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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: 11-62690416-TCAGAG-CTGAAC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=62690416&ref=TCAGAG&alt=CTGAAC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 62690416,
"ref": "TCAGAG",
"alt": "CTGAAC",
"effect": "missense_variant",
"transcript": "NM_001122955.4",
"consequences": [
{
"aa_ref": "SSE",
"aa_alt": "RFR",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "c.1335_1340delCTCTGAinsGTTCAG",
"hgvs_p": "p.SerSerGlu445ArgPheArg",
"transcript": "NM_001122955.4",
"protein_id": "NP_001116427.1",
"transcript_support_level": null,
"aa_start": 445,
"aa_end": null,
"aa_length": 462,
"cds_start": 1335,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 1569,
"cdna_end": null,
"cdna_length": 1710,
"mane_select": "ENST00000360796.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SSE",
"aa_alt": "RFR",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "c.1335_1340delCTCTGAinsGTTCAG",
"hgvs_p": "p.SerSerGlu445ArgPheArg",
"transcript": "ENST00000360796.10",
"protein_id": "ENSP00000354032.5",
"transcript_support_level": 1,
"aa_start": 445,
"aa_end": null,
"aa_length": 462,
"cds_start": 1335,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 1569,
"cdna_end": null,
"cdna_length": 1710,
"mane_select": "NM_001122955.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SSE",
"aa_alt": "RFR",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "c.1341_1346delCTCTGAinsGTTCAG",
"hgvs_p": "p.SerSerGlu447ArgPheArg",
"transcript": "ENST00000405837.5",
"protein_id": "ENSP00000385332.1",
"transcript_support_level": 1,
"aa_start": 447,
"aa_end": null,
"aa_length": 464,
"cds_start": 1341,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 1843,
"cdna_end": null,
"cdna_length": 1984,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SSE",
"aa_alt": "RFR",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "c.1143_1148delCTCTGAinsGTTCAG",
"hgvs_p": "p.SerSerGlu381ArgPheArg",
"transcript": "ENST00000407022.7",
"protein_id": "ENSP00000384080.3",
"transcript_support_level": 1,
"aa_start": 381,
"aa_end": null,
"aa_length": 398,
"cds_start": 1143,
"cds_end": null,
"cds_length": 1197,
"cdna_start": 1395,
"cdna_end": null,
"cdna_length": 1516,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPUL2-BSCL2",
"gene_hgnc_id": 49189,
"hgvs_c": "n.*1386_*1391delCTCTGAinsGTTCAG",
"hgvs_p": null,
"transcript": "ENST00000403734.2",
"protein_id": "ENSP00000456010.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPUL2-BSCL2",
"gene_hgnc_id": 49189,
"hgvs_c": "n.*1386_*1391delCTCTGAinsGTTCAG",
"hgvs_p": null,
"transcript": "ENST00000403734.2",
"protein_id": "ENSP00000456010.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SSE",
"aa_alt": "RFR",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "c.1344_1349delCTCTGAinsGTTCAG",
"hgvs_p": "p.SerSerGlu448ArgPheArg",
"transcript": "ENST00000683296.1",
"protein_id": "ENSP00000507725.1",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 465,
"cds_start": 1344,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 1741,
"cdna_end": null,
"cdna_length": 1882,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SSE",
"aa_alt": "RFR",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "c.1341_1346delCTCTGAinsGTTCAG",
"hgvs_p": "p.SerSerGlu447ArgPheArg",
"transcript": "NM_001386027.1",
"protein_id": "NP_001372956.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 464,
"cds_start": 1341,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 1866,
"cdna_end": null,
"cdna_length": 2007,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SSE",
"aa_alt": "RFR",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "c.1335_1340delCTCTGAinsGTTCAG",
"hgvs_p": "p.SerSerGlu445ArgPheArg",
"transcript": "NM_001386028.1",
"protein_id": "NP_001372957.1",
"transcript_support_level": null,
"aa_start": 445,
"aa_end": null,
"aa_length": 462,
"cds_start": 1335,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 1860,
"cdna_end": null,
"cdna_length": 2001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SSE",
"aa_alt": "RFR",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "c.1335_1340delCTCTGAinsGTTCAG",
"hgvs_p": "p.SerSerGlu445ArgPheArg",
"transcript": "ENST00000524862.6",
"protein_id": "ENSP00000433888.2",
"transcript_support_level": 5,
"aa_start": 445,
"aa_end": null,
"aa_length": 462,
"cds_start": 1335,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 1742,
"cdna_end": null,
"cdna_length": 1863,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SSE",
"aa_alt": "RFR",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "c.1335_1340delCTCTGAinsGTTCAG",
"hgvs_p": "p.SerSerGlu445ArgPheArg",
"transcript": "ENST00000679883.1",
"protein_id": "ENSP00000505838.1",
"transcript_support_level": null,
"aa_start": 445,
"aa_end": null,
"aa_length": 462,
"cds_start": 1335,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 1860,
"cdna_end": null,
"cdna_length": 2001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SSE",
"aa_alt": "RFR",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "c.1293_1298delCTCTGAinsGTTCAG",
"hgvs_p": "p.SerSerGlu431ArgPheArg",
"transcript": "ENST00000684067.1",
"protein_id": "ENSP00000506799.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 448,
"cds_start": 1293,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 1690,
"cdna_end": null,
"cdna_length": 1818,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SSE",
"aa_alt": "RFR",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "c.1200_1205delCTCTGAinsGTTCAG",
"hgvs_p": "p.SerSerGlu400ArgPheArg",
"transcript": "ENST00000684475.1",
"protein_id": "ENSP00000507429.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 417,
"cds_start": 1200,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 1597,
"cdna_end": null,
"cdna_length": 2724,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SSE",
"aa_alt": "RFR",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "c.1143_1148delCTCTGAinsGTTCAG",
"hgvs_p": "p.SerSerGlu381ArgPheArg",
"transcript": "NM_032667.6",
"protein_id": "NP_116056.3",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 398,
"cds_start": 1143,
"cds_end": null,
"cds_length": 1197,
"cdna_start": 1366,
"cdna_end": null,
"cdna_length": 1520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SSE",
"aa_alt": "RFR",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "c.1143_1148delCTCTGAinsGTTCAG",
"hgvs_p": "p.SerSerGlu381ArgPheArg",
"transcript": "ENST00000403550.5",
"protein_id": "ENSP00000385561.1",
"transcript_support_level": 5,
"aa_start": 381,
"aa_end": null,
"aa_length": 398,
"cds_start": 1143,
"cds_end": null,
"cds_length": 1197,
"cdna_start": 1572,
"cdna_end": null,
"cdna_length": 1693,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SSE",
"aa_alt": "RFR",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "c.1143_1148delCTCTGAinsGTTCAG",
"hgvs_p": "p.SerSerGlu381ArgPheArg",
"transcript": "ENST00000421906.5",
"protein_id": "ENSP00000413209.1",
"transcript_support_level": 5,
"aa_start": 381,
"aa_end": null,
"aa_length": 398,
"cds_start": 1143,
"cds_end": null,
"cds_length": 1197,
"cdna_start": 1339,
"cdna_end": null,
"cdna_length": 1440,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SSE",
"aa_alt": "RFR",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "c.843_848delCTCTGAinsGTTCAG",
"hgvs_p": "p.SerSerGlu281ArgPheArg",
"transcript": "ENST00000449636.6",
"protein_id": "ENSP00000405265.2",
"transcript_support_level": 3,
"aa_start": 281,
"aa_end": null,
"aa_length": 298,
"cds_start": 843,
"cds_end": null,
"cds_length": 897,
"cdna_start": 1254,
"cdna_end": null,
"cdna_length": 2381,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SSE",
"aa_alt": "RFR",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "c.186_191delCTCTGAinsGTTCAG",
"hgvs_p": "p.SerSerGlu62ArgPheArg",
"transcript": "ENST00000403098.6",
"protein_id": "ENSP00000384258.2",
"transcript_support_level": 5,
"aa_start": 62,
"aa_end": null,
"aa_length": 79,
"cds_start": 186,
"cds_end": null,
"cds_length": 240,
"cdna_start": 191,
"cdna_end": null,
"cdna_length": 326,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "n.*446_*451delCTCTGAinsGTTCAG",
"hgvs_p": null,
"transcript": "ENST00000301781.10",
"protein_id": "ENSP00000301781.5",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "n.1419_1424delCTCTGAinsGTTCAG",
"hgvs_p": null,
"transcript": "ENST00000463679.6",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1493,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "n.367_372delCTCTGAinsGTTCAG",
"hgvs_p": null,
"transcript": "ENST00000470529.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 512,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "n.1723_1728delCTCTGAinsGTTCAG",
"hgvs_p": null,
"transcript": "ENST00000682003.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
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"hgvs_p": null,
"transcript": "ENST00000684285.1",
"protein_id": "ENSP00000507669.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2777,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "n.*114_*119delCTCTGAinsGTTCAG",
"hgvs_p": null,
"transcript": "ENST00000412351.2",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1641,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"hgvs_c": "n.2162_*1delCTCTGAinsGTTCAG",
"hgvs_p": null,
"transcript": "ENST00000682644.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2166,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "BSCL2",
"gene_hgnc_id": 15832,
"dbsnp": null,
"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": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 3.76,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_001122955.4",
"gene_symbol": "BSCL2",
"hgnc_id": 15832,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1335_1340delCTCTGAinsGTTCAG",
"hgvs_p": "p.SerSerGlu445ArgPheArg"
},
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000403734.2",
"gene_symbol": "HNRNPUL2-BSCL2",
"hgnc_id": 49189,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*1386_*1391delCTCTGAinsGTTCAG",
"hgvs_p": null
}
],
"clinvar_disease": "Charcot-Marie-Tooth disease type 2",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Charcot-Marie-Tooth disease type 2",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}