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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: 11-64804481-CT-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=64804481&ref=CT&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 64804481,
"ref": "CT",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "ENST00000450708.7",
"consequences": [
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1685delA",
"hgvs_p": "p.Lys562fs",
"transcript": "NM_001370259.2",
"protein_id": "NP_001357188.2",
"transcript_support_level": null,
"aa_start": 562,
"aa_end": null,
"aa_length": 610,
"cds_start": 1685,
"cds_end": null,
"cds_length": 1833,
"cdna_start": 1746,
"cdna_end": null,
"cdna_length": 2712,
"mane_select": "ENST00000450708.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1685delA",
"hgvs_p": "p.Lys562fs",
"transcript": "ENST00000450708.7",
"protein_id": "ENSP00000394933.3",
"transcript_support_level": 5,
"aa_start": 562,
"aa_end": null,
"aa_length": 610,
"cds_start": 1685,
"cds_end": null,
"cds_length": 1833,
"cdna_start": 1746,
"cdna_end": null,
"cdna_length": 2712,
"mane_select": "NM_001370259.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1685delA",
"hgvs_p": "p.Lys562fs",
"transcript": "ENST00000312049.11",
"protein_id": "ENSP00000308975.6",
"transcript_support_level": 1,
"aa_start": 562,
"aa_end": null,
"aa_length": 610,
"cds_start": 1685,
"cds_end": null,
"cds_length": 1833,
"cdna_start": 1765,
"cdna_end": null,
"cdna_length": 2731,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1685delA",
"hgvs_p": "p.Lys562fs",
"transcript": "ENST00000424912.2",
"protein_id": "ENSP00000388016.2",
"transcript_support_level": 1,
"aa_start": 562,
"aa_end": null,
"aa_length": 610,
"cds_start": 1685,
"cds_end": null,
"cds_length": 1833,
"cdna_start": 2061,
"cdna_end": null,
"cdna_length": 3027,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1685delA",
"hgvs_p": "p.Lys562fs",
"transcript": "ENST00000429702.6",
"protein_id": "ENSP00000402752.2",
"transcript_support_level": 1,
"aa_start": 562,
"aa_end": null,
"aa_length": 610,
"cds_start": 1685,
"cds_end": null,
"cds_length": 1833,
"cdna_start": 2189,
"cdna_end": null,
"cdna_length": 3155,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1580delA",
"hgvs_p": "p.Lys527fs",
"transcript": "ENST00000377321.5",
"protein_id": "ENSP00000366538.1",
"transcript_support_level": 1,
"aa_start": 527,
"aa_end": null,
"aa_length": 575,
"cds_start": 1580,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 1648,
"cdna_end": null,
"cdna_length": 2614,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1826delA",
"hgvs_p": "p.Lys609fs",
"transcript": "NM_001407150.1",
"protein_id": "NP_001394079.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 657,
"cds_start": 1826,
"cds_end": null,
"cds_length": 1974,
"cdna_start": 2133,
"cdna_end": null,
"cdna_length": 3099,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1811delA",
"hgvs_p": "p.Lys604fs",
"transcript": "NM_001370251.2",
"protein_id": "NP_001357180.2",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 652,
"cds_start": 1811,
"cds_end": null,
"cds_length": 1959,
"cdna_start": 1860,
"cdna_end": null,
"cdna_length": 2826,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1811delA",
"hgvs_p": "p.Lys604fs",
"transcript": "NM_001407142.1",
"protein_id": "NP_001394071.1",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 652,
"cds_start": 1811,
"cds_end": null,
"cds_length": 1959,
"cdna_start": 1872,
"cdna_end": null,
"cdna_length": 2838,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1811delA",
"hgvs_p": "p.Lys604fs",
"transcript": "NM_001407143.1",
"protein_id": "NP_001394072.1",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 652,
"cds_start": 1811,
"cds_end": null,
"cds_length": 1959,
"cdna_start": 2118,
"cdna_end": null,
"cdna_length": 3084,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1811delA",
"hgvs_p": "p.Lys604fs",
"transcript": "NM_001407144.1",
"protein_id": "NP_001394073.1",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 652,
"cds_start": 1811,
"cds_end": null,
"cds_length": 1959,
"cdna_start": 1891,
"cdna_end": null,
"cdna_length": 2857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1811delA",
"hgvs_p": "p.Lys604fs",
"transcript": "ENST00000672304.1",
"protein_id": "ENSP00000500585.1",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 652,
"cds_start": 1811,
"cds_end": null,
"cds_length": 1959,
"cdna_start": 1860,
"cdna_end": null,
"cdna_length": 2800,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1706delA",
"hgvs_p": "p.Lys569fs",
"transcript": "NM_001407151.1",
"protein_id": "NP_001394080.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 617,
"cds_start": 1706,
"cds_end": null,
"cds_length": 1854,
"cdna_start": 1755,
"cdna_end": null,
"cdna_length": 2721,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1700delA",
"hgvs_p": "p.Lys567fs",
"transcript": "NM_000244.4",
"protein_id": "NP_000235.3",
"transcript_support_level": null,
"aa_start": 567,
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"cds_start": 1700,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1700delA",
"hgvs_p": "p.Lys567fs",
"transcript": "NM_001407145.1",
"protein_id": "NP_001394074.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 615,
"cds_start": 1700,
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"cdna_start": 1817,
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"cdna_length": 2783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1700delA",
"hgvs_p": "p.Lys567fs",
"transcript": "NM_130800.3",
"protein_id": "NP_570712.2",
"transcript_support_level": null,
"aa_start": 567,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1700delA",
"hgvs_p": "p.Lys567fs",
"transcript": "NM_130801.3",
"protein_id": "NP_570713.2",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 615,
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"cdna_start": 1749,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1700delA",
"hgvs_p": "p.Lys567fs",
"transcript": "NM_130802.3",
"protein_id": "NP_570714.2",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 615,
"cds_start": 1700,
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"cdna_start": 2007,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1700delA",
"hgvs_p": "p.Lys567fs",
"transcript": "NM_130803.3",
"protein_id": "NP_570715.2",
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},
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"strand": false,
"consequences": [
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],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1700delA",
"hgvs_p": "p.Lys567fs",
"transcript": "NM_130804.3",
"protein_id": "NP_570716.2",
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"aa_end": null,
"aa_length": 615,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
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"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1700delA",
"hgvs_p": "p.Lys567fs",
"transcript": "ENST00000377313.7",
"protein_id": "ENSP00000366530.1",
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"cds_start": 1700,
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"cdna_start": 2007,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1700delA",
"hgvs_p": "p.Lys567fs",
"transcript": "ENST00000710881.1",
"protein_id": "ENSP00000518530.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 615,
"cds_start": 1700,
"cds_end": null,
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"cdna_start": 1780,
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"cdna_length": 2746,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1685delA",
"hgvs_p": "p.Lys562fs",
"transcript": "NM_001370260.2",
"protein_id": "NP_001357189.2",
"transcript_support_level": null,
"aa_start": 562,
"aa_end": null,
"aa_length": 610,
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},
{
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},
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},
{
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},
{
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
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}
],
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"dbsnp": "rs398124436",
"frequency_reference_population": 6.8406473e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84065e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 5.034,
"phylop100way_prediction": "Uncertain_significance",
"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,
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"acmg_score": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PVS1_Strong,PM2",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PVS1_Strong",
"PM2"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000450708.7",
"gene_symbol": "MEN1",
"hgnc_id": 7010,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1685delA",
"hgvs_p": "p.Lys562fs"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}