← Back to variant description
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: 16-67990853-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=67990853&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 67990853,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_022355.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP2",
"gene_hgnc_id": 23028,
"hgvs_c": "c.877C>G",
"hgvs_p": "p.Arg293Gly",
"transcript": "NM_022355.4",
"protein_id": "NP_071750.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 486,
"cds_start": 877,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 1032,
"cdna_end": null,
"cdna_length": 1728,
"mane_select": "ENST00000393847.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022355.4"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP2",
"gene_hgnc_id": 23028,
"hgvs_c": "c.877C>G",
"hgvs_p": "p.Arg293Gly",
"transcript": "ENST00000393847.6",
"protein_id": "ENSP00000377430.1",
"transcript_support_level": 1,
"aa_start": 293,
"aa_end": null,
"aa_length": 486,
"cds_start": 877,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 1032,
"cdna_end": null,
"cdna_length": 1728,
"mane_select": "NM_022355.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393847.6"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP2",
"gene_hgnc_id": 23028,
"hgvs_c": "c.877C>G",
"hgvs_p": "p.Arg293Gly",
"transcript": "ENST00000572888.5",
"protein_id": "ENSP00000458977.1",
"transcript_support_level": 1,
"aa_start": 293,
"aa_end": null,
"aa_length": 486,
"cds_start": 877,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 1528,
"cdna_end": null,
"cdna_length": 2112,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000572888.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP2",
"gene_hgnc_id": 23028,
"hgvs_c": "c.877C>G",
"hgvs_p": "p.Arg293Gly",
"transcript": "ENST00000867048.1",
"protein_id": "ENSP00000537107.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 499,
"cds_start": 877,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 1033,
"cdna_end": null,
"cdna_length": 1768,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867048.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP2",
"gene_hgnc_id": 23028,
"hgvs_c": "c.877C>G",
"hgvs_p": "p.Arg293Gly",
"transcript": "ENST00000970170.1",
"protein_id": "ENSP00000640229.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 499,
"cds_start": 877,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 1162,
"cdna_end": null,
"cdna_length": 1894,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970170.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP2",
"gene_hgnc_id": 23028,
"hgvs_c": "c.877C>G",
"hgvs_p": "p.Arg293Gly",
"transcript": "ENST00000867045.1",
"protein_id": "ENSP00000537104.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 491,
"cds_start": 877,
"cds_end": null,
"cds_length": 1476,
"cdna_start": 1030,
"cdna_end": null,
"cdna_length": 1738,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867045.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP2",
"gene_hgnc_id": 23028,
"hgvs_c": "c.877C>G",
"hgvs_p": "p.Arg293Gly",
"transcript": "ENST00000970168.1",
"protein_id": "ENSP00000640227.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 491,
"cds_start": 877,
"cds_end": null,
"cds_length": 1476,
"cdna_start": 1014,
"cdna_end": null,
"cdna_length": 1720,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970168.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP2",
"gene_hgnc_id": 23028,
"hgvs_c": "c.877C>G",
"hgvs_p": "p.Arg293Gly",
"transcript": "ENST00000970171.1",
"protein_id": "ENSP00000640230.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 491,
"cds_start": 877,
"cds_end": null,
"cds_length": 1476,
"cdna_start": 1049,
"cdna_end": null,
"cdna_length": 1754,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970171.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP2",
"gene_hgnc_id": 23028,
"hgvs_c": "c.877C>G",
"hgvs_p": "p.Arg293Gly",
"transcript": "NM_001369657.1",
"protein_id": "NP_001356586.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 486,
"cds_start": 877,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 1059,
"cdna_end": null,
"cdna_length": 1759,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369657.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP2",
"gene_hgnc_id": 23028,
"hgvs_c": "c.877C>G",
"hgvs_p": "p.Arg293Gly",
"transcript": "ENST00000867043.1",
"protein_id": "ENSP00000537102.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 486,
"cds_start": 877,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 1090,
"cdna_end": null,
"cdna_length": 1788,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867043.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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": "DPEP2",
"gene_hgnc_id": 23028,
"hgvs_c": "c.877C>G",
"hgvs_p": "p.Arg293Gly",
"transcript": "ENST00000867046.1",
"protein_id": "ENSP00000537105.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 486,
"cds_start": 877,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 1206,
"cdna_end": null,
"cdna_length": 1904,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867046.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP2",
"gene_hgnc_id": 23028,
"hgvs_c": "c.877C>G",
"hgvs_p": "p.Arg293Gly",
"transcript": "ENST00000867047.1",
"protein_id": "ENSP00000537106.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 486,
"cds_start": 877,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 1050,
"cdna_end": null,
"cdna_length": 1746,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867047.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP2",
"gene_hgnc_id": 23028,
"hgvs_c": "c.877C>G",
"hgvs_p": "p.Arg293Gly",
"transcript": "ENST00000867049.1",
"protein_id": "ENSP00000537108.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 486,
"cds_start": 877,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 1035,
"cdna_end": null,
"cdna_length": 1731,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867049.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP2",
"gene_hgnc_id": 23028,
"hgvs_c": "c.877C>G",
"hgvs_p": "p.Arg293Gly",
"transcript": "ENST00000867050.1",
"protein_id": "ENSP00000537109.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 486,
"cds_start": 877,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 1129,
"cdna_end": null,
"cdna_length": 1827,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867050.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP2",
"gene_hgnc_id": 23028,
"hgvs_c": "c.850C>G",
"hgvs_p": "p.Arg284Gly",
"transcript": "ENST00000867044.1",
"protein_id": "ENSP00000537103.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 477,
"cds_start": 850,
"cds_end": null,
"cds_length": 1434,
"cdna_start": 1029,
"cdna_end": null,
"cdna_length": 1725,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867044.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP2",
"gene_hgnc_id": 23028,
"hgvs_c": "c.850C>G",
"hgvs_p": "p.Arg284Gly",
"transcript": "ENST00000970169.1",
"protein_id": "ENSP00000640228.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 477,
"cds_start": 850,
"cds_end": null,
"cds_length": 1434,
"cdna_start": 982,
"cdna_end": null,
"cdna_length": 1674,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970169.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP2",
"gene_hgnc_id": 23028,
"hgvs_c": "c.403C>G",
"hgvs_p": "p.Arg135Gly",
"transcript": "NM_001324159.2",
"protein_id": "NP_001311088.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 328,
"cds_start": 403,
"cds_end": null,
"cds_length": 987,
"cdna_start": 573,
"cdna_end": null,
"cdna_length": 1269,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324159.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP2",
"gene_hgnc_id": 23028,
"hgvs_c": "c.253C>G",
"hgvs_p": "p.Arg85Gly",
"transcript": "ENST00000575510.5",
"protein_id": "ENSP00000462652.1",
"transcript_support_level": 3,
"aa_start": 85,
"aa_end": null,
"aa_length": 121,
"cds_start": 253,
"cds_end": null,
"cds_length": 368,
"cdna_start": 332,
"cdna_end": null,
"cdna_length": 447,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000575510.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP2",
"gene_hgnc_id": 23028,
"hgvs_c": "c.877C>G",
"hgvs_p": "p.Arg293Gly",
"transcript": "XM_011523266.2",
"protein_id": "XP_011521568.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 499,
"cds_start": 877,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 1032,
"cdna_end": null,
"cdna_length": 1771,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011523266.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP2",
"gene_hgnc_id": 23028,
"hgvs_c": "c.877C>G",
"hgvs_p": "p.Arg293Gly",
"transcript": "XM_024450372.2",
"protein_id": "XP_024306140.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 499,
"cds_start": 877,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 1008,
"cdna_end": null,
"cdna_length": 1747,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450372.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP2",
"gene_hgnc_id": 23028,
"hgvs_c": "c.877C>G",
"hgvs_p": "p.Arg293Gly",
"transcript": "XM_024450373.2",
"protein_id": "XP_024306141.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 499,
"cds_start": 877,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 1094,
"cdna_end": null,
"cdna_length": 1833,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450373.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP2",
"gene_hgnc_id": 23028,
"hgvs_c": "c.877C>G",
"hgvs_p": "p.Arg293Gly",
"transcript": "XM_024450374.2",
"protein_id": "XP_024306142.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 499,
"cds_start": 877,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 1011,
"cdna_end": null,
"cdna_length": 1750,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450374.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP2",
"gene_hgnc_id": 23028,
"hgvs_c": "c.877C>G",
"hgvs_p": "p.Arg293Gly",
"transcript": "XM_047434459.1",
"protein_id": "XP_047290415.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 499,
"cds_start": 877,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 1740,
"cdna_end": null,
"cdna_length": 2479,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434459.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP2",
"gene_hgnc_id": 23028,
"hgvs_c": "c.877C>G",
"hgvs_p": "p.Arg293Gly",
"transcript": "XM_011523268.3",
"protein_id": "XP_011521570.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 491,
"cds_start": 877,
"cds_end": null,
"cds_length": 1476,
"cdna_start": 1059,
"cdna_end": null,
"cdna_length": 1774,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011523268.3"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP2",
"gene_hgnc_id": 23028,
"hgvs_c": "c.877C>G",
"hgvs_p": "p.Arg293Gly",
"transcript": "XM_047434460.1",
"protein_id": "XP_047290416.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 486,
"cds_start": 877,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 1008,
"cdna_end": null,
"cdna_length": 1708,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434460.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP2",
"gene_hgnc_id": 23028,
"hgvs_c": "c.529C>G",
"hgvs_p": "p.Arg177Gly",
"transcript": "XM_047434461.1",
"protein_id": "XP_047290417.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 383,
"cds_start": 529,
"cds_end": null,
"cds_length": 1152,
"cdna_start": 597,
"cdna_end": null,
"cdna_length": 1336,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434461.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP2",
"gene_hgnc_id": 23028,
"hgvs_c": "c.877C>G",
"hgvs_p": "p.Arg293Gly",
"transcript": "XM_005256090.5",
"protein_id": "XP_005256147.2",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 376,
"cds_start": 877,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 1059,
"cdna_end": null,
"cdna_length": 1623,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005256090.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP2",
"gene_hgnc_id": 23028,
"hgvs_c": "c.508C>G",
"hgvs_p": "p.Arg170Gly",
"transcript": "XM_047434462.1",
"protein_id": "XP_047290418.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 376,
"cds_start": 508,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 576,
"cdna_end": null,
"cdna_length": 1315,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434462.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP2",
"gene_hgnc_id": 23028,
"hgvs_c": "c.877C>G",
"hgvs_p": "p.Arg293Gly",
"transcript": "XM_047434463.1",
"protein_id": "XP_047290419.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 347,
"cds_start": 877,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 1059,
"cdna_end": null,
"cdna_length": 1322,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434463.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP2",
"gene_hgnc_id": 23028,
"hgvs_c": "c.877C>G",
"hgvs_p": "p.Arg293Gly",
"transcript": "XM_011523271.3",
"protein_id": "XP_011521573.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 345,
"cds_start": 877,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 1059,
"cdna_end": null,
"cdna_length": 1538,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011523271.3"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP2",
"gene_hgnc_id": 23028,
"hgvs_c": "c.877C>G",
"hgvs_p": "p.Arg293Gly",
"transcript": "XM_047434464.1",
"protein_id": "XP_047290420.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 342,
"cds_start": 877,
"cds_end": null,
"cds_length": 1029,
"cdna_start": 1059,
"cdna_end": null,
"cdna_length": 1307,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434464.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP2",
"gene_hgnc_id": 23028,
"hgvs_c": "c.403C>G",
"hgvs_p": "p.Arg135Gly",
"transcript": "XM_011523273.4",
"protein_id": "XP_011521575.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 341,
"cds_start": 403,
"cds_end": null,
"cds_length": 1026,
"cdna_start": 659,
"cdna_end": null,
"cdna_length": 1398,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011523273.4"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP2",
"gene_hgnc_id": 23028,
"hgvs_c": "c.403C>G",
"hgvs_p": "p.Arg135Gly",
"transcript": "XM_017023545.2",
"protein_id": "XP_016879034.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 341,
"cds_start": 403,
"cds_end": null,
"cds_length": 1026,
"cdna_start": 573,
"cdna_end": null,
"cdna_length": 1312,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017023545.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP2",
"gene_hgnc_id": 23028,
"hgvs_c": "c.877C>G",
"hgvs_p": "p.Arg293Gly",
"transcript": "XM_047434465.1",
"protein_id": "XP_047290421.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 332,
"cds_start": 877,
"cds_end": null,
"cds_length": 999,
"cdna_start": 1059,
"cdna_end": null,
"cdna_length": 1346,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434465.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP2",
"gene_hgnc_id": 23028,
"hgvs_c": "c.253C>G",
"hgvs_p": "p.Arg85Gly",
"transcript": "XM_011523274.4",
"protein_id": "XP_011521576.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 291,
"cds_start": 253,
"cds_end": null,
"cds_length": 876,
"cdna_start": 387,
"cdna_end": null,
"cdna_length": 1126,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011523274.4"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP2",
"gene_hgnc_id": 23028,
"hgvs_c": "c.253C>G",
"hgvs_p": "p.Arg85Gly",
"transcript": "XM_024450376.2",
"protein_id": "XP_024306144.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 278,
"cds_start": 253,
"cds_end": null,
"cds_length": 837,
"cdna_start": 387,
"cdna_end": null,
"cdna_length": 1087,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450376.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP2",
"gene_hgnc_id": 23028,
"hgvs_c": "c.130C>G",
"hgvs_p": "p.Arg44Gly",
"transcript": "XM_017023547.2",
"protein_id": "XP_016879036.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 250,
"cds_start": 130,
"cds_end": null,
"cds_length": 753,
"cdna_start": 317,
"cdna_end": null,
"cdna_length": 1056,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017023547.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DUS2",
"gene_hgnc_id": 26014,
"hgvs_c": "c.-170+2900G>C",
"hgvs_p": null,
"transcript": "ENST00000970018.1",
"protein_id": "ENSP00000640077.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 493,
"cds_start": null,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2190,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970018.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DUS2",
"gene_hgnc_id": 26014,
"hgvs_c": "c.-19+2900G>C",
"hgvs_p": null,
"transcript": "ENST00000570709.6",
"protein_id": "ENSP00000461244.3",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 122,
"cds_start": null,
"cds_end": null,
"cds_length": 369,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 569,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000570709.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DUS2",
"gene_hgnc_id": 26014,
"hgvs_c": "c.-99+2900G>C",
"hgvs_p": null,
"transcript": "ENST00000571081.6",
"protein_id": "ENSP00000458906.3",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 87,
"cds_start": null,
"cds_end": null,
"cds_length": 264,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 570,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000571081.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP2",
"gene_hgnc_id": 23028,
"hgvs_c": "n.*42C>G",
"hgvs_p": null,
"transcript": "ENST00000575203.5",
"protein_id": "ENSP00000459375.1",
"transcript_support_level": 2,
"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": 2248,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000575203.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP2",
"gene_hgnc_id": 23028,
"hgvs_c": "n.1518C>G",
"hgvs_p": null,
"transcript": "NR_136706.2",
"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": 2284,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_136706.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP2",
"gene_hgnc_id": 23028,
"hgvs_c": "n.1001C>G",
"hgvs_p": null,
"transcript": "XR_243420.5",
"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": 1118,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_243420.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP2",
"gene_hgnc_id": 23028,
"hgvs_c": "n.1001C>G",
"hgvs_p": null,
"transcript": "XR_933392.4",
"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": 1107,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_933392.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP2",
"gene_hgnc_id": 23028,
"hgvs_c": "n.*42C>G",
"hgvs_p": null,
"transcript": "ENST00000575203.5",
"protein_id": "ENSP00000459375.1",
"transcript_support_level": 2,
"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": 2248,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000575203.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP2",
"gene_hgnc_id": 23028,
"hgvs_c": "c.*45C>G",
"hgvs_p": null,
"transcript": "ENST00000573808.1",
"protein_id": "ENSP00000463604.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 160,
"cds_start": null,
"cds_end": null,
"cds_length": 484,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 580,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000573808.1"
}
],
"gene_symbol": "DPEP2",
"gene_hgnc_id": 23028,
"dbsnp": "rs376501465",
"frequency_reference_population": 0.0000013681837,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136818,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9484602212905884,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.251,
"revel_prediction": "Benign",
"alphamissense_score": 0.2845,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.13,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.05,
"phylop100way_prediction": "Benign",
"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": 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_022355.4",
"gene_symbol": "DPEP2",
"hgnc_id": 23028,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.877C>G",
"hgvs_p": "p.Arg293Gly"
},
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000570709.6",
"gene_symbol": "DUS2",
"hgnc_id": 26014,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-19+2900G>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}