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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: 6-17625876-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=17625876&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 17625876,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001278209.2",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP153",
"gene_hgnc_id": 8062,
"hgvs_c": "c.3833G>A",
"hgvs_p": "p.Gly1278Glu",
"transcript": "NM_005124.4",
"protein_id": "NP_005115.2",
"transcript_support_level": null,
"aa_start": 1278,
"aa_end": null,
"aa_length": 1475,
"cds_start": 3833,
"cds_end": null,
"cds_length": 4428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000262077.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005124.4"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP153",
"gene_hgnc_id": 8062,
"hgvs_c": "c.3833G>A",
"hgvs_p": "p.Gly1278Glu",
"transcript": "ENST00000262077.3",
"protein_id": "ENSP00000262077.3",
"transcript_support_level": 1,
"aa_start": 1278,
"aa_end": null,
"aa_length": 1475,
"cds_start": 3833,
"cds_end": null,
"cds_length": 4428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005124.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262077.3"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP153",
"gene_hgnc_id": 8062,
"hgvs_c": "c.3707G>A",
"hgvs_p": "p.Gly1236Glu",
"transcript": "ENST00000613258.4",
"protein_id": "ENSP00000478627.1",
"transcript_support_level": 1,
"aa_start": 1236,
"aa_end": null,
"aa_length": 1433,
"cds_start": 3707,
"cds_end": null,
"cds_length": 4302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000613258.4"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP153",
"gene_hgnc_id": 8062,
"hgvs_c": "c.3926G>A",
"hgvs_p": "p.Gly1309Glu",
"transcript": "NM_001278209.2",
"protein_id": "NP_001265138.1",
"transcript_support_level": null,
"aa_start": 1309,
"aa_end": null,
"aa_length": 1506,
"cds_start": 3926,
"cds_end": null,
"cds_length": 4521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278209.2"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP153",
"gene_hgnc_id": 8062,
"hgvs_c": "c.3926G>A",
"hgvs_p": "p.Gly1309Glu",
"transcript": "ENST00000537253.5",
"protein_id": "ENSP00000444029.1",
"transcript_support_level": 2,
"aa_start": 1309,
"aa_end": null,
"aa_length": 1506,
"cds_start": 3926,
"cds_end": null,
"cds_length": 4521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000537253.5"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP153",
"gene_hgnc_id": 8062,
"hgvs_c": "c.3902G>A",
"hgvs_p": "p.Gly1301Glu",
"transcript": "ENST00000874443.1",
"protein_id": "ENSP00000544502.1",
"transcript_support_level": null,
"aa_start": 1301,
"aa_end": null,
"aa_length": 1498,
"cds_start": 3902,
"cds_end": null,
"cds_length": 4497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874443.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP153",
"gene_hgnc_id": 8062,
"hgvs_c": "c.3872G>A",
"hgvs_p": "p.Gly1291Glu",
"transcript": "ENST00000940942.1",
"protein_id": "ENSP00000611001.1",
"transcript_support_level": null,
"aa_start": 1291,
"aa_end": null,
"aa_length": 1488,
"cds_start": 3872,
"cds_end": null,
"cds_length": 4467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940942.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP153",
"gene_hgnc_id": 8062,
"hgvs_c": "c.3824G>A",
"hgvs_p": "p.Gly1275Glu",
"transcript": "ENST00000912068.1",
"protein_id": "ENSP00000582127.1",
"transcript_support_level": null,
"aa_start": 1275,
"aa_end": null,
"aa_length": 1472,
"cds_start": 3824,
"cds_end": null,
"cds_length": 4419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912068.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP153",
"gene_hgnc_id": 8062,
"hgvs_c": "c.3815G>A",
"hgvs_p": "p.Gly1272Glu",
"transcript": "ENST00000874441.1",
"protein_id": "ENSP00000544500.1",
"transcript_support_level": null,
"aa_start": 1272,
"aa_end": null,
"aa_length": 1469,
"cds_start": 3815,
"cds_end": null,
"cds_length": 4410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874441.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP153",
"gene_hgnc_id": 8062,
"hgvs_c": "c.3809G>A",
"hgvs_p": "p.Gly1270Glu",
"transcript": "ENST00000874446.1",
"protein_id": "ENSP00000544505.1",
"transcript_support_level": null,
"aa_start": 1270,
"aa_end": null,
"aa_length": 1467,
"cds_start": 3809,
"cds_end": null,
"cds_length": 4404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874446.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP153",
"gene_hgnc_id": 8062,
"hgvs_c": "c.3797G>A",
"hgvs_p": "p.Gly1266Glu",
"transcript": "ENST00000874444.1",
"protein_id": "ENSP00000544503.1",
"transcript_support_level": null,
"aa_start": 1266,
"aa_end": null,
"aa_length": 1463,
"cds_start": 3797,
"cds_end": null,
"cds_length": 4392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874444.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP153",
"gene_hgnc_id": 8062,
"hgvs_c": "c.3779G>A",
"hgvs_p": "p.Gly1260Glu",
"transcript": "ENST00000874440.1",
"protein_id": "ENSP00000544499.1",
"transcript_support_level": null,
"aa_start": 1260,
"aa_end": null,
"aa_length": 1457,
"cds_start": 3779,
"cds_end": null,
"cds_length": 4374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874440.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP153",
"gene_hgnc_id": 8062,
"hgvs_c": "c.3761G>A",
"hgvs_p": "p.Gly1254Glu",
"transcript": "ENST00000912066.1",
"protein_id": "ENSP00000582125.1",
"transcript_support_level": null,
"aa_start": 1254,
"aa_end": null,
"aa_length": 1451,
"cds_start": 3761,
"cds_end": null,
"cds_length": 4356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912066.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP153",
"gene_hgnc_id": 8062,
"hgvs_c": "c.3755G>A",
"hgvs_p": "p.Gly1252Glu",
"transcript": "ENST00000912064.1",
"protein_id": "ENSP00000582123.1",
"transcript_support_level": null,
"aa_start": 1252,
"aa_end": null,
"aa_length": 1449,
"cds_start": 3755,
"cds_end": null,
"cds_length": 4350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912064.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP153",
"gene_hgnc_id": 8062,
"hgvs_c": "c.3734G>A",
"hgvs_p": "p.Gly1245Glu",
"transcript": "ENST00000912065.1",
"protein_id": "ENSP00000582124.1",
"transcript_support_level": null,
"aa_start": 1245,
"aa_end": null,
"aa_length": 1442,
"cds_start": 3734,
"cds_end": null,
"cds_length": 4329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912065.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP153",
"gene_hgnc_id": 8062,
"hgvs_c": "c.3716G>A",
"hgvs_p": "p.Gly1239Glu",
"transcript": "ENST00000940941.1",
"protein_id": "ENSP00000611000.1",
"transcript_support_level": null,
"aa_start": 1239,
"aa_end": null,
"aa_length": 1436,
"cds_start": 3716,
"cds_end": null,
"cds_length": 4311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940941.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP153",
"gene_hgnc_id": 8062,
"hgvs_c": "c.3707G>A",
"hgvs_p": "p.Gly1236Glu",
"transcript": "NM_001278210.2",
"protein_id": "NP_001265139.1",
"transcript_support_level": null,
"aa_start": 1236,
"aa_end": null,
"aa_length": 1433,
"cds_start": 3707,
"cds_end": null,
"cds_length": 4302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278210.2"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP153",
"gene_hgnc_id": 8062,
"hgvs_c": "c.3686G>A",
"hgvs_p": "p.Gly1229Glu",
"transcript": "ENST00000912070.1",
"protein_id": "ENSP00000582129.1",
"transcript_support_level": null,
"aa_start": 1229,
"aa_end": null,
"aa_length": 1426,
"cds_start": 3686,
"cds_end": null,
"cds_length": 4281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912070.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP153",
"gene_hgnc_id": 8062,
"hgvs_c": "c.3638G>A",
"hgvs_p": "p.Gly1213Glu",
"transcript": "ENST00000912067.1",
"protein_id": "ENSP00000582126.1",
"transcript_support_level": null,
"aa_start": 1213,
"aa_end": null,
"aa_length": 1410,
"cds_start": 3638,
"cds_end": null,
"cds_length": 4233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912067.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP153",
"gene_hgnc_id": 8062,
"hgvs_c": "c.3617G>A",
"hgvs_p": "p.Gly1206Glu",
"transcript": "ENST00000874442.1",
"protein_id": "ENSP00000544501.1",
"transcript_support_level": null,
"aa_start": 1206,
"aa_end": null,
"aa_length": 1403,
"cds_start": 3617,
"cds_end": null,
"cds_length": 4212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874442.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP153",
"gene_hgnc_id": 8062,
"hgvs_c": "c.3554G>A",
"hgvs_p": "p.Gly1185Glu",
"transcript": "ENST00000874445.1",
"protein_id": "ENSP00000544504.1",
"transcript_support_level": null,
"aa_start": 1185,
"aa_end": null,
"aa_length": 1382,
"cds_start": 3554,
"cds_end": null,
"cds_length": 4149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874445.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP153",
"gene_hgnc_id": 8062,
"hgvs_c": "c.3512G>A",
"hgvs_p": "p.Gly1171Glu",
"transcript": "ENST00000912069.1",
"protein_id": "ENSP00000582128.1",
"transcript_support_level": null,
"aa_start": 1171,
"aa_end": null,
"aa_length": 1368,
"cds_start": 3512,
"cds_end": null,
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{
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],
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},
{
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],
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{
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],
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},
{
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],
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"gene_symbol": "NUP153",
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"biotype": "protein_coding",
"feature": "ENST00000940939.1"
}
],
"gene_symbol": "NUP153",
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"dbsnp": "rs981373966",
"frequency_reference_population": 0.0000041043095,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000410431,
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"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2394028902053833,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.086,
"revel_prediction": "Benign",
"alphamissense_score": 0.2249,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.41,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.782,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001278209.2",
"gene_symbol": "NUP153",
"hgnc_id": 8062,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3926G>A",
"hgvs_p": "p.Gly1309Glu"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}