allele": "G", "cdna_change": "c.2097-10C>G", "protein_change": null, "transcript_id": "NM_014845.6", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1630" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3431/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3431/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3431/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3431/gene/?format=api" }, "data": { "type": "Gene", "id": "FIG4" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3431/?format=api" } }, { "type": "SmallVariant", "id": "3439", "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": 1.989e-05, "gnomad_AFR_maf": 6.152e-05, "gnomad_AMR_maf": 2.892e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 1.759e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 3.267e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.66303, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 110110816, "genomic_position_hg38": 109789613, "chromosome": "6", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:25.646273", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.2116G>A", "protein_change": "p.Val706Ile", "transcript_id": "NM_014845.6", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1635" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3439/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3439/combinations/?format=api" } }, "gene_name": { "links": { "self": 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"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": 11 } }{ "data": [ { "type": "SmallVariant", "id": "549", "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": 0.0, "KGP_genomes_SAS_maf": 0.001, "gnomad_maf": 5.569e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 2.891e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 8.797e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 9.799e-05, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0003488 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", 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