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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: 22-29678297-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=29678297&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 29678297,
"ref": "G",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_000268.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "c.1548G>T",
"hgvs_p": "p.Arg516Arg",
"transcript": "NM_000268.4",
"protein_id": "NP_000259.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 595,
"cds_start": 1548,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000338641.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000268.4"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "c.1548G>T",
"hgvs_p": "p.Arg516Arg",
"transcript": "ENST00000338641.10",
"protein_id": "ENSP00000344666.5",
"transcript_support_level": 1,
"aa_start": 516,
"aa_end": null,
"aa_length": 595,
"cds_start": 1548,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000268.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000338641.10"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "c.1548G>T",
"hgvs_p": "p.Arg516Arg",
"transcript": "ENST00000397789.3",
"protein_id": "ENSP00000380891.3",
"transcript_support_level": 1,
"aa_start": 516,
"aa_end": null,
"aa_length": 590,
"cds_start": 1548,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397789.3"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "c.1548G>T",
"hgvs_p": "p.Arg516Arg",
"transcript": "ENST00000403999.7",
"protein_id": "ENSP00000384797.3",
"transcript_support_level": 1,
"aa_start": 516,
"aa_end": null,
"aa_length": 590,
"cds_start": 1548,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000403999.7"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "c.1413G>T",
"hgvs_p": "p.Arg471Arg",
"transcript": "ENST00000361166.10",
"protein_id": "ENSP00000354529.6",
"transcript_support_level": 1,
"aa_start": 471,
"aa_end": null,
"aa_length": 550,
"cds_start": 1413,
"cds_end": null,
"cds_length": 1653,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361166.10"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "c.1425G>T",
"hgvs_p": "p.Arg475Arg",
"transcript": "ENST00000361452.8",
"protein_id": "ENSP00000354897.4",
"transcript_support_level": 1,
"aa_start": 475,
"aa_end": null,
"aa_length": 549,
"cds_start": 1425,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361452.8"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "c.1422G>T",
"hgvs_p": "p.Arg474Arg",
"transcript": "ENST00000361676.8",
"protein_id": "ENSP00000355183.4",
"transcript_support_level": 1,
"aa_start": 474,
"aa_end": null,
"aa_length": 548,
"cds_start": 1422,
"cds_end": null,
"cds_length": 1647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361676.8"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "c.1299G>T",
"hgvs_p": "p.Arg433Arg",
"transcript": "ENST00000334961.11",
"protein_id": "ENSP00000335652.7",
"transcript_support_level": 1,
"aa_start": 433,
"aa_end": null,
"aa_length": 507,
"cds_start": 1299,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000334961.11"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "c.1299G>T",
"hgvs_p": "p.Arg433Arg",
"transcript": "ENST00000353887.8",
"protein_id": "ENSP00000340626.4",
"transcript_support_level": 1,
"aa_start": 433,
"aa_end": null,
"aa_length": 507,
"cds_start": 1299,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000353887.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "c.448-16455G>T",
"hgvs_p": null,
"transcript": "ENST00000413209.6",
"protein_id": "ENSP00000409921.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 165,
"cds_start": null,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000413209.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "n.*67G>T",
"hgvs_p": null,
"transcript": "ENST00000432151.5",
"protein_id": "ENSP00000395885.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000432151.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "n.*67G>T",
"hgvs_p": null,
"transcript": "ENST00000432151.5",
"protein_id": "ENSP00000395885.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000432151.5"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "c.1584G>T",
"hgvs_p": "p.Arg528Arg",
"transcript": "ENST00000958075.1",
"protein_id": "ENSP00000628134.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 607,
"cds_start": 1584,
"cds_end": null,
"cds_length": 1824,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958075.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "c.1548G>T",
"hgvs_p": "p.Arg516Arg",
"transcript": "NM_001407066.1",
"protein_id": "NP_001393995.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 590,
"cds_start": 1548,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407066.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "c.1548G>T",
"hgvs_p": "p.Arg516Arg",
"transcript": "NM_016418.5",
"protein_id": "NP_057502.2",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 590,
"cds_start": 1548,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016418.5"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "c.1548G>T",
"hgvs_p": "p.Arg516Arg",
"transcript": "NM_181825.3",
"protein_id": "NP_861546.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 590,
"cds_start": 1548,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_181825.3"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "c.1548G>T",
"hgvs_p": "p.Arg516Arg",
"transcript": "NM_181832.3",
"protein_id": "NP_861970.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 590,
"cds_start": 1548,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_181832.3"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "c.1548G>T",
"hgvs_p": "p.Arg516Arg",
"transcript": "ENST00000672896.1",
"protein_id": "ENSP00000500117.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 590,
"cds_start": 1548,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000672896.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "c.1461G>T",
"hgvs_p": "p.Arg487Arg",
"transcript": "ENST00000403435.5",
"protein_id": "ENSP00000384029.1",
"transcript_support_level": 5,
"aa_start": 487,
"aa_end": null,
"aa_length": 561,
"cds_start": 1461,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000403435.5"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "c.1434G>T",
"hgvs_p": "p.Arg478Arg",
"transcript": "NM_001407053.1",
"protein_id": "NP_001393982.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 557,
"cds_start": 1434,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407053.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "c.1425G>T",
"hgvs_p": "p.Arg475Arg",
"transcript": "NM_001407054.1",
"protein_id": "NP_001393983.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 554,
"cds_start": 1425,
"cds_end": null,
"cds_length": 1665,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407054.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "c.1425G>T",
"hgvs_p": "p.Arg475Arg",
"transcript": "ENST00000906700.1",
"protein_id": "ENSP00000576759.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 554,
"cds_start": 1425,
"cds_end": null,
"cds_length": 1665,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906700.1"
},
{
"aa_ref": "R",
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{
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],
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"gene_symbol": "NF2",
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{
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"non_coding_transcript_exon_variant"
],
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"transcript": "NR_176267.1",
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"biotype": "pseudogene",
"feature": "NR_176267.1"
},
{
"aa_ref": null,
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"protein_coding": false,
"strand": true,
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"3_prime_UTR_variant"
],
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"gene_symbol": "NF2",
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{
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"gene_symbol": "NF2",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000673312.2"
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],
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"dbsnp": "rs534398531",
"frequency_reference_population": 0.0000018587107,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 6.84135e-7,
"gnomad_genomes_af": 0.0000131301,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.4399999976158142,
"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": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.127,
"phylop100way_prediction": "Benign",
"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": -9,
"acmg_classification": "Benign",
"acmg_criteria": "PM2,BP4_Moderate,BP6_Very_Strong,BP7",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 11,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Very_Strong",
"BP7"
],
"verdict": "Benign",
"transcript": "NM_000268.4",
"gene_symbol": "NF2",
"hgnc_id": 7773,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.1548G>T",
"hgvs_p": "p.Arg516Arg"
}
],
"clinvar_disease": " type 2,Hereditary cancer-predisposing syndrome,Neurofibromatosis",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3",
"phenotype_combined": "Neurofibromatosis, type 2|Hereditary cancer-predisposing syndrome",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}