Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/GNRHR/variants/?format=api
https://olida.ibsquare.be/api/variants/330/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/330/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/330/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/330/gene/?format=api" }, "data": { "type": "Gene", "id": "GNRHR" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/330/?format=api" } }, { "type": "SmallVariant", "id": "380", "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": 3.979e-06, "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": 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": "Damaging", "cadd_prediction": 2.783562, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 68619807, "genomic_position_hg38": 67754089, "chromosome": "4", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:42.749025", "ref_allele": "G", "alt_allele": "C", "cdna_change": "c.247C>G", "protein_change": "p.Leu83Val", "transcript_id": "NM_000406.2", "dbsnp_id": "rs1391808526", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI195" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/380/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/380/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/380/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/380/gene/?format=api" }, "data": { "type": "Gene", "id": "GNRHR" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/380/?format=api" } }, { "type": "SmallVariant", "id": "381", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0012, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.005, "KGP_genomes_SAS_maf": 0.001, "gnomad_maf": 0.002842, "gnomad_AFR_maf": 0.0005536, "gnomad_AMR_maf": 0.002343, "gnomad_ASJ_maf": 0.005858, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.001987, "gnomad_NFE_maf": 0.004183, "gnomad_OTH_maf": 0.002935, "gnomad_SAS_maf": 0.0009472, "ESP_AA_maf": 0.0006809, "ESP_EA_maf": 0.003488 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.003863, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 68619737, "genomic_position_hg38": 67754019, "chromosome": "4", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:42.755387", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.317A>G", "protein_change": "p.Gln106Arg", "transcript_id": "NM_000406.2", "dbsnp_id": "rs104893836", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 14 }, "data": [ { "type": "Combination", "id": "OLI195" }, { "type": "Combination", "id": "OLI199" }, { "type": "Combination", "id": "OLI1165" }, { "type": "Combination", "id": "OLI1239" }, { "type": "Combination", "id": "OLI1275" }, { "type": "Combination", "id": "OLI1277" }, { "type": "Combination", "id": "OLI1288" }, { "type": "Combination", "id": "OLI1296" }, { "type": "Combination", "id": "OLI1300" }, { "type": "Combination", "id": "OLI1377" }, { "type": "Combination", "id": "OLI1379" }, { "type": "Combination", "id": "OLI1385" }, { "type": "Combination", "id": "OLI1532" }, { "type": "Combination", "id": "OLI1604" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/381/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/381/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/381/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/381/gene/?format=api" }, "data": { "type": "Gene", "id": "GNRHR" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/381/?format=api" } }, { "type": "SmallVariant", "id": "387", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0006, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.002, "KGP_genomes_SAS_maf": 0.001, "gnomad_maf": 0.001786, "gnomad_AFR_maf": 0.000123, "gnomad_AMR_maf": 0.0002313, "gnomad_ASJ_maf": 9.934e-05, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.005314, "gnomad_NFE_maf": 0.002147, "gnomad_OTH_maf": 0.002124, "gnomad_SAS_maf": 0.002156, "ESP_AA_maf": 0.000227, "ESP_EA_maf": 0.002209 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.259471, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 68606400, "genomic_position_hg38": 67740682, "chromosome": "4", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:42.792733", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.785G>A", "protein_change": "p.Arg262Gln", "transcript_id": "NM_000406.2", "dbsnp_id": "rs104893837", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 5 }, "data": [ { "type": "Combination", "id": "OLI1166" }, { "type": "Combination", "id": "OLI1403" }, { "type": "Combination", "id": "OLI1590" }, { "type": "Combination", "id": "OLI198" }, { "type": "Combination", "id": "OLI199" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/387/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/387/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/387/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/387/gene/?format=api" }, "data": { "type": "Gene", "id": "GNRHR" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/387/?format=api" } }, { "type": "SmallVariant", "id": "391", "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": 3.581e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0002602, "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": "Damaging", "cadd_prediction": 3.96538, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 68619786, "genomic_position_hg38": 67754068, "chromosome": "4", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:42.817731", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.268G>A", "protein_change": "p.Glu90Lys", "transcript_id": "NM_000406.2", "dbsnp_id": "rs104893844", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI201" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/391/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/391/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/391/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/391/gene/?format=api" }, "data": { "type": "Gene", "id": "GNRHR" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/391/?format=api" } }, { "type": "SmallVariant", "id": "401", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0014, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0069, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0004502, "gnomad_AFR_maf": 6.16e-05, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.004947, "gnomad_FIN_maf": 9.24e-05, "gnomad_NFE_maf": 8.821e-05, "gnomad_OTH_maf": 0.0001633, "gnomad_SAS_maf": 0.0002614, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 0.340337, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 68610309, "genomic_position_hg38": 67744591, "chromosome": "4", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:42.881281", "ref_allele": "C", "alt_allele": "T", "cdna_change": null, "protein_change": "p.Arg240Gln", "transcript_id": null, "dbsnp_id": "rs182531866", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 5 }, "data": [ { "type": "Combination", "id": "OLI207" }, { "type": "Combination", "id": "OLI851" }, { "type": "Combination", "id": "OLI866" }, { "type": "Combination", "id": "OLI896" }, { "type": "Combination", "id": "OLI902" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/401/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/401/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/401/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/401/gene/?format=api" }, "data": { "type": "Gene", "id": "GNRHR" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/401/?format=api" } }, { "type": "SmallVariant", "id": "915", "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": 3.740612, "mutationtaster_prediction": null }, "status": "CU", "genomic_position_hg19": 68610366, "genomic_position_hg38": 67744648, "chromosome": "4", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:45.994792", "ref_allele": "A", "alt_allele": "T", "cdna_change": "c.662T>A", "protein_change": "p.Ile221Asn", "transcript_id": "NM_000406.2", "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI428" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/915/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/915/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/915/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/915/gene/?format=api" }, "data": { "type": "Gene", "id": "GNRHR" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/915/?format=api" } }, { "type": "SmallVariant", "id": "1716", "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": 1.194e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 5.437e-05, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 1.762e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0001163 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.433714, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 68606379, "genomic_position_hg38": 67740661, "chromosome": "4", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:50.883328", "ref_allele": "G", "alt_allele": "A", "cdna_change": null, "protein_change": "p.Thr269Met", "transcript_id": null, "dbsnp_id": "rs369176613", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI780" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1716/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1716/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1716/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1716/gene/?format=api" }, "data": { "type": "Gene", "id": "GNRHR" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1716/?format=api" } }, { "type": "SmallVariant", "id": "2504", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0665, "KGP_genomes_AFR_maf": 0.087, "KGP_genomes_AMR_maf": 0.0908, "KGP_genomes_EAS_maf": 0.0069, "KGP_genomes_EUR_maf": 0.0815, "KGP_genomes_SAS_maf": 0.0675, "gnomad_maf": 0.0755, "gnomad_AFR_maf": 0.1042, "gnomad_AMR_maf": 0.09342, "gnomad_ASJ_maf": 0.08395, "gnomad_EAS_maf": 0.005715, "gnomad_FIN_maf": 0.03251, "gnomad_NFE_maf": 0.0905, "gnomad_OTH_maf": 0.0798, "gnomad_SAS_maf": 0.05322, "ESP_AA_maf": 0.1058, "ESP_EA_maf": 0.09919 }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 0.131336, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 68619601, "genomic_position_hg38": 67753883, "chromosome": "4", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:55.642475", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.453C>T", "protein_change": "p.Ser151=", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1165" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2504/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2504/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2504/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2504/gene/?format=api" }, "data": { "type": "Gene", "id": "GNRHR" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2504/?format=api" } }, { "type": "SmallVariant", "id": "2505", "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": 6.242447, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 68619712, "genomic_position_hg38": 67753994, "chromosome": "4", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:55.648595", "ref_allele": "G", "alt_allele": "T", "cdna_change": "c.342C>A", "protein_change": "p.Cys114Ter", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1166" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2505/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2505/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2505/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2505/gene/?format=api" }, "data": { "type": "Gene", "id": "GNRHR" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2505/?format=api" } }, { "type": "SmallVariant", "id": "2507", "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": 0.0001435, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0001159, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 5.44e-05, "gnomad_FIN_maf": 0.0005553, "gnomad_NFE_maf": 0.0001678, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0001163 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.287264, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 68619638, "genomic_position_hg38": 67753920, "chromosome": "4", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:55.660728", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.416G>A", "protein_change": "p.Arg139His", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1167" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2507/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2507/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2507/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2507/gene/?format=api" }, "data": { "type": "Gene", "id": "GNRHR" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2507/?format=api" } }, { "type": "SmallVariant", "id": "2508", "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": 0.82846, "mutationtaster_prediction": null }, "status": "CU", "genomic_position_hg19": 68620023, "genomic_position_hg38": 67754305, "chromosome": "4", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:55.666871", "ref_allele": "GA", "alt_allele": "TT", "cdna_change": "c.30_31delinsAA", "protein_change": "p.Asn10_Gln11delinsLysLys", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1167" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2508/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2508/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2508/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2508/gene/?format=api" }, "data": { "type": "Gene", "id": "GNRHR" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2508/?format=api" } }, { "type": "SmallVariant", "id": "2685", "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": 4.482804, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 68619676, "genomic_position_hg38": 67753958, "chromosome": "4", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:56.624482", "ref_allele": "A", "alt_allele": "T", "cdna_change": "c.378T>A", "protein_change": "p.Tyr126Ter", "transcript_id": "NM_000406.3", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1273" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2685/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2685/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2685/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2685/gene/?format=api" }, "data": { "type": "Gene", "id": "GNRHR" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2685/?format=api" } }, { "type": "SmallVariant", "id": "2690", "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": 0.0, "gnomad_NFE_maf": 8.821e-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": "Possibly Damaging", "cadd_prediction": 3.732641, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 68610310, "genomic_position_hg38": 67744592, "chromosome": "4", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:56.655976", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.718C>T", "protein_change": "p.Arg240Trp", "transcript_id": "NM_000406.3", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1275" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2690/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2690/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2690/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2690/gene/?format=api" }, "data": { "type": "Gene", "id": "GNRHR" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2690/?format=api" } }, { "type": "SmallVariant", "id": "2905", "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": 3.138068, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 68610392, "genomic_position_hg38": 67744674, "chromosome": "4", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:57.940190", "ref_allele": "G", "alt_allele": "T", "cdna_change": "c.636C>G", "protein_change": "p.Asn212Lys", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1385" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2905/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2905/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2905/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2905/gene/?format=api" }, "data": { "type": "Gene", "id": "GNRHR" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2905/?format=api" } }, { "type": "SmallVariant", "id": "2909", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0006, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.003, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.001268, "gnomad_AFR_maf": 0.0001846, "gnomad_AMR_maf": 0.003855, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0006943, "gnomad_NFE_maf": 0.001191, "gnomad_OTH_maf": 0.005241, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.296001, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 68619618, "genomic_position_hg38": 67753900, "chromosome": "4", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:57.964541", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.436C>T", "protein_change": "p.Pro146Ser", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI1387" }, { "type": "Combination", "id": "OLI1517" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2909/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2909/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2909/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2909/gene/?format=api" }, "data": { "type": "Gene", "id": "GNRHR" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2909/?format=api" } }, { "type": "SmallVariant", "id": "3364", "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": 0.0001291, "gnomad_AFR_maf": 6.462e-05, "gnomad_AMR_maf": 2.896e-05, "gnomad_ASJ_maf": 9.934e-05, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0002298, "gnomad_OTH_maf": 0.0004952, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 0.304691, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 68620023, "genomic_position_hg38": 67754305, "chromosome": "4", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.678985", "ref_allele": "G", "alt_allele": "T", "cdna_change": "c.31C>A", "protein_change": "p.Gln11Lys", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1595" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3364/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3364/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3364/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3364/gene/?format=api" }, "data": { "type": "Gene", "id": "GNRHR" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3364/?format=api" } }, { "type": "SmallVariant", "id": "3365", "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": 0.0001292, "gnomad_AFR_maf": 6.464e-05, "gnomad_AMR_maf": 2.896e-05, "gnomad_ASJ_maf": 9.934e-05, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0002297, "gnomad_OTH_maf": 0.0004952, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": -0.046613, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 68620024, "genomic_position_hg38": 67754306, "chromosome": "4", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.685281", "ref_allele": "A", "alt_allele": "T", "cdna_change": "c.30T>A", "protein_change": "p.Asn10Lys", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1595" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3365/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3365/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3365/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3365/gene/?format=api" }, "data": { "type": "Gene", "id": "GNRHR" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3365/?format=api" } }, { "type": "SmallVariant", "id": "3369", "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": 3.41649, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 68619704, "genomic_position_hg38": 67753986, "chromosome": "4", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.710757", "ref_allele": "A", "alt_allele": "C", "cdna_change": "c.350T>G", "protein_change": "p.Leu117Arg", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1597" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3369/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3369/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3369/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3369/gene/?format=api" }, "data": { "type": "Gene", "id": "GNRHR" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3369/?format=api" } }, { "type": "SmallVariant", "id": "3370", "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": 7.225938, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 68619788, "genomic_position_hg38": 67754070, "chromosome": "4", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.716888", "ref_allele": "A", "alt_allele": "T", "cdna_change": "c.266T>A", "protein_change": "p.Leu89Ter", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1597" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3370/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3370/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3370/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3370/gene/?format=api" }, "data": { "type": "Gene", "id": "GNRHR" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3370/?format=api" } }, { "type": "SmallVariant", "id": "3383", "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": 1.595e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0001087, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 1.768e-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": "Possibly Damaging", "cadd_prediction": 4.524368, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 68606401, "genomic_position_hg38": 67740683, "chromosome": "4", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.796504", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.784C>T", "protein_change": "p.Arg262Trp", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1604" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3383/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3383/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3383/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3383/gene/?format=api" }, "data": { "type": "Gene", "id": "GNRHR" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3383/?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": 21 } }{ "data": [ { "type": "SmallVariant", "id": "330", "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": 2.79e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0002027, "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": "Possibly Damaging", "cadd_prediction": 3.33248, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 68619653, "genomic_position_hg38": 67753935, "chromosome": "4", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:42.458236", "ref_allele": "A", "alt_allele": "C", "cdna_change": "c.401T>G", "protein_change": "p.Val134Gly", "transcript_id": "NM_000406.2", "dbsnp_id": "rs188272653", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI165" } ], "links": { "self": "