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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: 11-64805130-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=64805130&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 64805130,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000450708.7",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1254C>G",
"hgvs_p": "p.Asp418Glu",
"transcript": "NM_001370259.2",
"protein_id": "NP_001357188.2",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 610,
"cds_start": 1254,
"cds_end": null,
"cds_length": 1833,
"cdna_start": 1315,
"cdna_end": null,
"cdna_length": 2712,
"mane_select": "ENST00000450708.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1254C>G",
"hgvs_p": "p.Asp418Glu",
"transcript": "ENST00000450708.7",
"protein_id": "ENSP00000394933.3",
"transcript_support_level": 5,
"aa_start": 418,
"aa_end": null,
"aa_length": 610,
"cds_start": 1254,
"cds_end": null,
"cds_length": 1833,
"cdna_start": 1315,
"cdna_end": null,
"cdna_length": 2712,
"mane_select": "NM_001370259.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1254C>G",
"hgvs_p": "p.Asp418Glu",
"transcript": "ENST00000312049.11",
"protein_id": "ENSP00000308975.6",
"transcript_support_level": 1,
"aa_start": 418,
"aa_end": null,
"aa_length": 610,
"cds_start": 1254,
"cds_end": null,
"cds_length": 1833,
"cdna_start": 1334,
"cdna_end": null,
"cdna_length": 2731,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1254C>G",
"hgvs_p": "p.Asp418Glu",
"transcript": "ENST00000424912.2",
"protein_id": "ENSP00000388016.2",
"transcript_support_level": 1,
"aa_start": 418,
"aa_end": null,
"aa_length": 610,
"cds_start": 1254,
"cds_end": null,
"cds_length": 1833,
"cdna_start": 1630,
"cdna_end": null,
"cdna_length": 3027,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1254C>G",
"hgvs_p": "p.Asp418Glu",
"transcript": "ENST00000429702.6",
"protein_id": "ENSP00000402752.2",
"transcript_support_level": 1,
"aa_start": 418,
"aa_end": null,
"aa_length": 610,
"cds_start": 1254,
"cds_end": null,
"cds_length": 1833,
"cdna_start": 1758,
"cdna_end": null,
"cdna_length": 3155,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1149C>G",
"hgvs_p": "p.Asp383Glu",
"transcript": "ENST00000377321.5",
"protein_id": "ENSP00000366538.1",
"transcript_support_level": 1,
"aa_start": 383,
"aa_end": null,
"aa_length": 575,
"cds_start": 1149,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 1217,
"cdna_end": null,
"cdna_length": 2614,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1395C>G",
"hgvs_p": "p.Asp465Glu",
"transcript": "NM_001407150.1",
"protein_id": "NP_001394079.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 657,
"cds_start": 1395,
"cds_end": null,
"cds_length": 1974,
"cdna_start": 1702,
"cdna_end": null,
"cdna_length": 3099,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1380C>G",
"hgvs_p": "p.Asp460Glu",
"transcript": "NM_001370251.2",
"protein_id": "NP_001357180.2",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 652,
"cds_start": 1380,
"cds_end": null,
"cds_length": 1959,
"cdna_start": 1429,
"cdna_end": null,
"cdna_length": 2826,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1380C>G",
"hgvs_p": "p.Asp460Glu",
"transcript": "NM_001407142.1",
"protein_id": "NP_001394071.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 652,
"cds_start": 1380,
"cds_end": null,
"cds_length": 1959,
"cdna_start": 1441,
"cdna_end": null,
"cdna_length": 2838,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1380C>G",
"hgvs_p": "p.Asp460Glu",
"transcript": "NM_001407143.1",
"protein_id": "NP_001394072.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 652,
"cds_start": 1380,
"cds_end": null,
"cds_length": 1959,
"cdna_start": 1687,
"cdna_end": null,
"cdna_length": 3084,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1380C>G",
"hgvs_p": "p.Asp460Glu",
"transcript": "NM_001407144.1",
"protein_id": "NP_001394073.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 652,
"cds_start": 1380,
"cds_end": null,
"cds_length": 1959,
"cdna_start": 1460,
"cdna_end": null,
"cdna_length": 2857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1380C>G",
"hgvs_p": "p.Asp460Glu",
"transcript": "ENST00000672304.1",
"protein_id": "ENSP00000500585.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 652,
"cds_start": 1380,
"cds_end": null,
"cds_length": 1959,
"cdna_start": 1429,
"cdna_end": null,
"cdna_length": 2800,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1275C>G",
"hgvs_p": "p.Asp425Glu",
"transcript": "NM_001407151.1",
"protein_id": "NP_001394080.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 617,
"cds_start": 1275,
"cds_end": null,
"cds_length": 1854,
"cdna_start": 1324,
"cdna_end": null,
"cdna_length": 2721,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1269C>G",
"hgvs_p": "p.Asp423Glu",
"transcript": "NM_000244.4",
"protein_id": "NP_000235.3",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 615,
"cds_start": 1269,
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"cdna_start": 1349,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1269C>G",
"hgvs_p": "p.Asp423Glu",
"transcript": "NM_001407145.1",
"protein_id": "NP_001394074.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 615,
"cds_start": 1269,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 1386,
"cdna_end": null,
"cdna_length": 2783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1269C>G",
"hgvs_p": "p.Asp423Glu",
"transcript": "NM_130800.3",
"protein_id": "NP_570712.2",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
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"cds_start": 1269,
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"cdna_start": 1330,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1269C>G",
"hgvs_p": "p.Asp423Glu",
"transcript": "NM_130801.3",
"protein_id": "NP_570713.2",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 615,
"cds_start": 1269,
"cds_end": null,
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"cdna_start": 1318,
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"cdna_length": 2715,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1269C>G",
"hgvs_p": "p.Asp423Glu",
"transcript": "NM_130802.3",
"protein_id": "NP_570714.2",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 615,
"cds_start": 1269,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 1576,
"cdna_end": null,
"cdna_length": 2973,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1269C>G",
"hgvs_p": "p.Asp423Glu",
"transcript": "NM_130803.3",
"protein_id": "NP_570715.2",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 615,
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},
{
"aa_ref": "D",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1269C>G",
"hgvs_p": "p.Asp423Glu",
"transcript": "NM_130804.3",
"protein_id": "NP_570716.2",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1269C>G",
"hgvs_p": "p.Asp423Glu",
"transcript": "ENST00000377313.7",
"protein_id": "ENSP00000366530.1",
"transcript_support_level": 2,
"aa_start": 423,
"aa_end": null,
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"cds_start": 1269,
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"cdna_start": 1576,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1269C>G",
"hgvs_p": "p.Asp423Glu",
"transcript": "ENST00000710881.1",
"protein_id": "ENSP00000518530.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 615,
"cds_start": 1269,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 1349,
"cdna_end": null,
"cdna_length": 2746,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1254C>G",
"hgvs_p": "p.Asp418Glu",
"transcript": "NM_001370260.2",
"protein_id": "NP_001357189.2",
"transcript_support_level": null,
"aa_start": 418,
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},
{
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],
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},
{
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"consequences": [
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},
{
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},
{
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"consequences": [
"intron_variant"
],
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"gene_symbol": "MEN1",
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"transcript": "NM_001407152.1",
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},
{
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"intron_variant"
],
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"gene_symbol": "MEN1",
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"hgvs_c": "c.1186-314C>G",
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"transcript": "ENST00000377316.6",
"protein_id": "ENSP00000366533.1",
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}
],
"gene_symbol": "MEN1",
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"dbsnp": "rs2071313",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9305968284606934,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.741,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9992,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.34,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 0.006,
"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": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 9,
"benign_score": 0,
"pathogenic_score": 9,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP2",
"PP3_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000450708.7",
"gene_symbol": "MEN1",
"hgnc_id": 7010,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1254C>G",
"hgvs_p": "p.Asp418Glu"
}
],
"clinvar_disease": " type 1,Multiple endocrine neoplasia",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Multiple endocrine neoplasia, type 1",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}