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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: 1-150077169-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=150077169&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 150077169,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000644510.2",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS45",
"gene_hgnc_id": 14579,
"hgvs_c": "c.514T>C",
"hgvs_p": "p.Cys172Arg",
"transcript": "NM_007259.5",
"protein_id": "NP_009190.2",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 570,
"cds_start": 514,
"cds_end": null,
"cds_length": 1713,
"cdna_start": 596,
"cdna_end": null,
"cdna_length": 2328,
"mane_select": "ENST00000644510.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS45",
"gene_hgnc_id": 14579,
"hgvs_c": "c.514T>C",
"hgvs_p": "p.Cys172Arg",
"transcript": "ENST00000644510.2",
"protein_id": "ENSP00000495563.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 570,
"cds_start": 514,
"cds_end": null,
"cds_length": 1713,
"cdna_start": 596,
"cdna_end": null,
"cdna_length": 2328,
"mane_select": "NM_007259.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS45",
"gene_hgnc_id": 14579,
"hgvs_c": "c.514T>C",
"hgvs_p": "p.Cys172Arg",
"transcript": "ENST00000698584.1",
"protein_id": "ENSP00000513813.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 651,
"cds_start": 514,
"cds_end": null,
"cds_length": 1956,
"cdna_start": 636,
"cdna_end": null,
"cdna_length": 2449,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS45",
"gene_hgnc_id": 14579,
"hgvs_c": "c.514T>C",
"hgvs_p": "p.Cys172Arg",
"transcript": "ENST00000644526.2",
"protein_id": "ENSP00000494363.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 643,
"cds_start": 514,
"cds_end": null,
"cds_length": 1932,
"cdna_start": 636,
"cdna_end": null,
"cdna_length": 2462,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS45",
"gene_hgnc_id": 14579,
"hgvs_c": "c.514T>C",
"hgvs_p": "p.Cys172Arg",
"transcript": "ENST00000698580.1",
"protein_id": "ENSP00000513809.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 595,
"cds_start": 514,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 636,
"cdna_end": null,
"cdna_length": 2140,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS45",
"gene_hgnc_id": 14579,
"hgvs_c": "c.514T>C",
"hgvs_p": "p.Cys172Arg",
"transcript": "ENST00000698582.1",
"protein_id": "ENSP00000513811.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 582,
"cds_start": 514,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 636,
"cdna_end": null,
"cdna_length": 4196,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS45",
"gene_hgnc_id": 14579,
"hgvs_c": "c.550T>C",
"hgvs_p": "p.Cys184Arg",
"transcript": "ENST00000698587.1",
"protein_id": "ENSP00000513816.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 582,
"cds_start": 550,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 672,
"cdna_end": null,
"cdna_length": 2398,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS45",
"gene_hgnc_id": 14579,
"hgvs_c": "c.514T>C",
"hgvs_p": "p.Cys172Arg",
"transcript": "ENST00000698598.1",
"protein_id": "ENSP00000513825.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 582,
"cds_start": 514,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 568,
"cdna_end": null,
"cdna_length": 2336,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS45",
"gene_hgnc_id": 14579,
"hgvs_c": "c.511T>C",
"hgvs_p": "p.Cys171Arg",
"transcript": "ENST00000698590.1",
"protein_id": "ENSP00000513818.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 569,
"cds_start": 511,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 607,
"cdna_end": null,
"cdna_length": 2322,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS45",
"gene_hgnc_id": 14579,
"hgvs_c": "c.514T>C",
"hgvs_p": "p.Cys172Arg",
"transcript": "ENST00000698581.1",
"protein_id": "ENSP00000513810.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 548,
"cds_start": 514,
"cds_end": null,
"cds_length": 1647,
"cdna_start": 636,
"cdna_end": null,
"cdna_length": 2022,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS45",
"gene_hgnc_id": 14579,
"hgvs_c": "c.445T>C",
"hgvs_p": "p.Cys149Arg",
"transcript": "ENST00000698532.1",
"protein_id": "ENSP00000513778.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 547,
"cds_start": 445,
"cds_end": null,
"cds_length": 1644,
"cdna_start": 527,
"cdna_end": null,
"cdna_length": 2242,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS45",
"gene_hgnc_id": 14579,
"hgvs_c": "c.442T>C",
"hgvs_p": "p.Cys148Arg",
"transcript": "ENST00000419023.4",
"protein_id": "ENSP00000400143.3",
"transcript_support_level": 3,
"aa_start": 148,
"aa_end": null,
"aa_length": 546,
"cds_start": 442,
"cds_end": null,
"cds_length": 1641,
"cdna_start": 453,
"cdna_end": null,
"cdna_length": 2168,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS45",
"gene_hgnc_id": 14579,
"hgvs_c": "c.514T>C",
"hgvs_p": "p.Cys172Arg",
"transcript": "ENST00000698578.1",
"protein_id": "ENSP00000513807.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 542,
"cds_start": 514,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 636,
"cdna_end": null,
"cdna_length": 3093,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS45",
"gene_hgnc_id": 14579,
"hgvs_c": "c.406T>C",
"hgvs_p": "p.Cys136Arg",
"transcript": "NM_001279354.2",
"protein_id": "NP_001266283.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 534,
"cds_start": 406,
"cds_end": null,
"cds_length": 1605,
"cdna_start": 616,
"cdna_end": null,
"cdna_length": 2348,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS45",
"gene_hgnc_id": 14579,
"hgvs_c": "c.406T>C",
"hgvs_p": "p.Cys136Arg",
"transcript": "ENST00000643970.2",
"protein_id": "ENSP00000495148.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 534,
"cds_start": 406,
"cds_end": null,
"cds_length": 1605,
"cdna_start": 749,
"cdna_end": null,
"cdna_length": 2475,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS45",
"gene_hgnc_id": 14579,
"hgvs_c": "c.514T>C",
"hgvs_p": "p.Cys172Arg",
"transcript": "ENST00000698528.1",
"protein_id": "ENSP00000513777.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 534,
"cds_start": 514,
"cds_end": null,
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"cdna_start": 677,
"cdna_end": null,
"cdna_length": 2281,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS45",
"gene_hgnc_id": 14579,
"hgvs_c": "c.514T>C",
"hgvs_p": "p.Cys172Arg",
"transcript": "ENST00000698588.1",
"protein_id": "ENSP00000513817.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 533,
"cds_start": 514,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 621,
"cdna_end": null,
"cdna_length": 2222,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS45",
"gene_hgnc_id": 14579,
"hgvs_c": "c.379T>C",
"hgvs_p": "p.Cys127Arg",
"transcript": "ENST00000698533.1",
"protein_id": "ENSP00000513779.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 525,
"cds_start": 379,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 461,
"cdna_end": null,
"cdna_length": 2176,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS45",
"gene_hgnc_id": 14579,
"hgvs_c": "c.514T>C",
"hgvs_p": "p.Cys172Arg",
"transcript": "ENST00000698592.1",
"protein_id": "ENSP00000513820.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 525,
"cds_start": 514,
"cds_end": null,
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"cdna_start": 600,
"cdna_end": null,
"cdna_length": 2177,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS45",
"gene_hgnc_id": 14579,
"hgvs_c": "c.514T>C",
"hgvs_p": "p.Cys172Arg",
"transcript": "ENST00000698534.1",
"protein_id": "ENSP00000513780.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 514,
"cds_start": 514,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 596,
"cdna_end": null,
"cdna_length": 2160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS45",
"gene_hgnc_id": 14579,
"hgvs_c": "c.514T>C",
"hgvs_p": "p.Cys172Arg",
"transcript": "ENST00000644704.2",
"protein_id": "ENSP00000495981.2",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 372,
"cds_start": 514,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 636,
"cdna_end": null,
"cdna_length": 1650,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS45",
"gene_hgnc_id": 14579,
"hgvs_c": "c.406T>C",
"hgvs_p": "p.Cys136Arg",
"transcript": "XM_024452791.2",
"protein_id": "XP_024308559.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 534,
"cds_start": 406,
"cds_end": null,
"cds_length": 1605,
"cdna_start": 646,
"cdna_end": null,
"cdna_length": 2378,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS45",
"gene_hgnc_id": 14579,
"hgvs_c": "n.646T>C",
"hgvs_p": null,
"transcript": "ENST00000460366.6",
"protein_id": null,
"transcript_support_level": 2,
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"cdna_length": 2189,
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"mane_plus": null,
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"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 4,
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"gene_symbol": "VPS45",
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"hgvs_c": "c.370-500T>C",
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"transcript": "ENST00000698594.1",
"protein_id": "ENSP00000513822.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 501,
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"cds_length": 1506,
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"cdna_length": 2104,
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"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 4,
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"gene_symbol": "VPS45",
"gene_hgnc_id": 14579,
"hgvs_c": "n.370-500T>C",
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"transcript": "ENST00000491789.2",
"protein_id": "ENSP00000494741.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
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"cdna_length": 2245,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 14,
"intron_rank": 4,
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"gene_symbol": "VPS45",
"gene_hgnc_id": 14579,
"hgvs_c": "n.452-500T>C",
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"transcript": "NR_103998.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2352,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "VPS45",
"gene_hgnc_id": 14579,
"dbsnp": "rs191692092",
"frequency_reference_population": 0.00004150884,
"hom_count_reference_population": 0,
"allele_count_reference_population": 67,
"gnomad_exomes_af": 0.0000253107,
"gnomad_genomes_af": 0.000197003,
"gnomad_exomes_ac": 37,
"gnomad_genomes_ac": 30,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06075632572174072,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.377,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.7571,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.22,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.795,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.02,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000644510.2",
"gene_symbol": "VPS45",
"hgnc_id": 14579,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.514T>C",
"hgvs_p": "p.Cys172Arg"
}
],
"clinvar_disease": "Congenital neutropenia-myelofibrosis-nephromegaly syndrome,Inborn genetic diseases,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "Congenital neutropenia-myelofibrosis-nephromegaly syndrome|Inborn genetic diseases|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}