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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 2-224503678-CAG-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=224503678&ref=CAG&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 224503678,
"ref": "CAG",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "NM_001257198.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL3",
"gene_hgnc_id": 2553,
"hgvs_c": "c.1349_1350delCT",
"hgvs_p": "p.Ser450fs",
"transcript": "NM_003590.5",
"protein_id": "NP_003581.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 768,
"cds_start": 1349,
"cds_end": null,
"cds_length": 2307,
"cdna_start": 1704,
"cdna_end": null,
"cdna_length": 6756,
"mane_select": "ENST00000264414.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003590.5"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL3",
"gene_hgnc_id": 2553,
"hgvs_c": "c.1349_1350delCT",
"hgvs_p": "p.Ser450fs",
"transcript": "ENST00000264414.9",
"protein_id": "ENSP00000264414.4",
"transcript_support_level": 1,
"aa_start": 450,
"aa_end": null,
"aa_length": 768,
"cds_start": 1349,
"cds_end": null,
"cds_length": 2307,
"cdna_start": 1704,
"cdna_end": null,
"cdna_length": 6756,
"mane_select": "NM_003590.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264414.9"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL3",
"gene_hgnc_id": 2553,
"hgvs_c": "c.1277_1278delCT",
"hgvs_p": "p.Ser426fs",
"transcript": "ENST00000409096.5",
"protein_id": "ENSP00000387200.1",
"transcript_support_level": 1,
"aa_start": 426,
"aa_end": null,
"aa_length": 744,
"cds_start": 1277,
"cds_end": null,
"cds_length": 2235,
"cdna_start": 1421,
"cdna_end": null,
"cdna_length": 2701,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409096.5"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL3",
"gene_hgnc_id": 2553,
"hgvs_c": "c.1277_1278delCT",
"hgvs_p": "p.Ser426fs",
"transcript": "ENST00000409777.5",
"protein_id": "ENSP00000386525.1",
"transcript_support_level": 1,
"aa_start": 426,
"aa_end": null,
"aa_length": 744,
"cds_start": 1277,
"cds_end": null,
"cds_length": 2235,
"cdna_start": 1884,
"cdna_end": null,
"cdna_length": 3147,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409777.5"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL3",
"gene_hgnc_id": 2553,
"hgvs_c": "c.1367_1368delCT",
"hgvs_p": "p.Ser456fs",
"transcript": "NM_001257198.2",
"protein_id": "NP_001244127.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 774,
"cds_start": 1367,
"cds_end": null,
"cds_length": 2325,
"cdna_start": 1551,
"cdna_end": null,
"cdna_length": 6603,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001257198.2"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL3",
"gene_hgnc_id": 2553,
"hgvs_c": "c.1364_1365delCT",
"hgvs_p": "p.Ser455fs",
"transcript": "ENST00000967311.1",
"protein_id": "ENSP00000637370.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 773,
"cds_start": 1364,
"cds_end": null,
"cds_length": 2322,
"cdna_start": 1725,
"cdna_end": null,
"cdna_length": 4179,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967311.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL3",
"gene_hgnc_id": 2553,
"hgvs_c": "c.1343_1344delCT",
"hgvs_p": "p.Ser448fs",
"transcript": "ENST00000967315.1",
"protein_id": "ENSP00000637374.1",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 766,
"cds_start": 1343,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 1673,
"cdna_end": null,
"cdna_length": 2970,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967315.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL3",
"gene_hgnc_id": 2553,
"hgvs_c": "c.1235_1236delCT",
"hgvs_p": "p.Ser412fs",
"transcript": "ENST00000907241.1",
"protein_id": "ENSP00000577300.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 730,
"cds_start": 1235,
"cds_end": null,
"cds_length": 2193,
"cdna_start": 1593,
"cdna_end": null,
"cdna_length": 2885,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907241.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL3",
"gene_hgnc_id": 2553,
"hgvs_c": "c.1349_1350delCT",
"hgvs_p": "p.Ser450fs",
"transcript": "ENST00000927036.1",
"protein_id": "ENSP00000597095.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 723,
"cds_start": 1349,
"cds_end": null,
"cds_length": 2172,
"cdna_start": 1738,
"cdna_end": null,
"cdna_length": 2893,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927036.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL3",
"gene_hgnc_id": 2553,
"hgvs_c": "c.1151_1152delCT",
"hgvs_p": "p.Ser384fs",
"transcript": "NM_001257197.2",
"protein_id": "NP_001244126.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 702,
"cds_start": 1151,
"cds_end": null,
"cds_length": 2109,
"cdna_start": 1506,
"cdna_end": null,
"cdna_length": 6558,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001257197.2"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL3",
"gene_hgnc_id": 2553,
"hgvs_c": "c.1151_1152delCT",
"hgvs_p": "p.Ser384fs",
"transcript": "ENST00000344951.8",
"protein_id": "ENSP00000343601.4",
"transcript_support_level": 2,
"aa_start": 384,
"aa_end": null,
"aa_length": 702,
"cds_start": 1151,
"cds_end": null,
"cds_length": 2109,
"cdna_start": 1540,
"cdna_end": null,
"cdna_length": 6592,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000344951.8"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL3",
"gene_hgnc_id": 2553,
"hgvs_c": "c.1037_1038delCT",
"hgvs_p": "p.Ser346fs",
"transcript": "ENST00000927037.1",
"protein_id": "ENSP00000597096.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 664,
"cds_start": 1037,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 1426,
"cdna_end": null,
"cdna_length": 2686,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927037.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL3",
"gene_hgnc_id": 2553,
"hgvs_c": "c.521_522delCT",
"hgvs_p": "p.Ser174fs",
"transcript": "ENST00000967310.1",
"protein_id": "ENSP00000637369.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 492,
"cds_start": 521,
"cds_end": null,
"cds_length": 1479,
"cdna_start": 892,
"cdna_end": null,
"cdna_length": 3346,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967310.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL3",
"gene_hgnc_id": 2553,
"hgvs_c": "c.1316_1317delCT",
"hgvs_p": "p.Ser439fs",
"transcript": "XM_006712800.3",
"protein_id": "XP_006712863.2",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 757,
"cds_start": 1316,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 1427,
"cdna_end": null,
"cdna_length": 6479,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006712800.3"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL3",
"gene_hgnc_id": 2553,
"hgvs_c": "c.1307_1308delCT",
"hgvs_p": "p.Ser436fs",
"transcript": "XM_011511995.2",
"protein_id": "XP_011510297.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 754,
"cds_start": 1307,
"cds_end": null,
"cds_length": 2265,
"cdna_start": 1323,
"cdna_end": null,
"cdna_length": 6375,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511995.2"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL3",
"gene_hgnc_id": 2553,
"hgvs_c": "c.1157_1158delCT",
"hgvs_p": "p.Ser386fs",
"transcript": "XM_011511996.3",
"protein_id": "XP_011510298.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 704,
"cds_start": 1157,
"cds_end": null,
"cds_length": 2115,
"cdna_start": 1410,
"cdna_end": null,
"cdna_length": 6462,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511996.3"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL3",
"gene_hgnc_id": 2553,
"hgvs_c": "c.1157_1158delCT",
"hgvs_p": "p.Ser386fs",
"transcript": "XM_047446024.1",
"protein_id": "XP_047301980.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 704,
"cds_start": 1157,
"cds_end": null,
"cds_length": 2115,
"cdna_start": 1434,
"cdna_end": null,
"cdna_length": 6486,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446024.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "CUL3",
"gene_hgnc_id": 2553,
"hgvs_c": "c.1207-608_1207-607delCT",
"hgvs_p": null,
"transcript": "ENST00000927035.1",
"protein_id": "ENSP00000597094.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 711,
"cds_start": null,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2859,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927035.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CUL3",
"gene_hgnc_id": 2553,
"hgvs_c": "c.1009-608_1009-607delCT",
"hgvs_p": null,
"transcript": "ENST00000967314.1",
"protein_id": "ENSP00000637373.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 645,
"cds_start": null,
"cds_end": null,
"cds_length": 1938,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2658,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967314.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "CUL3",
"gene_hgnc_id": 2553,
"hgvs_c": "c.1206+2276_1206+2277delCT",
"hgvs_p": null,
"transcript": "ENST00000927034.1",
"protein_id": "ENSP00000597093.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 556,
"cds_start": null,
"cds_end": null,
"cds_length": 1671,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3550,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927034.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CUL3",
"gene_hgnc_id": 2553,
"hgvs_c": "c.379-21602_379-21601delCT",
"hgvs_p": null,
"transcript": "ENST00000967312.1",
"protein_id": "ENSP00000637371.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 280,
"cds_start": null,
"cds_end": null,
"cds_length": 843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2699,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967312.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CUL3",
"gene_hgnc_id": 2553,
"hgvs_c": "c.265-21602_265-21601delCT",
"hgvs_p": null,
"transcript": "ENST00000967313.1",
"protein_id": "ENSP00000637372.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 242,
"cds_start": null,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1453,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967313.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CUL3",
"gene_hgnc_id": 2553,
"hgvs_c": "c.379-29304_379-29303delCT",
"hgvs_p": null,
"transcript": "ENST00000907242.1",
"protein_id": "ENSP00000577301.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 169,
"cds_start": null,
"cds_end": null,
"cds_length": 510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1178,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907242.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL3",
"gene_hgnc_id": 2553,
"hgvs_c": "n.645_646delCT",
"hgvs_p": null,
"transcript": "ENST00000481135.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 754,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000481135.1"
}
],
"gene_symbol": "CUL3",
"gene_hgnc_id": 2553,
"dbsnp": "rs1553521389",
"frequency_reference_population": 6.948652e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.94865e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 7.759,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.02,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_001257198.2",
"gene_symbol": "CUL3",
"hgnc_id": 2553,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1367_1368delCT",
"hgvs_p": "p.Ser456fs"
}
],
"clinvar_disease": "Inborn genetic diseases,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2",
"phenotype_combined": "Inborn genetic diseases|not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}