Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/MEFV/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "884", "attributes": { "frequencies": { "KGP_genomes_maf": 0.1264, "KGP_genomes_AFR_maf": 0.0204, "KGP_genomes_AMR_maf": 0.0115, "KGP_genomes_EAS_maf": 0.2887, "KGP_genomes_EUR_maf": 0.0089, "KGP_genomes_SAS_maf": 0.3047, "gnomad_maf": 0.0711, "gnomad_AFR_maf": 0.01462, "gnomad_AMR_maf": 0.01307, "gnomad_ASJ_maf": 0.05566, "gnomad_EAS_maf": 0.2912, "gnomad_FIN_maf": 0.001864, "gnomad_NFE_maf": 0.01388, "gnomad_OTH_maf": 0.04475, "gnomad_SAS_maf": 0.2842, "ESP_AA_maf": 0.0104, "ESP_EA_maf": 0.01161 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 1.870492, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 3304626, "genomic_position_hg38": 3254626, "chromosome": "16", "annotation_flag": "automatically_attributed", "lastmodified": "2024-01-12T14:28:54.649487", "ref_allele": "C", "alt_allele": "G", "cdna_change": "c.442G>A", "protein_change": "p.Glu148Gln", "transcript_id": "NM_000243.3", "dbsnp_id": "rs3743930", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI412" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/884/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/884/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/884/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/884/gene/?format=api" }, "data": { "type": "Gene", "id": "MEFV" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/884/?format=api" } }, { "type": "SmallVariant", "id": "54", "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": 2.668109, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 3304446, "genomic_position_hg38": 3254446, "chromosome": "16", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:40.848138", "ref_allele": "T", "alt_allele": "A", "cdna_change": "c.622A>T", "protein_change": "p.Ser208Cys", "transcript_id": "NM_000243.2", "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI026" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/54/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/54/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/54/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/54/gene/?format=api" }, "data": { "type": "Gene", "id": "MEFV" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/54/?format=api" } }, { "type": "SmallVariant", "id": "882", "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": 0.002167, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0002313, "gnomad_ASJ_maf": 0.03979, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0009318, "gnomad_OTH_maf": 0.004399, "gnomad_SAS_maf": 9.799e-05, "ESP_AA_maf": 0.0002276, "ESP_EA_maf": 0.002674 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": -0.598378, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 3293310, "genomic_position_hg38": 3243310, "chromosome": "16", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:45.782521", "ref_allele": "A", "alt_allele": "G", "cdna_change": null, "protein_change": "p.Val726Ala", "transcript_id": null, "dbsnp_id": "rs28940579", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI411" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/882/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/882/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/882/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/882/gene/?format=api" }, "data": { "type": "Gene", "id": "MEFV" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/882/?format=api" } }, { "type": "SmallVariant", "id": "886", "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": 0.0002823, "gnomad_AFR_maf": 6.152e-05, "gnomad_AMR_maf": 0.0002602, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0004835, "gnomad_OTH_maf": 0.0009775, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0003488 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 0.633726, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 3293407, "genomic_position_hg38": 3243407, "chromosome": "16", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:45.808485", "ref_allele": "T", "alt_allele": "C", "cdna_change": null, "protein_change": "p.Met694Val", "transcript_id": null, "dbsnp_id": "rs61752717", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI413" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/886/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/886/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/886/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/886/gene/?format=api" }, "data": { "type": "Gene", "id": "MEFV" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/886/?format=api" } }, { "type": "SmallVariant", "id": "2450", "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": 3.984e-06, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 4.622e-05, "gnomad_NFE_maf": 0.0, "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": "Possibly Damaging", "cadd_prediction": 3.023124, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 3293875, "genomic_position_hg38": 3243875, "chromosome": "16", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:55.327941", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1777G>A", "protein_change": "p.Ala593Thr", "transcript_id": "NM_000243.3", "dbsnp_id": "rs375665850", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1138" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2450/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2450/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2450/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2450/gene/?format=api" }, "data": { "type": "Gene", "id": "MEFV" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2450/?format=api" } }, { "type": "SmallVariant", "id": "2456", "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": 7.964e-06, "gnomad_AFR_maf": 0.0001231, "gnomad_AMR_maf": 0.0, "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": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 4.959701, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 3306386, "genomic_position_hg38": 3256386, "chromosome": "16", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:55.364038", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.202C>T", "protein_change": "p.Gln68Ter", "transcript_id": "NM_001198536", "dbsnp_id": "rs768473920", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1141" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2456/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2456/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2456/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2456/gene/?format=api" }, "data": { "type": "Gene", "id": "MEFV" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2456/?format=api" } }, { "type": "SmallVariant", "id": "3715", "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": 0.0, "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": 0.0, "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": "Benign", "cadd_prediction": 1.511821, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 3304626, "genomic_position_hg38": 3254626, "chromosome": "16", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:34.454458", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.442G>A", "protein_change": "p.Glu148Gln", "transcript_id": "NM_000243.3", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 5 }, "data": [ { "type": "Combination", "id": "OLI1750" }, { "type": "Combination", "id": "OLI1752" }, { "type": "Combination", "id": "OLI1754" }, { "type": "Combination", "id": "OLI1756" }, { "type": "Combination", "id": "OLI1789" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3715/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3715/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3715/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3715/gene/?format=api" }, "data": { "type": "Gene", "id": "MEFV" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3715/?format=api" } }, { "type": "SmallVariant", "id": "3717", "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": 1.991e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.000272, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0, "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": 0.214698, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 3293879, "genomic_position_hg38": 3243879, "chromosome": "16", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:34.525821", "ref_allele": "A", "alt_allele": "C", "cdna_change": "c.1773T>G", "protein_change": "p.Ile591Met", "transcript_id": "NM_000243.3", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI1751" }, { "type": "Combination", "id": "OLI1781" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3717/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3717/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3717/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3717/gene/?format=api" }, "data": { "type": "Gene", "id": "MEFV" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3717/?format=api" } }, { "type": "SmallVariant", "id": "3720", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0018, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0029, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.007, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.005245, "gnomad_AFR_maf": 0.0001845, "gnomad_AMR_maf": 0.001561, "gnomad_ASJ_maf": 0.009127, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.01626, "gnomad_NFE_maf": 0.006804, "gnomad_OTH_maf": 0.00668, "gnomad_SAS_maf": 9.799e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.157052, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 3293403, "genomic_position_hg38": 3243403, "chromosome": "16", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:34.655139", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.2084A>G", "protein_change": "p.Lys695Arg", "transcript_id": "NM_000243.3", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 3 }, "data": [ { "type": "Combination", "id": "OLI1753" }, { "type": "Combination", "id": "OLI1777" }, { "type": "Combination", "id": "OLI1784" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3720/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3720/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3720/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3720/gene/?format=api" }, "data": { "type": "Gene", "id": "MEFV" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3720/?format=api" } }, { "type": "SmallVariant", "id": "3721", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0202, "KGP_genomes_AFR_maf": 0.0023, "KGP_genomes_AMR_maf": 0.0072, "KGP_genomes_EAS_maf": 0.0675, "KGP_genomes_EUR_maf": 0.004, "KGP_genomes_SAS_maf": 0.0215, "gnomad_maf": 0.01456, "gnomad_AFR_maf": 0.004375, "gnomad_AMR_maf": 0.006102, "gnomad_ASJ_maf": 0.0288, "gnomad_EAS_maf": 0.07002, "gnomad_FIN_maf": 0.01493, "gnomad_NFE_maf": 0.008144, "gnomad_OTH_maf": 0.01224, "gnomad_SAS_maf": 0.01542, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 0.994016, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 3299586, "genomic_position_hg38": 3249586, "chromosome": "16", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:34.714055", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.1105C>T", "protein_change": "p.Pro369Ser", "transcript_id": "NM_000243.3", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 4 }, "data": [ { "type": "Combination", "id": "OLI1754" }, { "type": "Combination", "id": "OLI1759" }, { "type": "Combination", "id": "OLI1776" }, { "type": "Combination", "id": "OLI1789" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3721/relationships/in_combination?format=api", "related": 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