← 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: 1-200644514-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=200644514&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 200644514,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001031725.6",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.1600G>A",
"hgvs_p": "p.Gly534Arg",
"transcript": "NM_001031725.6",
"protein_id": "NP_001026895.2",
"transcript_support_level": null,
"aa_start": 534,
"aa_end": null,
"aa_length": 619,
"cds_start": 1600,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000331314.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001031725.6"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.1600G>A",
"hgvs_p": "p.Gly534Arg",
"transcript": "ENST00000331314.11",
"protein_id": "ENSP00000330460.6",
"transcript_support_level": 1,
"aa_start": 534,
"aa_end": null,
"aa_length": 619,
"cds_start": 1600,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001031725.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000331314.11"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.1600G>A",
"hgvs_p": "p.Gly534Arg",
"transcript": "NM_001349799.3",
"protein_id": "NP_001336728.1",
"transcript_support_level": null,
"aa_start": 534,
"aa_end": null,
"aa_length": 619,
"cds_start": 1600,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349799.3"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.1600G>A",
"hgvs_p": "p.Gly534Arg",
"transcript": "NM_001349800.3",
"protein_id": "NP_001336729.1",
"transcript_support_level": null,
"aa_start": 534,
"aa_end": null,
"aa_length": 619,
"cds_start": 1600,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349800.3"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.1600G>A",
"hgvs_p": "p.Gly534Arg",
"transcript": "ENST00000936161.1",
"protein_id": "ENSP00000606220.1",
"transcript_support_level": null,
"aa_start": 534,
"aa_end": null,
"aa_length": 619,
"cds_start": 1600,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936161.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.1600G>A",
"hgvs_p": "p.Gly534Arg",
"transcript": "ENST00000936162.1",
"protein_id": "ENSP00000606221.1",
"transcript_support_level": null,
"aa_start": 534,
"aa_end": null,
"aa_length": 619,
"cds_start": 1600,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936162.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.1600G>A",
"hgvs_p": "p.Gly534Arg",
"transcript": "ENST00000958771.1",
"protein_id": "ENSP00000628830.1",
"transcript_support_level": null,
"aa_start": 534,
"aa_end": null,
"aa_length": 619,
"cds_start": 1600,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958771.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.1600G>A",
"hgvs_p": "p.Gly534Arg",
"transcript": "ENST00000958772.1",
"protein_id": "ENSP00000628831.1",
"transcript_support_level": null,
"aa_start": 534,
"aa_end": null,
"aa_length": 619,
"cds_start": 1600,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958772.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.1600G>A",
"hgvs_p": "p.Gly534Arg",
"transcript": "ENST00000958776.1",
"protein_id": "ENSP00000628835.1",
"transcript_support_level": null,
"aa_start": 534,
"aa_end": null,
"aa_length": 619,
"cds_start": 1600,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958776.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.1600G>A",
"hgvs_p": "p.Gly534Arg",
"transcript": "ENST00000958777.1",
"protein_id": "ENSP00000628836.1",
"transcript_support_level": null,
"aa_start": 534,
"aa_end": null,
"aa_length": 619,
"cds_start": 1600,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958777.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.1534G>A",
"hgvs_p": "p.Gly512Arg",
"transcript": "ENST00000886517.1",
"protein_id": "ENSP00000556576.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 597,
"cds_start": 1534,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886517.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.1534G>A",
"hgvs_p": "p.Gly512Arg",
"transcript": "ENST00000958774.1",
"protein_id": "ENSP00000628833.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 597,
"cds_start": 1534,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958774.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.1525G>A",
"hgvs_p": "p.Gly509Arg",
"transcript": "ENST00000936159.1",
"protein_id": "ENSP00000606218.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 594,
"cds_start": 1525,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936159.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.1510G>A",
"hgvs_p": "p.Gly504Arg",
"transcript": "ENST00000886516.1",
"protein_id": "ENSP00000556575.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 589,
"cds_start": 1510,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886516.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.1471G>A",
"hgvs_p": "p.Gly491Arg",
"transcript": "NM_001349801.3",
"protein_id": "NP_001336730.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 576,
"cds_start": 1471,
"cds_end": null,
"cds_length": 1731,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349801.3"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.1471G>A",
"hgvs_p": "p.Gly491Arg",
"transcript": "ENST00000886515.1",
"protein_id": "ENSP00000556574.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 576,
"cds_start": 1471,
"cds_end": null,
"cds_length": 1731,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886515.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.1396G>A",
"hgvs_p": "p.Gly466Arg",
"transcript": "ENST00000958770.1",
"protein_id": "ENSP00000628829.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 551,
"cds_start": 1396,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958770.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.1348G>A",
"hgvs_p": "p.Gly450Arg",
"transcript": "NM_001349803.3",
"protein_id": "NP_001336732.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 535,
"cds_start": 1348,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349803.3"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.1348G>A",
"hgvs_p": "p.Gly450Arg",
"transcript": "ENST00000886518.1",
"protein_id": "ENSP00000556577.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 535,
"cds_start": 1348,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886518.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.1348G>A",
"hgvs_p": "p.Gly450Arg",
"transcript": "ENST00000958778.1",
"protein_id": "ENSP00000628837.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 535,
"cds_start": 1348,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958778.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.1318G>A",
"hgvs_p": "p.Gly440Arg",
"transcript": "ENST00000958775.1",
"protein_id": "ENSP00000628834.1",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 525,
"cds_start": 1318,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958775.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.1258G>A",
"hgvs_p": "p.Gly420Arg",
"transcript": "NM_001320182.1",
"protein_id": "NP_001307111.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 505,
"cds_start": 1258,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320182.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.1219G>A",
"hgvs_p": "p.Gly407Arg",
"transcript": "ENST00000936158.1",
"protein_id": "ENSP00000606217.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 492,
"cds_start": 1219,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936158.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.1195G>A",
"hgvs_p": "p.Gly399Arg",
"transcript": "ENST00000958773.1",
"protein_id": "ENSP00000628832.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 484,
"cds_start": 1195,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958773.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.1066G>A",
"hgvs_p": "p.Gly356Arg",
"transcript": "NM_001349804.2",
"protein_id": "NP_001336733.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 441,
"cds_start": 1066,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349804.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.1066G>A",
"hgvs_p": "p.Gly356Arg",
"transcript": "ENST00000936160.1",
"protein_id": "ENSP00000606219.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 441,
"cds_start": 1066,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936160.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.529G>A",
"hgvs_p": "p.Gly177Arg",
"transcript": "ENST00000433235.1",
"protein_id": "ENSP00000409954.1",
"transcript_support_level": 3,
"aa_start": 177,
"aa_end": null,
"aa_length": 223,
"cds_start": 529,
"cds_end": null,
"cds_length": 674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000433235.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Gly111Arg",
"transcript": "ENST00000429498.5",
"protein_id": "ENSP00000408662.1",
"transcript_support_level": 3,
"aa_start": 111,
"aa_end": null,
"aa_length": 196,
"cds_start": 331,
"cds_end": null,
"cds_length": 591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000429498.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.1600G>A",
"hgvs_p": "p.Gly534Arg",
"transcript": "XM_017002432.3",
"protein_id": "XP_016857921.1",
"transcript_support_level": null,
"aa_start": 534,
"aa_end": null,
"aa_length": 619,
"cds_start": 1600,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017002432.3"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.1471G>A",
"hgvs_p": "p.Gly491Arg",
"transcript": "XM_047431458.1",
"protein_id": "XP_047287414.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 576,
"cds_start": 1471,
"cds_end": null,
"cds_length": 1731,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431458.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.1471G>A",
"hgvs_p": "p.Gly491Arg",
"transcript": "XM_047431459.1",
"protein_id": "XP_047287415.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 576,
"cds_start": 1471,
"cds_end": null,
"cds_length": 1731,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431459.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.1348G>A",
"hgvs_p": "p.Gly450Arg",
"transcript": "XM_047431466.1",
"protein_id": "XP_047287422.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 535,
"cds_start": 1348,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431466.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.1219G>A",
"hgvs_p": "p.Gly407Arg",
"transcript": "XM_047431468.1",
"protein_id": "XP_047287424.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 492,
"cds_start": 1219,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431468.1"
},
{
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.1596+3925G>A",
"hgvs_p": null,
"transcript": "ENST00000447706.6",
"protein_id": "ENSP00000394367.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 580,
"cds_start": null,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000447706.6"
},
{
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.1597-3258G>A",
"hgvs_p": null,
"transcript": "NM_001320181.2",
"protein_id": "NP_001307110.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 567,
"cds_start": null,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320181.2"
},
{
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.1597-3329G>A",
"hgvs_p": null,
"transcript": "NM_001349802.3",
"protein_id": "NP_001336731.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 557,
"cds_start": null,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349802.3"
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.511-3258G>A",
"hgvs_p": null,
"transcript": "ENST00000413408.5",
"protein_id": "ENSP00000394304.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 205,
"cds_start": null,
"cds_end": null,
"cds_length": 618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000413408.5"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.205-3329G>A",
"hgvs_p": null,
"transcript": "ENST00000452560.5",
"protein_id": "ENSP00000416331.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 93,
"cds_start": null,
"cds_end": null,
"cds_length": 282,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000452560.5"
},
{
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.1597-3329G>A",
"hgvs_p": null,
"transcript": "XM_047431461.1",
"protein_id": "XP_047287417.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 557,
"cds_start": null,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431461.1"
},
{
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.1345-3258G>A",
"hgvs_p": null,
"transcript": "XM_047431471.1",
"protein_id": "XP_047287427.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 483,
"cds_start": null,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431471.1"
},
{
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.1345-3258G>A",
"hgvs_p": null,
"transcript": "XM_047431472.1",
"protein_id": "XP_047287428.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 483,
"cds_start": null,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431472.1"
},
{
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.1345-3329G>A",
"hgvs_p": null,
"transcript": "XM_047431475.1",
"protein_id": "XP_047287431.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 473,
"cds_start": null,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431475.1"
}
],
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"dbsnp": "rs886037652",
"frequency_reference_population": 0.0000021259195,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000212592,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9890948534011841,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.10999999940395355,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.727,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9839,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.46,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.657,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.11,
"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_001031725.6",
"gene_symbol": "DDX59",
"hgnc_id": 25360,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1600G>A",
"hgvs_p": "p.Gly534Arg"
}
],
"clinvar_disease": "Orofaciodigital syndrome V",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Orofaciodigital syndrome V",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}