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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: 22-29674859-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=29674859&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 29674859,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_000268.4",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1364A>G",
"hgvs_p": "p.Lys455Arg",
"transcript": "NM_000268.4",
"protein_id": "NP_000259.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 595,
"cds_start": 1364,
"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": "K",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1364A>G",
"hgvs_p": "p.Lys455Arg",
"transcript": "ENST00000338641.10",
"protein_id": "ENSP00000344666.5",
"transcript_support_level": 1,
"aa_start": 455,
"aa_end": null,
"aa_length": 595,
"cds_start": 1364,
"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": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "c.1364A>G",
"hgvs_p": "p.Lys455Arg",
"transcript": "ENST00000397789.3",
"protein_id": "ENSP00000380891.3",
"transcript_support_level": 1,
"aa_start": 455,
"aa_end": null,
"aa_length": 590,
"cds_start": 1364,
"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": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1364A>G",
"hgvs_p": "p.Lys455Arg",
"transcript": "ENST00000403999.7",
"protein_id": "ENSP00000384797.3",
"transcript_support_level": 1,
"aa_start": 455,
"aa_end": null,
"aa_length": 590,
"cds_start": 1364,
"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": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1229A>G",
"hgvs_p": "p.Lys410Arg",
"transcript": "ENST00000361166.10",
"protein_id": "ENSP00000354529.6",
"transcript_support_level": 1,
"aa_start": 410,
"aa_end": null,
"aa_length": 550,
"cds_start": 1229,
"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": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "c.1241A>G",
"hgvs_p": "p.Lys414Arg",
"transcript": "ENST00000361452.8",
"protein_id": "ENSP00000354897.4",
"transcript_support_level": 1,
"aa_start": 414,
"aa_end": null,
"aa_length": 549,
"cds_start": 1241,
"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": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "c.1238A>G",
"hgvs_p": "p.Lys413Arg",
"transcript": "ENST00000361676.8",
"protein_id": "ENSP00000355183.4",
"transcript_support_level": 1,
"aa_start": 413,
"aa_end": null,
"aa_length": 548,
"cds_start": 1238,
"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": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "c.1115A>G",
"hgvs_p": "p.Lys372Arg",
"transcript": "ENST00000334961.11",
"protein_id": "ENSP00000335652.7",
"transcript_support_level": 1,
"aa_start": 372,
"aa_end": null,
"aa_length": 507,
"cds_start": 1115,
"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": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "c.1115A>G",
"hgvs_p": "p.Lys372Arg",
"transcript": "ENST00000353887.8",
"protein_id": "ENSP00000340626.4",
"transcript_support_level": 1,
"aa_start": 372,
"aa_end": null,
"aa_length": 507,
"cds_start": 1115,
"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.448-19893A>G",
"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": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "n.546A>G",
"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": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1400A>G",
"hgvs_p": "p.Lys467Arg",
"transcript": "ENST00000958075.1",
"protein_id": "ENSP00000628134.1",
"transcript_support_level": null,
"aa_start": 467,
"aa_end": null,
"aa_length": 607,
"cds_start": 1400,
"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": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "c.1364A>G",
"hgvs_p": "p.Lys455Arg",
"transcript": "NM_001407066.1",
"protein_id": "NP_001393995.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 590,
"cds_start": 1364,
"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": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "c.1364A>G",
"hgvs_p": "p.Lys455Arg",
"transcript": "NM_016418.5",
"protein_id": "NP_057502.2",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 590,
"cds_start": 1364,
"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": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1364A>G",
"hgvs_p": "p.Lys455Arg",
"transcript": "NM_181825.3",
"protein_id": "NP_861546.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 590,
"cds_start": 1364,
"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": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "c.1364A>G",
"hgvs_p": "p.Lys455Arg",
"transcript": "NM_181832.3",
"protein_id": "NP_861970.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 590,
"cds_start": 1364,
"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": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "c.1364A>G",
"hgvs_p": "p.Lys455Arg",
"transcript": "ENST00000672896.1",
"protein_id": "ENSP00000500117.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 590,
"cds_start": 1364,
"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": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "c.1277A>G",
"hgvs_p": "p.Lys426Arg",
"transcript": "ENST00000403435.5",
"protein_id": "ENSP00000384029.1",
"transcript_support_level": 5,
"aa_start": 426,
"aa_end": null,
"aa_length": 561,
"cds_start": 1277,
"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": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1250A>G",
"hgvs_p": "p.Lys417Arg",
"transcript": "NM_001407053.1",
"protein_id": "NP_001393982.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 557,
"cds_start": 1250,
"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": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1241A>G",
"hgvs_p": "p.Lys414Arg",
"transcript": "NM_001407054.1",
"protein_id": "NP_001393983.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 554,
"cds_start": 1241,
"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": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1241A>G",
"hgvs_p": "p.Lys414Arg",
"transcript": "ENST00000906700.1",
"protein_id": "ENSP00000576759.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 554,
"cds_start": 1241,
"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": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1238A>G",
"hgvs_p": "p.Lys413Arg",
"transcript": "NM_001407055.1",
"protein_id": "NP_001393984.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 553,
"cds_start": 1238,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407055.1"
},
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"canonical": false,
"protein_coding": false,
"strand": true,
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],
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"exon_count": 17,
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"transcript": "ENST00000673312.2",
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000673312.2"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
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"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
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"exon_count": 8,
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"gene_symbol": "NF2",
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"hgvs_c": "n.912A>G",
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"transcript": "NR_176267.1",
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_176267.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
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"exon_count": 17,
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"gene_symbol": "NF2",
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"hgvs_c": "n.*1246A>G",
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"transcript": "ENST00000672805.1",
"protein_id": "ENSP00000500295.1",
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"aa_end": null,
"aa_length": null,
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"cds_end": null,
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"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000672805.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
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"exon_count": 17,
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"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "n.*858A>G",
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"transcript": "ENST00000673312.2",
"protein_id": "ENSP00000500186.2",
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"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": "ENST00000673312.2"
}
],
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"dbsnp": "rs1318882444",
"frequency_reference_population": 0.0000063767466,
"hom_count_reference_population": 0,
"allele_count_reference_population": 9,
"gnomad_exomes_af": 0.00000637675,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 9,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3550855219364166,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.368,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1169,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.09,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 9.318,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BS1_Supporting,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BS1_Supporting",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_000268.4",
"gene_symbol": "NF2",
"hgnc_id": 7773,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.1364A>G",
"hgvs_p": "p.Lys455Arg"
}
],
"clinvar_disease": " type 2,Hereditary cancer-predisposing syndrome,Neurofibromatosis",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Neurofibromatosis, type 2|Hereditary cancer-predisposing syndrome",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}