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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: 2-219382135-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=219382135&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 219382135,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001319116.2",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNPEP",
"gene_hgnc_id": 2981,
"hgvs_c": "c.941G>T",
"hgvs_p": "p.Gly314Val",
"transcript": "NM_012100.4",
"protein_id": "NP_036232.2",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 485,
"cds_start": 941,
"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": "G",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNPEP",
"gene_hgnc_id": 2981,
"hgvs_c": "c.941G>T",
"hgvs_p": "p.Gly314Val",
"transcript": "ENST00000273075.9",
"protein_id": "ENSP00000273075.4",
"transcript_support_level": 1,
"aa_start": 314,
"aa_end": null,
"aa_length": 485,
"cds_start": 941,
"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": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNPEP",
"gene_hgnc_id": 2981,
"hgvs_c": "c.965G>T",
"hgvs_p": "p.Gly322Val",
"transcript": "NM_001319116.2",
"protein_id": "NP_001306045.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 493,
"cds_start": 965,
"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": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNPEP",
"gene_hgnc_id": 2981,
"hgvs_c": "c.965G>T",
"hgvs_p": "p.Gly322Val",
"transcript": "ENST00000523282.6",
"protein_id": "ENSP00000431076.1",
"transcript_support_level": 2,
"aa_start": 322,
"aa_end": null,
"aa_length": 493,
"cds_start": 965,
"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": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNPEP",
"gene_hgnc_id": 2981,
"hgvs_c": "c.959G>T",
"hgvs_p": "p.Gly320Val",
"transcript": "ENST00000851982.1",
"protein_id": "ENSP00000522041.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 491,
"cds_start": 959,
"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": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNPEP",
"gene_hgnc_id": 2981,
"hgvs_c": "c.941G>T",
"hgvs_p": "p.Gly314Val",
"transcript": "ENST00000851983.1",
"protein_id": "ENSP00000522042.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 481,
"cds_start": 941,
"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": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNPEP",
"gene_hgnc_id": 2981,
"hgvs_c": "c.941G>T",
"hgvs_p": "p.Gly314Val",
"transcript": "ENST00000851986.1",
"protein_id": "ENSP00000522045.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 480,
"cds_start": 941,
"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": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNPEP",
"gene_hgnc_id": 2981,
"hgvs_c": "c.899G>T",
"hgvs_p": "p.Gly300Val",
"transcript": "NM_001319118.2",
"protein_id": "NP_001306047.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 471,
"cds_start": 899,
"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": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNPEP",
"gene_hgnc_id": 2981,
"hgvs_c": "c.899G>T",
"hgvs_p": "p.Gly300Val",
"transcript": "NM_001319119.2",
"protein_id": "NP_001306048.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 471,
"cds_start": 899,
"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": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNPEP",
"gene_hgnc_id": 2981,
"hgvs_c": "c.899G>T",
"hgvs_p": "p.Gly300Val",
"transcript": "ENST00000520694.6",
"protein_id": "ENSP00000429468.2",
"transcript_support_level": 3,
"aa_start": 300,
"aa_end": null,
"aa_length": 471,
"cds_start": 899,
"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": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNPEP",
"gene_hgnc_id": 2981,
"hgvs_c": "c.857G>T",
"hgvs_p": "p.Gly286Val",
"transcript": "NM_001319117.2",
"protein_id": "NP_001306046.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 457,
"cds_start": 857,
"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": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNPEP",
"gene_hgnc_id": 2981,
"hgvs_c": "c.857G>T",
"hgvs_p": "p.Gly286Val",
"transcript": "ENST00000964369.1",
"protein_id": "ENSP00000634428.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 457,
"cds_start": 857,
"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": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNPEP",
"gene_hgnc_id": 2981,
"hgvs_c": "c.833G>T",
"hgvs_p": "p.Gly278Val",
"transcript": "NM_001319120.2",
"protein_id": "NP_001306049.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 449,
"cds_start": 833,
"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": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNPEP",
"gene_hgnc_id": 2981,
"hgvs_c": "c.833G>T",
"hgvs_p": "p.Gly278Val",
"transcript": "ENST00000925428.1",
"protein_id": "ENSP00000595487.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 449,
"cds_start": 833,
"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": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNPEP",
"gene_hgnc_id": 2981,
"hgvs_c": "c.827G>T",
"hgvs_p": "p.Gly276Val",
"transcript": "ENST00000851985.1",
"protein_id": "ENSP00000522044.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 447,
"cds_start": 827,
"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": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNPEP",
"gene_hgnc_id": 2981,
"hgvs_c": "c.818G>T",
"hgvs_p": "p.Gly273Val",
"transcript": "ENST00000964371.1",
"protein_id": "ENSP00000634430.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 444,
"cds_start": 818,
"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": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNPEP",
"gene_hgnc_id": 2981,
"hgvs_c": "c.782G>T",
"hgvs_p": "p.Gly261Val",
"transcript": "NM_001319121.2",
"protein_id": "NP_001306050.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 432,
"cds_start": 782,
"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": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNPEP",
"gene_hgnc_id": 2981,
"hgvs_c": "c.782G>T",
"hgvs_p": "p.Gly261Val",
"transcript": "NM_001319122.2",
"protein_id": "NP_001306051.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 432,
"cds_start": 782,
"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": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNPEP",
"gene_hgnc_id": 2981,
"hgvs_c": "c.716G>T",
"hgvs_p": "p.Gly239Val",
"transcript": "ENST00000373972.5",
"protein_id": "ENSP00000363083.1",
"transcript_support_level": 2,
"aa_start": 239,
"aa_end": null,
"aa_length": 410,
"cds_start": 716,
"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": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNPEP",
"gene_hgnc_id": 2981,
"hgvs_c": "c.644G>T",
"hgvs_p": "p.Gly215Val",
"transcript": "ENST00000964370.1",
"protein_id": "ENSP00000634429.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 386,
"cds_start": 644,
"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": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNPEP",
"gene_hgnc_id": 2981,
"hgvs_c": "c.857G>T",
"hgvs_p": "p.Gly286Val",
"transcript": "ENST00000457935.5",
"protein_id": "ENSP00000410684.1",
"transcript_support_level": 5,
"aa_start": 286,
"aa_end": null,
"aa_length": 330,
"cds_start": 857,
"cds_end": null,
"cds_length": 994,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000457935.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "DNPEP",
"gene_hgnc_id": 2981,
"hgvs_c": "c.937-17G>T",
"hgvs_p": null,
"transcript": "ENST00000851984.1",
"protein_id": "ENSP00000522043.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 478,
"cds_start": null,
"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": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
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],
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{
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},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
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"exon_count": 3,
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"transcript": "ENST00000488881.1",
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"biotype": "retained_intron",
"feature": "ENST00000488881.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 13,
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"gene_symbol": "DNPEP",
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"hgvs_c": "n.875G>T",
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"transcript": "NR_134970.2",
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"biotype": "pseudogene",
"feature": "NR_134970.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
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"exon_count": 15,
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"gene_symbol": "DNPEP",
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{
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"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
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"gene_symbol": "DNPEP",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000373966.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
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"intron_rank_end": null,
"gene_symbol": "DNPEP",
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"hgvs_c": "n.-245G>T",
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"transcript": "ENST00000490371.5",
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"transcript_support_level": 5,
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"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"
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],
"gene_symbol": "DNPEP",
"gene_hgnc_id": 2981,
"dbsnp": "rs766615900",
"frequency_reference_population": 0.000093812945,
"hom_count_reference_population": 0,
"allele_count_reference_population": 151,
"gnomad_exomes_af": 0.0000912624,
"gnomad_genomes_af": 0.000118227,
"gnomad_exomes_ac": 133,
"gnomad_genomes_ac": 18,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9665930867195129,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.946,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9255,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.48,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.637,
"phylop100way_prediction": "Pathogenic",
"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": "PP3_Strong",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PP3_Strong"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001319116.2",
"gene_symbol": "DNPEP",
"hgnc_id": 2981,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.965G>T",
"hgvs_p": "p.Gly322Val"
}
],
"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
}