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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: 2-219374335-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=219374335&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 219374335,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001319116.2",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNPEP",
"gene_hgnc_id": 2981,
"hgvs_c": "c.1415T>C",
"hgvs_p": "p.Phe472Ser",
"transcript": "NM_012100.4",
"protein_id": "NP_036232.2",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 485,
"cds_start": 1415,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000273075.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012100.4"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNPEP",
"gene_hgnc_id": 2981,
"hgvs_c": "c.1415T>C",
"hgvs_p": "p.Phe472Ser",
"transcript": "ENST00000273075.9",
"protein_id": "ENSP00000273075.4",
"transcript_support_level": 1,
"aa_start": 472,
"aa_end": null,
"aa_length": 485,
"cds_start": 1415,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_012100.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000273075.9"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNPEP",
"gene_hgnc_id": 2981,
"hgvs_c": "c.1439T>C",
"hgvs_p": "p.Phe480Ser",
"transcript": "NM_001319116.2",
"protein_id": "NP_001306045.1",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 493,
"cds_start": 1439,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319116.2"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNPEP",
"gene_hgnc_id": 2981,
"hgvs_c": "c.1439T>C",
"hgvs_p": "p.Phe480Ser",
"transcript": "ENST00000523282.6",
"protein_id": "ENSP00000431076.1",
"transcript_support_level": 2,
"aa_start": 480,
"aa_end": null,
"aa_length": 493,
"cds_start": 1439,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000523282.6"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNPEP",
"gene_hgnc_id": 2981,
"hgvs_c": "c.1433T>C",
"hgvs_p": "p.Phe478Ser",
"transcript": "ENST00000851982.1",
"protein_id": "ENSP00000522041.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 491,
"cds_start": 1433,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851982.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNPEP",
"gene_hgnc_id": 2981,
"hgvs_c": "c.1403T>C",
"hgvs_p": "p.Phe468Ser",
"transcript": "ENST00000851983.1",
"protein_id": "ENSP00000522042.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 481,
"cds_start": 1403,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851983.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNPEP",
"gene_hgnc_id": 2981,
"hgvs_c": "c.1400T>C",
"hgvs_p": "p.Phe467Ser",
"transcript": "ENST00000851986.1",
"protein_id": "ENSP00000522045.1",
"transcript_support_level": null,
"aa_start": 467,
"aa_end": null,
"aa_length": 480,
"cds_start": 1400,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851986.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNPEP",
"gene_hgnc_id": 2981,
"hgvs_c": "c.1394T>C",
"hgvs_p": "p.Phe465Ser",
"transcript": "ENST00000851984.1",
"protein_id": "ENSP00000522043.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 478,
"cds_start": 1394,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851984.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNPEP",
"gene_hgnc_id": 2981,
"hgvs_c": "c.1373T>C",
"hgvs_p": "p.Phe458Ser",
"transcript": "NM_001319118.2",
"protein_id": "NP_001306047.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 471,
"cds_start": 1373,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319118.2"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNPEP",
"gene_hgnc_id": 2981,
"hgvs_c": "c.1373T>C",
"hgvs_p": "p.Phe458Ser",
"transcript": "NM_001319119.2",
"protein_id": "NP_001306048.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 471,
"cds_start": 1373,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319119.2"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNPEP",
"gene_hgnc_id": 2981,
"hgvs_c": "c.1373T>C",
"hgvs_p": "p.Phe458Ser",
"transcript": "ENST00000520694.6",
"protein_id": "ENSP00000429468.2",
"transcript_support_level": 3,
"aa_start": 458,
"aa_end": null,
"aa_length": 471,
"cds_start": 1373,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000520694.6"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNPEP",
"gene_hgnc_id": 2981,
"hgvs_c": "c.1331T>C",
"hgvs_p": "p.Phe444Ser",
"transcript": "NM_001319117.2",
"protein_id": "NP_001306046.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 457,
"cds_start": 1331,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319117.2"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNPEP",
"gene_hgnc_id": 2981,
"hgvs_c": "c.1331T>C",
"hgvs_p": "p.Phe444Ser",
"transcript": "ENST00000964369.1",
"protein_id": "ENSP00000634428.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 457,
"cds_start": 1331,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964369.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNPEP",
"gene_hgnc_id": 2981,
"hgvs_c": "c.1307T>C",
"hgvs_p": "p.Phe436Ser",
"transcript": "NM_001319120.2",
"protein_id": "NP_001306049.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 449,
"cds_start": 1307,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319120.2"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNPEP",
"gene_hgnc_id": 2981,
"hgvs_c": "c.1307T>C",
"hgvs_p": "p.Phe436Ser",
"transcript": "ENST00000925428.1",
"protein_id": "ENSP00000595487.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 449,
"cds_start": 1307,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925428.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNPEP",
"gene_hgnc_id": 2981,
"hgvs_c": "c.1301T>C",
"hgvs_p": "p.Phe434Ser",
"transcript": "ENST00000851985.1",
"protein_id": "ENSP00000522044.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 447,
"cds_start": 1301,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851985.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNPEP",
"gene_hgnc_id": 2981,
"hgvs_c": "c.1292T>C",
"hgvs_p": "p.Phe431Ser",
"transcript": "ENST00000964371.1",
"protein_id": "ENSP00000634430.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 444,
"cds_start": 1292,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964371.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNPEP",
"gene_hgnc_id": 2981,
"hgvs_c": "c.1256T>C",
"hgvs_p": "p.Phe419Ser",
"transcript": "NM_001319121.2",
"protein_id": "NP_001306050.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 432,
"cds_start": 1256,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319121.2"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNPEP",
"gene_hgnc_id": 2981,
"hgvs_c": "c.1256T>C",
"hgvs_p": "p.Phe419Ser",
"transcript": "NM_001319122.2",
"protein_id": "NP_001306051.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 432,
"cds_start": 1256,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319122.2"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNPEP",
"gene_hgnc_id": 2981,
"hgvs_c": "c.1190T>C",
"hgvs_p": "p.Phe397Ser",
"transcript": "ENST00000373972.5",
"protein_id": "ENSP00000363083.1",
"transcript_support_level": 2,
"aa_start": 397,
"aa_end": null,
"aa_length": 410,
"cds_start": 1190,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373972.5"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNPEP",
"gene_hgnc_id": 2981,
"hgvs_c": "c.1118T>C",
"hgvs_p": "p.Phe373Ser",
"transcript": "ENST00000964370.1",
"protein_id": "ENSP00000634429.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 386,
"cds_start": 1118,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964370.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNPEP",
"gene_hgnc_id": 2981,
"hgvs_c": "n.*1239T>C",
"hgvs_p": null,
"transcript": "ENST00000373963.5",
"protein_id": "ENSP00000363074.1",
"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",
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},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNPEP",
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"hgvs_c": "n.*1487T>C",
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"transcript": "ENST00000373966.5",
"protein_id": "ENSP00000363077.1",
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"aa_end": null,
"aa_length": null,
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"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000373966.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNPEP",
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"hgvs_c": "n.417T>C",
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"transcript": "ENST00000490371.5",
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"transcript_support_level": 5,
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"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": "pseudogene",
"feature": "ENST00000490371.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNPEP",
"gene_hgnc_id": 2981,
"hgvs_c": "n.1349T>C",
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"transcript": "NR_134970.2",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "NR_134970.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNPEP",
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"hgvs_c": "n.*1239T>C",
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"transcript": "ENST00000373963.5",
"protein_id": "ENSP00000363074.1",
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"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": "ENST00000373963.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNPEP",
"gene_hgnc_id": 2981,
"hgvs_c": "n.*1487T>C",
"hgvs_p": null,
"transcript": "ENST00000373966.5",
"protein_id": "ENSP00000363077.1",
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"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": "ENST00000373966.5"
}
],
"gene_symbol": "DNPEP",
"gene_hgnc_id": 2981,
"dbsnp": "rs777333984",
"frequency_reference_population": 0.000016728956,
"hom_count_reference_population": 0,
"allele_count_reference_population": 27,
"gnomad_exomes_af": 0.0000171023,
"gnomad_genomes_af": 0.0000131427,
"gnomad_exomes_ac": 25,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9836592078208923,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.789,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.916,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.4,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.443,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001319116.2",
"gene_symbol": "DNPEP",
"hgnc_id": 2981,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1439T>C",
"hgvs_p": "p.Phe480Ser"
}
],
"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
}