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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: 2-224497809-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=224497809&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 224497809,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "NM_001257198.2",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL3",
"gene_hgnc_id": 2553,
"hgvs_c": "c.1651C>T",
"hgvs_p": "p.Gln551*",
"transcript": "NM_003590.5",
"protein_id": "NP_003581.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 768,
"cds_start": 1651,
"cds_end": null,
"cds_length": 2307,
"cdna_start": 2005,
"cdna_end": null,
"cdna_length": 6756,
"mane_select": "ENST00000264414.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003590.5"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL3",
"gene_hgnc_id": 2553,
"hgvs_c": "c.1651C>T",
"hgvs_p": "p.Gln551*",
"transcript": "ENST00000264414.9",
"protein_id": "ENSP00000264414.4",
"transcript_support_level": 1,
"aa_start": 551,
"aa_end": null,
"aa_length": 768,
"cds_start": 1651,
"cds_end": null,
"cds_length": 2307,
"cdna_start": 2005,
"cdna_end": null,
"cdna_length": 6756,
"mane_select": "NM_003590.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264414.9"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL3",
"gene_hgnc_id": 2553,
"hgvs_c": "c.1579C>T",
"hgvs_p": "p.Gln527*",
"transcript": "ENST00000409096.5",
"protein_id": "ENSP00000387200.1",
"transcript_support_level": 1,
"aa_start": 527,
"aa_end": null,
"aa_length": 744,
"cds_start": 1579,
"cds_end": null,
"cds_length": 2235,
"cdna_start": 1722,
"cdna_end": null,
"cdna_length": 2701,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409096.5"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL3",
"gene_hgnc_id": 2553,
"hgvs_c": "c.1579C>T",
"hgvs_p": "p.Gln527*",
"transcript": "ENST00000409777.5",
"protein_id": "ENSP00000386525.1",
"transcript_support_level": 1,
"aa_start": 527,
"aa_end": null,
"aa_length": 744,
"cds_start": 1579,
"cds_end": null,
"cds_length": 2235,
"cdna_start": 2185,
"cdna_end": null,
"cdna_length": 3147,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409777.5"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL3",
"gene_hgnc_id": 2553,
"hgvs_c": "c.1669C>T",
"hgvs_p": "p.Gln557*",
"transcript": "NM_001257198.2",
"protein_id": "NP_001244127.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 774,
"cds_start": 1669,
"cds_end": null,
"cds_length": 2325,
"cdna_start": 1852,
"cdna_end": null,
"cdna_length": 6603,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001257198.2"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL3",
"gene_hgnc_id": 2553,
"hgvs_c": "c.1666C>T",
"hgvs_p": "p.Gln556*",
"transcript": "ENST00000967311.1",
"protein_id": "ENSP00000637370.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 773,
"cds_start": 1666,
"cds_end": null,
"cds_length": 2322,
"cdna_start": 2026,
"cdna_end": null,
"cdna_length": 4179,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967311.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL3",
"gene_hgnc_id": 2553,
"hgvs_c": "c.1645C>T",
"hgvs_p": "p.Gln549*",
"transcript": "ENST00000967315.1",
"protein_id": "ENSP00000637374.1",
"transcript_support_level": null,
"aa_start": 549,
"aa_end": null,
"aa_length": 766,
"cds_start": 1645,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 1974,
"cdna_end": null,
"cdna_length": 2970,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967315.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL3",
"gene_hgnc_id": 2553,
"hgvs_c": "c.1537C>T",
"hgvs_p": "p.Gln513*",
"transcript": "ENST00000907241.1",
"protein_id": "ENSP00000577300.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 730,
"cds_start": 1537,
"cds_end": null,
"cds_length": 2193,
"cdna_start": 1894,
"cdna_end": null,
"cdna_length": 2885,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907241.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL3",
"gene_hgnc_id": 2553,
"hgvs_c": "c.1651C>T",
"hgvs_p": "p.Gln551*",
"transcript": "ENST00000927036.1",
"protein_id": "ENSP00000597095.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 723,
"cds_start": 1651,
"cds_end": null,
"cds_length": 2172,
"cdna_start": 2039,
"cdna_end": null,
"cdna_length": 2893,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927036.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL3",
"gene_hgnc_id": 2553,
"hgvs_c": "c.1480C>T",
"hgvs_p": "p.Gln494*",
"transcript": "ENST00000927035.1",
"protein_id": "ENSP00000597094.1",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 711,
"cds_start": 1480,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 1863,
"cdna_end": null,
"cdna_length": 2859,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927035.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL3",
"gene_hgnc_id": 2553,
"hgvs_c": "c.1453C>T",
"hgvs_p": "p.Gln485*",
"transcript": "NM_001257197.2",
"protein_id": "NP_001244126.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 702,
"cds_start": 1453,
"cds_end": null,
"cds_length": 2109,
"cdna_start": 1807,
"cdna_end": null,
"cdna_length": 6558,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001257197.2"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL3",
"gene_hgnc_id": 2553,
"hgvs_c": "c.1453C>T",
"hgvs_p": "p.Gln485*",
"transcript": "ENST00000344951.8",
"protein_id": "ENSP00000343601.4",
"transcript_support_level": 2,
"aa_start": 485,
"aa_end": null,
"aa_length": 702,
"cds_start": 1453,
"cds_end": null,
"cds_length": 2109,
"cdna_start": 1841,
"cdna_end": null,
"cdna_length": 6592,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000344951.8"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL3",
"gene_hgnc_id": 2553,
"hgvs_c": "c.1339C>T",
"hgvs_p": "p.Gln447*",
"transcript": "ENST00000927037.1",
"protein_id": "ENSP00000597096.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 664,
"cds_start": 1339,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 1727,
"cdna_end": null,
"cdna_length": 2686,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927037.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL3",
"gene_hgnc_id": 2553,
"hgvs_c": "c.1282C>T",
"hgvs_p": "p.Gln428*",
"transcript": "ENST00000967314.1",
"protein_id": "ENSP00000637373.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 645,
"cds_start": 1282,
"cds_end": null,
"cds_length": 1938,
"cdna_start": 1658,
"cdna_end": null,
"cdna_length": 2658,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967314.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL3",
"gene_hgnc_id": 2553,
"hgvs_c": "c.823C>T",
"hgvs_p": "p.Gln275*",
"transcript": "ENST00000967310.1",
"protein_id": "ENSP00000637369.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 492,
"cds_start": 823,
"cds_end": null,
"cds_length": 1479,
"cdna_start": 1193,
"cdna_end": null,
"cdna_length": 3346,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967310.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL3",
"gene_hgnc_id": 2553,
"hgvs_c": "c.10C>T",
"hgvs_p": "p.Gln4*",
"transcript": "ENST00000451538.1",
"protein_id": "ENSP00000410575.1",
"transcript_support_level": 5,
"aa_start": 4,
"aa_end": null,
"aa_length": 110,
"cds_start": 10,
"cds_end": null,
"cds_length": 333,
"cdna_start": 11,
"cdna_end": null,
"cdna_length": 546,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000451538.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL3",
"gene_hgnc_id": 2553,
"hgvs_c": "c.1618C>T",
"hgvs_p": "p.Gln540*",
"transcript": "XM_006712800.3",
"protein_id": "XP_006712863.2",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 757,
"cds_start": 1618,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 1728,
"cdna_end": null,
"cdna_length": 6479,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006712800.3"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL3",
"gene_hgnc_id": 2553,
"hgvs_c": "c.1609C>T",
"hgvs_p": "p.Gln537*",
"transcript": "XM_011511995.2",
"protein_id": "XP_011510297.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 754,
"cds_start": 1609,
"cds_end": null,
"cds_length": 2265,
"cdna_start": 1624,
"cdna_end": null,
"cdna_length": 6375,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511995.2"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL3",
"gene_hgnc_id": 2553,
"hgvs_c": "c.1459C>T",
"hgvs_p": "p.Gln487*",
"transcript": "XM_011511996.3",
"protein_id": "XP_011510298.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 704,
"cds_start": 1459,
"cds_end": null,
"cds_length": 2115,
"cdna_start": 1711,
"cdna_end": null,
"cdna_length": 6462,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511996.3"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL3",
"gene_hgnc_id": 2553,
"hgvs_c": "c.1459C>T",
"hgvs_p": "p.Gln487*",
"transcript": "XM_047446024.1",
"protein_id": "XP_047301980.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 704,
"cds_start": 1459,
"cds_end": null,
"cds_length": 2115,
"cdna_start": 1735,
"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": 11,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "CUL3",
"gene_hgnc_id": 2553,
"hgvs_c": "c.1206+8147C>T",
"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.379-15731C>T",
"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,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
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"gene_symbol": "CUL3",
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"hgvs_c": "c.265-15731C>T",
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"transcript": "ENST00000967313.1",
"protein_id": "ENSP00000637372.1",
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"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"
},
{
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"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.379-23433C>T",
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"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL3",
"gene_hgnc_id": 2553,
"hgvs_c": "n.76C>T",
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"transcript": "ENST00000487558.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 1093,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000487558.1"
}
],
"gene_symbol": "CUL3",
"gene_hgnc_id": 2553,
"dbsnp": "rs1553602498",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6420000195503235,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "REVEL",
"splice_score_selected": 0.15000000596046448,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.642,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.66,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.984,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.15,
"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": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "NM_001257198.2",
"gene_symbol": "CUL3",
"hgnc_id": 2553,
"effects": [
"stop_gained"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1669C>T",
"hgvs_p": "p.Gln557*"
}
],
"clinvar_disease": "Inborn genetic diseases,Neurodevelopmental delay",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "P:1 US:1",
"phenotype_combined": "Inborn genetic diseases|Neurodevelopmental delay",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}