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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: 15-99712504-C-CCAGCAGCAGCAGCAG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=99712504&ref=C&alt=CCAGCAGCAGCAGCAG&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 99712504,
"ref": "C",
"alt": "CCAGCAGCAGCAGCAG",
"effect": "disruptive_inframe_insertion",
"transcript": "ENST00000557942.6",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "QQQQQP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1271_1285dupAGCAGCAGCAGCAGC",
"hgvs_p": "p.Gln424_Gln428dup",
"transcript": "NM_001319206.4",
"protein_id": "NP_001306135.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 505,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1631,
"cdna_end": null,
"cdna_length": 5580,
"mane_select": "ENST00000557942.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "QQQQQP",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1271_1285dupAGCAGCAGCAGCAGC",
"hgvs_p": "p.Gln424_Gln428dup",
"transcript": "ENST00000557942.6",
"protein_id": "ENSP00000453095.1",
"transcript_support_level": 5,
"aa_start": 429,
"aa_end": null,
"aa_length": 505,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1631,
"cdna_end": null,
"cdna_length": 5580,
"mane_select": "NM_001319206.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "QQQQQP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1253_1267dupAGCAGCAGCAGCAGC",
"hgvs_p": "p.Gln418_Gln422dup",
"transcript": "ENST00000354410.9",
"protein_id": "ENSP00000346389.5",
"transcript_support_level": 1,
"aa_start": 423,
"aa_end": null,
"aa_length": 499,
"cds_start": 1268,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 1897,
"cdna_end": null,
"cdna_length": 5824,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "QQQQQP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1385_1399dupAGCAGCAGCAGCAGC",
"hgvs_p": "p.Gln462_Gln466dup",
"transcript": "NM_001400028.1",
"protein_id": "NP_001386957.1",
"transcript_support_level": null,
"aa_start": 467,
"aa_end": null,
"aa_length": 543,
"cds_start": 1400,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 1745,
"cdna_end": null,
"cdna_length": 5694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "QQQQQP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1289_1303dupAGCAGCAGCAGCAGC",
"hgvs_p": "p.Gln430_Gln434dup",
"transcript": "NM_001365201.3",
"protein_id": "NP_001352130.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 511,
"cds_start": 1304,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1649,
"cdna_end": null,
"cdna_length": 5598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "QQQQQP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1289_1303dupAGCAGCAGCAGCAGC",
"hgvs_p": "p.Gln430_Gln434dup",
"transcript": "NM_001365202.3",
"protein_id": "NP_001352131.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 511,
"cds_start": 1304,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1567,
"cdna_end": null,
"cdna_length": 5516,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "QQQQQP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1289_1303dupAGCAGCAGCAGCAGC",
"hgvs_p": "p.Gln430_Gln434dup",
"transcript": "ENST00000338042.11",
"protein_id": "ENSP00000337202.8",
"transcript_support_level": 2,
"aa_start": 435,
"aa_end": null,
"aa_length": 511,
"cds_start": 1304,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1649,
"cdna_end": null,
"cdna_length": 5598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "QQQQQP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1289_1303dupAGCAGCAGCAGCAGC",
"hgvs_p": "p.Gln430_Gln434dup",
"transcript": "ENST00000690055.1",
"protein_id": "ENSP00000509700.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 511,
"cds_start": 1304,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1538,
"cdna_end": null,
"cdna_length": 3011,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "QQQQQP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1289_1303dupAGCAGCAGCAGCAGC",
"hgvs_p": "p.Gln430_Gln434dup",
"transcript": "ENST00000705985.1",
"protein_id": "ENSP00000516195.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 511,
"cds_start": 1304,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1649,
"cdna_end": null,
"cdna_length": 5598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "QQQQQP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1277_1291dupAGCAGCAGCAGCAGC",
"hgvs_p": "p.Gln426_Gln430dup",
"transcript": "NM_001365203.3",
"protein_id": "NP_001352132.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 507,
"cds_start": 1292,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 1637,
"cdna_end": null,
"cdna_length": 5586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "QQQQQP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1277_1291dupAGCAGCAGCAGCAGC",
"hgvs_p": "p.Gln426_Gln430dup",
"transcript": "NM_001365204.3",
"protein_id": "NP_001352133.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 507,
"cds_start": 1292,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 1555,
"cdna_end": null,
"cdna_length": 5504,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "QQQQQP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1277_1291dupAGCAGCAGCAGCAGC",
"hgvs_p": "p.Gln426_Gln430dup",
"transcript": "NM_001400029.1",
"protein_id": "NP_001386958.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 507,
"cds_start": 1292,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 1633,
"cdna_end": null,
"cdna_length": 5582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "QQQQQP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1277_1291dupAGCAGCAGCAGCAGC",
"hgvs_p": "p.Gln426_Gln430dup",
"transcript": "NM_001400030.1",
"protein_id": "NP_001386959.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 507,
"cds_start": 1292,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 1590,
"cdna_end": null,
"cdna_length": 5539,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "QQQQQP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1277_1291dupAGCAGCAGCAGCAGC",
"hgvs_p": "p.Gln426_Gln430dup",
"transcript": "ENST00000686611.1",
"protein_id": "ENSP00000509137.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 507,
"cds_start": 1292,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 1594,
"cdna_end": null,
"cdna_length": 3192,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "QQQQQP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1271_1285dupAGCAGCAGCAGCAGC",
"hgvs_p": "p.Gln424_Gln428dup",
"transcript": "NM_001352616.4",
"protein_id": "NP_001339545.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 505,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1545,
"cdna_end": null,
"cdna_length": 5494,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "QQQQQP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1271_1285dupAGCAGCAGCAGCAGC",
"hgvs_p": "p.Gln424_Gln428dup",
"transcript": "NM_001365205.3",
"protein_id": "NP_001352134.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 505,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1549,
"cdna_end": null,
"cdna_length": 5498,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "QQQQQP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1271_1285dupAGCAGCAGCAGCAGC",
"hgvs_p": "p.Gln424_Gln428dup",
"transcript": "NM_001400031.1",
"protein_id": "NP_001386960.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 505,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1670,
"cdna_end": null,
"cdna_length": 5619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "QQQQQP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1271_1285dupAGCAGCAGCAGCAGC",
"hgvs_p": "p.Gln424_Gln428dup",
"transcript": "NM_001400032.1",
"protein_id": "NP_001386961.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 505,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1800,
"cdna_end": null,
"cdna_length": 5749,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "QQQQQP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1271_1285dupAGCAGCAGCAGCAGC",
"hgvs_p": "p.Gln424_Gln428dup",
"transcript": "NM_001400033.1",
"protein_id": "NP_001386962.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 505,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1654,
"cdna_end": null,
"cdna_length": 5603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "QQQQQP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1271_1285dupAGCAGCAGCAGCAGC",
"hgvs_p": "p.Gln424_Gln428dup",
"transcript": "NM_001400034.1",
"protein_id": "NP_001386963.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 505,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1627,
"cdna_end": null,
"cdna_length": 5576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "QQQQQP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEF2A",
"gene_hgnc_id": 6993,
"hgvs_c": "c.1271_1285dupAGCAGCAGCAGCAGC",
"hgvs_p": "p.Gln424_Gln428dup",
"transcript": "NM_001400035.1",
"protein_id": "NP_001386964.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 505,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1736,
"cdna_end": null,
"cdna_length": 5685,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "QQQQQP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 11,
"exon_rank_end": null,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
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],
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"exon_count": 4,
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"gene_symbol": "MEF2A",
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}
],
"gene_symbol": "MEF2A",
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"dbsnp": "rs3138597",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 142,
"gnomad_exomes_af": 0.0000644402,
"gnomad_genomes_af": 0.000352389,
"gnomad_exomes_ac": 89,
"gnomad_genomes_ac": 53,
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"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": 6.547,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP3,BS2_Supporting",
"acmg_by_gene": [
{
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"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP3",
"BS2_Supporting"
],
"verdict": "Likely_benign",
"transcript": "ENST00000557942.6",
"gene_symbol": "MEF2A",
"hgnc_id": 6993,
"effects": [
"disruptive_inframe_insertion"
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"inheritance_mode": "AD",
"hgvs_c": "c.1271_1285dupAGCAGCAGCAGCAGC",
"hgvs_p": "p.Gln424_Gln428dup"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}