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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: 13-52144761-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=52144761&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 52144761,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001424264.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK3",
"gene_hgnc_id": 7746,
"hgvs_c": "c.734G>A",
"hgvs_p": "p.Arg245His",
"transcript": "NM_002498.3",
"protein_id": "NP_002489.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 506,
"cds_start": 734,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000610828.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002498.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK3",
"gene_hgnc_id": 7746,
"hgvs_c": "c.734G>A",
"hgvs_p": "p.Arg245His",
"transcript": "ENST00000610828.5",
"protein_id": "ENSP00000480328.1",
"transcript_support_level": 1,
"aa_start": 245,
"aa_end": null,
"aa_length": 506,
"cds_start": 734,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002498.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000610828.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK3",
"gene_hgnc_id": 7746,
"hgvs_c": "c.752G>A",
"hgvs_p": "p.Arg251His",
"transcript": "NM_001424264.1",
"protein_id": "NP_001411193.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 512,
"cds_start": 752,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001424264.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK3",
"gene_hgnc_id": 7746,
"hgvs_c": "c.752G>A",
"hgvs_p": "p.Arg251His",
"transcript": "ENST00000962649.1",
"protein_id": "ENSP00000632708.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 512,
"cds_start": 752,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962649.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK3",
"gene_hgnc_id": 7746,
"hgvs_c": "c.734G>A",
"hgvs_p": "p.Arg245His",
"transcript": "NM_001424265.1",
"protein_id": "NP_001411194.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 506,
"cds_start": 734,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001424265.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK3",
"gene_hgnc_id": 7746,
"hgvs_c": "c.734G>A",
"hgvs_p": "p.Arg245His",
"transcript": "NM_001424266.1",
"protein_id": "NP_001411195.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 506,
"cds_start": 734,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001424266.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK3",
"gene_hgnc_id": 7746,
"hgvs_c": "c.734G>A",
"hgvs_p": "p.Arg245His",
"transcript": "NM_152720.3",
"protein_id": "NP_689933.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 506,
"cds_start": 734,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152720.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK3",
"gene_hgnc_id": 7746,
"hgvs_c": "c.734G>A",
"hgvs_p": "p.Arg245His",
"transcript": "ENST00000618534.4",
"protein_id": "ENSP00000484443.1",
"transcript_support_level": 5,
"aa_start": 245,
"aa_end": null,
"aa_length": 506,
"cds_start": 734,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000618534.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK3",
"gene_hgnc_id": 7746,
"hgvs_c": "c.734G>A",
"hgvs_p": "p.Arg245His",
"transcript": "ENST00000858785.1",
"protein_id": "ENSP00000528844.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 506,
"cds_start": 734,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858785.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK3",
"gene_hgnc_id": 7746,
"hgvs_c": "c.734G>A",
"hgvs_p": "p.Arg245His",
"transcript": "ENST00000858786.1",
"protein_id": "ENSP00000528845.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 506,
"cds_start": 734,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858786.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK3",
"gene_hgnc_id": 7746,
"hgvs_c": "c.734G>A",
"hgvs_p": "p.Arg245His",
"transcript": "ENST00000858787.1",
"protein_id": "ENSP00000528846.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 506,
"cds_start": 734,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858787.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK3",
"gene_hgnc_id": 7746,
"hgvs_c": "c.716G>A",
"hgvs_p": "p.Arg239His",
"transcript": "ENST00000913399.1",
"protein_id": "ENSP00000583458.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 500,
"cds_start": 716,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913399.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK3",
"gene_hgnc_id": 7746,
"hgvs_c": "c.734G>A",
"hgvs_p": "p.Arg245His",
"transcript": "ENST00000620675.4",
"protein_id": "ENSP00000481533.1",
"transcript_support_level": 5,
"aa_start": 245,
"aa_end": null,
"aa_length": 497,
"cds_start": 734,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000620675.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK3",
"gene_hgnc_id": 7746,
"hgvs_c": "c.734G>A",
"hgvs_p": "p.Arg245His",
"transcript": "NM_001424268.1",
"protein_id": "NP_001411197.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 489,
"cds_start": 734,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001424268.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK3",
"gene_hgnc_id": 7746,
"hgvs_c": "c.734G>A",
"hgvs_p": "p.Arg245His",
"transcript": "NM_001424269.1",
"protein_id": "NP_001411198.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 489,
"cds_start": 734,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001424269.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK3",
"gene_hgnc_id": 7746,
"hgvs_c": "c.734G>A",
"hgvs_p": "p.Arg245His",
"transcript": "ENST00000913401.1",
"protein_id": "ENSP00000583460.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 488,
"cds_start": 734,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913401.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK3",
"gene_hgnc_id": 7746,
"hgvs_c": "c.599G>A",
"hgvs_p": "p.Arg200His",
"transcript": "ENST00000913403.1",
"protein_id": "ENSP00000583462.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 461,
"cds_start": 599,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913403.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK3",
"gene_hgnc_id": 7746,
"hgvs_c": "c.734G>A",
"hgvs_p": "p.Arg245His",
"transcript": "ENST00000962648.1",
"protein_id": "ENSP00000632707.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 458,
"cds_start": 734,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962648.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK3",
"gene_hgnc_id": 7746,
"hgvs_c": "c.566G>A",
"hgvs_p": "p.Arg189His",
"transcript": "NM_001424254.1",
"protein_id": "NP_001411183.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 450,
"cds_start": 566,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001424254.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK3",
"gene_hgnc_id": 7746,
"hgvs_c": "c.566G>A",
"hgvs_p": "p.Arg189His",
"transcript": "NM_001424270.1",
"protein_id": "NP_001411199.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 433,
"cds_start": 566,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001424270.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK3",
"gene_hgnc_id": 7746,
"hgvs_c": "c.500G>A",
"hgvs_p": "p.Arg167His",
"transcript": "NM_001424255.1",
"protein_id": "NP_001411184.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 428,
"cds_start": 500,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001424255.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK3",
"gene_hgnc_id": 7746,
"hgvs_c": "c.500G>A",
"hgvs_p": "p.Arg167His",
"transcript": "NM_001424257.1",
"protein_id": "NP_001411186.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 428,
"cds_start": 500,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001424257.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
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},
{
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],
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"cds_start": 500,
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"biotype": "protein_coding",
"feature": "NM_001424271.1"
},
{
"aa_ref": "R",
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
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"exon_count": 13,
"intron_rank": null,
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"gene_symbol": "NEK3",
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"hgvs_c": "c.404G>A",
"hgvs_p": "p.Arg135His",
"transcript": "NM_001424259.1",
"protein_id": "NP_001411188.1",
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"aa_end": null,
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"cds_start": 404,
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"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"biotype": "protein_coding",
"feature": "NM_001424259.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
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"intron_rank": 8,
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"gene_symbol": "NEK3",
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"hgvs_c": "c.604-774G>A",
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"transcript": "ENST00000913402.1",
"protein_id": "ENSP00000583461.1",
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"biotype": "protein_coding",
"feature": "ENST00000913402.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"gene_symbol": "NEK3",
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"transcript": "ENST00000617054.1",
"protein_id": "ENSP00000484594.1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000617054.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
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"exon_count": 15,
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"gene_symbol": "NEK3",
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"hgvs_c": "n.846G>A",
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"transcript": "NR_164641.1",
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"cds_start": null,
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"cds_length": null,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_164641.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK3",
"gene_hgnc_id": 7746,
"hgvs_c": "n.*499G>A",
"hgvs_p": null,
"transcript": "ENST00000551355.5",
"protein_id": "ENSP00000447995.1",
"transcript_support_level": 5,
"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": "ENST00000551355.5"
}
],
"gene_symbol": "NEK3",
"gene_hgnc_id": 7746,
"dbsnp": "rs765927889",
"frequency_reference_population": 0.00001611324,
"hom_count_reference_population": 0,
"allele_count_reference_population": 26,
"gnomad_exomes_af": 0.0000171041,
"gnomad_genomes_af": 0.00000658129,
"gnomad_exomes_ac": 25,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9249566197395325,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.601,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9357,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.15,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.909,
"phylop100way_prediction": "Uncertain_significance",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001424264.1",
"gene_symbol": "NEK3",
"hgnc_id": 7746,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.752G>A",
"hgvs_p": "p.Arg251His"
}
],
"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
}