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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: 10-88935225-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=88935225&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 88935225,
"ref": "A",
"alt": "G",
"effect": "stop_lost",
"transcript": "ENST00000224784.10",
"consequences": [
{
"aa_ref": "*",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTA2",
"gene_hgnc_id": 130,
"hgvs_c": "c.1132T>C",
"hgvs_p": "p.Ter378Glnext*?",
"transcript": "NM_001613.4",
"protein_id": "NP_001604.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 377,
"cds_start": 1132,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1198,
"cdna_end": null,
"cdna_length": 1349,
"mane_select": "ENST00000224784.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTA2",
"gene_hgnc_id": 130,
"hgvs_c": "c.1132T>C",
"hgvs_p": "p.Ter378Glnext*?",
"transcript": "ENST00000224784.10",
"protein_id": "ENSP00000224784.6",
"transcript_support_level": 1,
"aa_start": 378,
"aa_end": null,
"aa_length": 377,
"cds_start": 1132,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1198,
"cdna_end": null,
"cdna_length": 1349,
"mane_select": "NM_001613.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTA2",
"gene_hgnc_id": 130,
"hgvs_c": "c.1174T>C",
"hgvs_p": "p.Ter392Glnext*?",
"transcript": "ENST00000713598.1",
"protein_id": "ENSP00000518894.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 391,
"cds_start": 1174,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 1240,
"cdna_end": null,
"cdna_length": 1391,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTA2",
"gene_hgnc_id": 130,
"hgvs_c": "c.1132T>C",
"hgvs_p": "p.Ter378Glnext*?",
"transcript": "NM_001141945.3",
"protein_id": "NP_001135417.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 377,
"cds_start": 1132,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1554,
"cdna_end": null,
"cdna_length": 1705,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTA2",
"gene_hgnc_id": 130,
"hgvs_c": "c.1132T>C",
"hgvs_p": "p.Ter378Glnext*?",
"transcript": "NM_001320855.2",
"protein_id": "NP_001307784.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 377,
"cds_start": 1132,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1471,
"cdna_end": null,
"cdna_length": 1622,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTA2",
"gene_hgnc_id": 130,
"hgvs_c": "c.1132T>C",
"hgvs_p": "p.Ter378Glnext*?",
"transcript": "NM_001406462.1",
"protein_id": "NP_001393391.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 377,
"cds_start": 1132,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1629,
"cdna_end": null,
"cdna_length": 1780,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTA2",
"gene_hgnc_id": 130,
"hgvs_c": "c.1132T>C",
"hgvs_p": "p.Ter378Glnext*?",
"transcript": "NM_001406463.1",
"protein_id": "NP_001393392.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 377,
"cds_start": 1132,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1712,
"cdna_end": null,
"cdna_length": 1863,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTA2",
"gene_hgnc_id": 130,
"hgvs_c": "c.1132T>C",
"hgvs_p": "p.Ter378Glnext*?",
"transcript": "NM_001406464.1",
"protein_id": "NP_001393393.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 377,
"cds_start": 1132,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1343,
"cdna_end": null,
"cdna_length": 1494,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTA2",
"gene_hgnc_id": 130,
"hgvs_c": "c.1132T>C",
"hgvs_p": "p.Ter378Glnext*?",
"transcript": "ENST00000415557.2",
"protein_id": "ENSP00000396730.2",
"transcript_support_level": 3,
"aa_start": 378,
"aa_end": null,
"aa_length": 377,
"cds_start": 1132,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1556,
"cdna_end": null,
"cdna_length": 1694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTA2",
"gene_hgnc_id": 130,
"hgvs_c": "c.1132T>C",
"hgvs_p": "p.Ter378Glnext*?",
"transcript": "ENST00000458159.6",
"protein_id": "ENSP00000398239.2",
"transcript_support_level": 3,
"aa_start": 378,
"aa_end": null,
"aa_length": 377,
"cds_start": 1132,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1466,
"cdna_end": null,
"cdna_length": 1617,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTA2",
"gene_hgnc_id": 130,
"hgvs_c": "c.1132T>C",
"hgvs_p": "p.Ter378Glnext*?",
"transcript": "ENST00000713597.1",
"protein_id": "ENSP00000518893.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 377,
"cds_start": 1132,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1402,
"cdna_end": null,
"cdna_length": 1805,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTA2",
"gene_hgnc_id": 130,
"hgvs_c": "c.1132T>C",
"hgvs_p": "p.Ter378Glnext*?",
"transcript": "ENST00000713599.1",
"protein_id": "ENSP00000518895.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 377,
"cds_start": 1132,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1228,
"cdna_end": null,
"cdna_length": 1379,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTA2",
"gene_hgnc_id": 130,
"hgvs_c": "c.1132T>C",
"hgvs_p": "p.Ter378Glnext*?",
"transcript": "ENST00000713602.1",
"protein_id": "ENSP00000518898.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 377,
"cds_start": 1132,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1614,
"cdna_end": null,
"cdna_length": 1761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTA2",
"gene_hgnc_id": 130,
"hgvs_c": "c.1021T>C",
"hgvs_p": "p.Ter341Glnext*?",
"transcript": "NM_001406466.1",
"protein_id": "NP_001393395.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 340,
"cds_start": 1021,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 1087,
"cdna_end": null,
"cdna_length": 1238,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTA2",
"gene_hgnc_id": 130,
"hgvs_c": "c.1021T>C",
"hgvs_p": "p.Ter341Glnext*?",
"transcript": "ENST00000713600.1",
"protein_id": "ENSP00000518896.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 340,
"cds_start": 1021,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 1169,
"cdna_end": null,
"cdna_length": 1319,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTA2",
"gene_hgnc_id": 130,
"hgvs_c": "c.1003T>C",
"hgvs_p": "p.Ter335Glnext*?",
"transcript": "NM_001406467.1",
"protein_id": "NP_001393396.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 334,
"cds_start": 1003,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 1342,
"cdna_end": null,
"cdna_length": 1493,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTA2",
"gene_hgnc_id": 130,
"hgvs_c": "c.1003T>C",
"hgvs_p": "p.Ter335Glnext*?",
"transcript": "NM_001406468.1",
"protein_id": "NP_001393397.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 334,
"cds_start": 1003,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 1425,
"cdna_end": null,
"cdna_length": 1576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTA2",
"gene_hgnc_id": 130,
"hgvs_c": "c.1003T>C",
"hgvs_p": "p.Ter335Glnext*?",
"transcript": "NM_001406469.1",
"protein_id": "NP_001393398.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 334,
"cds_start": 1003,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 1069,
"cdna_end": null,
"cdna_length": 1220,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTA2",
"gene_hgnc_id": 130,
"hgvs_c": "c.1003T>C",
"hgvs_p": "p.Ter335Glnext*?",
"transcript": "ENST00000713601.1",
"protein_id": "ENSP00000518897.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 334,
"cds_start": 1003,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 1154,
"cdna_end": null,
"cdna_length": 1304,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTA2",
"gene_hgnc_id": 130,
"hgvs_c": "c.940T>C",
"hgvs_p": "p.Ter314Glnext*?",
"transcript": "NM_001406471.1",
"protein_id": "NP_001393400.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 313,
"cds_start": 940,
"cds_end": null,
"cds_length": 942,
"cdna_start": 1362,
"cdna_end": null,
"cdna_length": 1513,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTA2-AS1",
"gene_hgnc_id": 45169,
"hgvs_c": "n.891A>G",
"hgvs_p": null,
"transcript": "ENST00000437930.4",
"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": 2450,
"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": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTA2",
"gene_hgnc_id": 130,
"hgvs_c": "n.2728T>C",
"hgvs_p": null,
"transcript": "ENST00000480297.6",
"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": 2828,
"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": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTA2",
"gene_hgnc_id": 130,
"hgvs_c": "n.*591T>C",
"hgvs_p": null,
"transcript": "ENST00000713603.1",
"protein_id": "ENSP00000518899.1",
"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,
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"cdna_length": 1348,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTA2-AS1",
"gene_hgnc_id": 45169,
"hgvs_c": "n.850A>G",
"hgvs_p": null,
"transcript": "NR_125373.1",
"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,
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"cdna_length": 2043,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTA2",
"gene_hgnc_id": 130,
"hgvs_c": "n.*591T>C",
"hgvs_p": null,
"transcript": "ENST00000713603.1",
"protein_id": "ENSP00000518899.1",
"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": 1348,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "STAMBPL1",
"gene_hgnc_id": 24105,
"hgvs_c": "c.1254+12789A>G",
"hgvs_p": null,
"transcript": "ENST00000371927.7",
"protein_id": "ENSP00000360995.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 461,
"cds_start": -4,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4184,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ACTA2",
"gene_hgnc_id": 130,
"dbsnp": "rs878854465",
"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": -0.27000001072883606,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.27,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 9.239,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PM4",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PM4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000224784.10",
"gene_symbol": "ACTA2",
"hgnc_id": 130,
"effects": [
"stop_lost"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.1132T>C",
"hgvs_p": "p.Ter378Glnext*?"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000437930.4",
"gene_symbol": "ACTA2-AS1",
"hgnc_id": 45169,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.891A>G",
"hgvs_p": null
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000371927.7",
"gene_symbol": "STAMBPL1",
"hgnc_id": 24105,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1254+12789A>G",
"hgvs_p": null
}
],
"clinvar_disease": " familial thoracic 6,ACTA2-related disorder,Aortic aneurysm,Cardiovascular phenotype,Familial thoracic aortic aneurysm and aortic dissection,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:7",
"phenotype_combined": "Aortic aneurysm, familial thoracic 6|Familial thoracic aortic aneurysm and aortic dissection|Cardiovascular phenotype|not provided|ACTA2-related disorder",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}