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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: 9-2039776-ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=2039776&ref=ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 2039776,
"ref": "ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG",
"alt": "A",
"effect": "disruptive_inframe_deletion",
"transcript": "ENST00000349721.8",
"consequences": [
{
"aa_ref": "QQQQQQQQQQQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.678_707delGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA",
"hgvs_p": "p.Gln227_Gln236del",
"transcript": "NM_003070.5",
"protein_id": "NP_003061.3",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 1590,
"cds_start": 678,
"cds_end": null,
"cds_length": 4773,
"cdna_start": 772,
"cdna_end": null,
"cdna_length": 5748,
"mane_select": "ENST00000349721.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQQQQQQQQ",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.678_707delGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA",
"hgvs_p": "p.Gln227_Gln236del",
"transcript": "ENST00000349721.8",
"protein_id": "ENSP00000265773.5",
"transcript_support_level": 5,
"aa_start": 226,
"aa_end": null,
"aa_length": 1590,
"cds_start": 678,
"cds_end": null,
"cds_length": 4773,
"cdna_start": 772,
"cdna_end": null,
"cdna_length": 5748,
"mane_select": "NM_003070.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQQQQQQQQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.678_707delGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA",
"hgvs_p": "p.Gln227_Gln236del",
"transcript": "ENST00000382203.5",
"protein_id": "ENSP00000371638.1",
"transcript_support_level": 1,
"aa_start": 226,
"aa_end": null,
"aa_length": 1590,
"cds_start": 678,
"cds_end": null,
"cds_length": 4773,
"cdna_start": 887,
"cdna_end": null,
"cdna_length": 5867,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQQQQQQQQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.678_707delGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA",
"hgvs_p": "p.Gln227_Gln236del",
"transcript": "ENST00000450198.6",
"protein_id": "ENSP00000392081.2",
"transcript_support_level": 1,
"aa_start": 226,
"aa_end": null,
"aa_length": 1514,
"cds_start": 678,
"cds_end": null,
"cds_length": 4545,
"cdna_start": 900,
"cdna_end": null,
"cdna_length": 5602,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQQQQQQQQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.678_707delGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA",
"hgvs_p": "p.Gln227_Gln236del",
"transcript": "NM_001289396.2",
"protein_id": "NP_001276325.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 1590,
"cds_start": 678,
"cds_end": null,
"cds_length": 4773,
"cdna_start": 887,
"cdna_end": null,
"cdna_length": 5863,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQQQQQQQQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.678_707delGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA",
"hgvs_p": "p.Gln227_Gln236del",
"transcript": "NM_139045.4",
"protein_id": "NP_620614.2",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 1572,
"cds_start": 678,
"cds_end": null,
"cds_length": 4719,
"cdna_start": 772,
"cdna_end": null,
"cdna_length": 5694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQQQQQQQQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.678_707delGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA",
"hgvs_p": "p.Gln227_Gln236del",
"transcript": "ENST00000357248.8",
"protein_id": "ENSP00000349788.2",
"transcript_support_level": 5,
"aa_start": 226,
"aa_end": null,
"aa_length": 1572,
"cds_start": 678,
"cds_end": null,
"cds_length": 4719,
"cdna_start": 933,
"cdna_end": null,
"cdna_length": 5855,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQQQQQQQQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.678_707delGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA",
"hgvs_p": "p.Gln227_Gln236del",
"transcript": "ENST00000382194.6",
"protein_id": "ENSP00000371629.1",
"transcript_support_level": 5,
"aa_start": 226,
"aa_end": null,
"aa_length": 1572,
"cds_start": 678,
"cds_end": null,
"cds_length": 4719,
"cdna_start": 800,
"cdna_end": null,
"cdna_length": 5679,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQQQQQQQQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.678_707delGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA",
"hgvs_p": "p.Gln227_Gln236del",
"transcript": "NM_001289397.2",
"protein_id": "NP_001276326.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 1514,
"cds_start": 678,
"cds_end": null,
"cds_length": 4545,
"cdna_start": 772,
"cdna_end": null,
"cdna_length": 5520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQQQQQQQQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.318_347delGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA",
"hgvs_p": "p.Gln107_Gln116del",
"transcript": "ENST00000704350.1",
"protein_id": "ENSP00000515861.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 1452,
"cds_start": 318,
"cds_end": null,
"cds_length": 4359,
"cdna_start": 410,
"cdna_end": null,
"cdna_length": 5332,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQQQQQQQQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.678_707delGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA",
"hgvs_p": "p.Gln227_Gln236del",
"transcript": "ENST00000637134.2",
"protein_id": "ENSP00000489667.2",
"transcript_support_level": 5,
"aa_start": 226,
"aa_end": null,
"aa_length": 1151,
"cds_start": 678,
"cds_end": null,
"cds_length": 3456,
"cdna_start": 1034,
"cdna_end": null,
"cdna_length": 3812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQQQQQQQQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.678_707delGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA",
"hgvs_p": "p.Gln227_Gln236del",
"transcript": "ENST00000704353.1",
"protein_id": "ENSP00000515864.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 654,
"cds_start": 678,
"cds_end": null,
"cds_length": 1965,
"cdna_start": 764,
"cdna_end": null,
"cdna_length": 2932,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQQQQQQQQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.678_707delGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA",
"hgvs_p": "p.Gln227_Gln236del",
"transcript": "ENST00000704352.1",
"protein_id": "ENSP00000515863.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 636,
"cds_start": 678,
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"cdna_start": 764,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQQQQQQQQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.678_707delGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA",
"hgvs_p": "p.Gln227_Gln236del",
"transcript": "ENST00000636903.1",
"protein_id": "ENSP00000489968.1",
"transcript_support_level": 5,
"aa_start": 226,
"aa_end": null,
"aa_length": 288,
"cds_start": 678,
"cds_end": null,
"cds_length": 867,
"cdna_start": 887,
"cdna_end": null,
"cdna_length": 2471,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.678_707delGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA",
"hgvs_p": "p.Gln227_Gln236del",
"transcript": "ENST00000637103.1",
"protein_id": "ENSP00000490486.1",
"transcript_support_level": 5,
"aa_start": 226,
"aa_end": null,
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"cds_start": 678,
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"cdna_start": 838,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQQQQQQQQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.678_707delGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA",
"hgvs_p": "p.Gln227_Gln236del",
"transcript": "ENST00000636559.1",
"protein_id": "ENSP00000490852.1",
"transcript_support_level": 2,
"aa_start": 226,
"aa_end": null,
"aa_length": 279,
"cds_start": 678,
"cds_end": null,
"cds_length": 840,
"cdna_start": 772,
"cdna_end": null,
"cdna_length": 6853,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.678_707delGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA",
"hgvs_p": "p.Gln227_Gln236del",
"transcript": "ENST00000637806.1",
"protein_id": "ENSP00000490551.1",
"transcript_support_level": 5,
"aa_start": 226,
"aa_end": null,
"aa_length": 279,
"cds_start": 678,
"cds_end": null,
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"cdna_start": 928,
"cdna_end": null,
"cdna_length": 7061,
"mane_select": null,
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"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "n.576_605delGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA",
"hgvs_p": null,
"transcript": "ENST00000491574.2",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"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": 4,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "n.678_707delGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA",
"hgvs_p": null,
"transcript": "ENST00000634760.1",
"protein_id": "ENSP00000489256.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"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": 4,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "n.*360_*389delGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA",
"hgvs_p": null,
"transcript": "ENST00000704354.1",
"protein_id": "ENSP00000515865.1",
"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": 5588,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.*293_*322delGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA",
"hgvs_p": null,
"transcript": "ENST00000704351.1",
"protein_id": "ENSP00000515862.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 160,
"cds_start": -4,
"cds_end": null,
"cds_length": 483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4650,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "n.*360_*389delGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA",
"hgvs_p": null,
"transcript": "ENST00000704354.1",
"protein_id": "ENSP00000515865.1",
"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": 5588,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.*21_*50delCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG",
"hgvs_p": null,
"transcript": "ENST00000439732.6",
"protein_id": "ENSP00000409398.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 214,
"cds_start": -4,
"cds_end": null,
"cds_length": 646,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 755,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.*88_*117delCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG",
"hgvs_p": null,
"transcript": "ENST00000457226.2",
"protein_id": "ENSP00000415218.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 192,
"cds_start": -4,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 736,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.*202_*231delCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG",
"hgvs_p": null,
"transcript": "ENST00000634287.1",
"protein_id": "ENSP00000489142.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 61,
"cds_start": -4,
"cds_end": null,
"cds_length": 186,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 424,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"dbsnp": "rs113070757",
"frequency_reference_population": 0.000026572423,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.0000885313,
"gnomad_genomes_af": 0.0000265724,
"gnomad_exomes_ac": 128,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"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": 1.941,
"phylop100way_prediction": "Benign",
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP3,BP6_Moderate",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 3,
"pathogenic_score": 0,
"criteria": [
"BP3",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000349721.8",
"gene_symbol": "SMARCA2",
"hgnc_id": 11098,
"effects": [
"disruptive_inframe_deletion"
],
"inheritance_mode": "AD",
"hgvs_c": "c.678_707delGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA",
"hgvs_p": "p.Gln227_Gln236del"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}