← 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: 1-200644517-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=200644517&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 200644517,
"ref": "T",
"alt": "C",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001031725.6",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.1597A>G",
"hgvs_p": "p.Ile533Val",
"transcript": "NM_001031725.6",
"protein_id": "NP_001026895.2",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 619,
"cds_start": 1597,
"cds_end": null,
"cds_length": 1860,
"cdna_start": 1749,
"cdna_end": null,
"cdna_length": 2229,
"mane_select": "ENST00000331314.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001031725.6"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.1597A>G",
"hgvs_p": "p.Ile533Val",
"transcript": "ENST00000331314.11",
"protein_id": "ENSP00000330460.6",
"transcript_support_level": 1,
"aa_start": 533,
"aa_end": null,
"aa_length": 619,
"cds_start": 1597,
"cds_end": null,
"cds_length": 1860,
"cdna_start": 1749,
"cdna_end": null,
"cdna_length": 2229,
"mane_select": "NM_001031725.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000331314.11"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.1597A>G",
"hgvs_p": "p.Ile533Val",
"transcript": "NM_001349799.3",
"protein_id": "NP_001336728.1",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 619,
"cds_start": 1597,
"cds_end": null,
"cds_length": 1860,
"cdna_start": 1778,
"cdna_end": null,
"cdna_length": 2258,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349799.3"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.1597A>G",
"hgvs_p": "p.Ile533Val",
"transcript": "NM_001349800.3",
"protein_id": "NP_001336729.1",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 619,
"cds_start": 1597,
"cds_end": null,
"cds_length": 1860,
"cdna_start": 1703,
"cdna_end": null,
"cdna_length": 2183,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349800.3"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.1597A>G",
"hgvs_p": "p.Ile533Val",
"transcript": "ENST00000936161.1",
"protein_id": "ENSP00000606220.1",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 619,
"cds_start": 1597,
"cds_end": null,
"cds_length": 1860,
"cdna_start": 2717,
"cdna_end": null,
"cdna_length": 3194,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936161.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.1597A>G",
"hgvs_p": "p.Ile533Val",
"transcript": "ENST00000936162.1",
"protein_id": "ENSP00000606221.1",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 619,
"cds_start": 1597,
"cds_end": null,
"cds_length": 1860,
"cdna_start": 1658,
"cdna_end": null,
"cdna_length": 2137,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936162.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.1597A>G",
"hgvs_p": "p.Ile533Val",
"transcript": "ENST00000958771.1",
"protein_id": "ENSP00000628830.1",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 619,
"cds_start": 1597,
"cds_end": null,
"cds_length": 1860,
"cdna_start": 2361,
"cdna_end": null,
"cdna_length": 2896,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958771.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.1597A>G",
"hgvs_p": "p.Ile533Val",
"transcript": "ENST00000958772.1",
"protein_id": "ENSP00000628831.1",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 619,
"cds_start": 1597,
"cds_end": null,
"cds_length": 1860,
"cdna_start": 2610,
"cdna_end": null,
"cdna_length": 3088,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958772.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.1597A>G",
"hgvs_p": "p.Ile533Val",
"transcript": "ENST00000958776.1",
"protein_id": "ENSP00000628835.1",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 619,
"cds_start": 1597,
"cds_end": null,
"cds_length": 1860,
"cdna_start": 3596,
"cdna_end": null,
"cdna_length": 4070,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958776.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.1597A>G",
"hgvs_p": "p.Ile533Val",
"transcript": "ENST00000958777.1",
"protein_id": "ENSP00000628836.1",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 619,
"cds_start": 1597,
"cds_end": null,
"cds_length": 1860,
"cdna_start": 2389,
"cdna_end": null,
"cdna_length": 2867,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958777.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.1531A>G",
"hgvs_p": "p.Ile511Val",
"transcript": "ENST00000886517.1",
"protein_id": "ENSP00000556576.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 597,
"cds_start": 1531,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 1722,
"cdna_end": null,
"cdna_length": 2202,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886517.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.1531A>G",
"hgvs_p": "p.Ile511Val",
"transcript": "ENST00000958774.1",
"protein_id": "ENSP00000628833.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 597,
"cds_start": 1531,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 2495,
"cdna_end": null,
"cdna_length": 2888,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958774.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.1522A>G",
"hgvs_p": "p.Ile508Val",
"transcript": "ENST00000936159.1",
"protein_id": "ENSP00000606218.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 594,
"cds_start": 1522,
"cds_end": null,
"cds_length": 1785,
"cdna_start": 1709,
"cdna_end": null,
"cdna_length": 2189,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936159.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.1507A>G",
"hgvs_p": "p.Ile503Val",
"transcript": "ENST00000886516.1",
"protein_id": "ENSP00000556575.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 589,
"cds_start": 1507,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 1736,
"cdna_end": null,
"cdna_length": 2216,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886516.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.1468A>G",
"hgvs_p": "p.Ile490Val",
"transcript": "NM_001349801.3",
"protein_id": "NP_001336730.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 576,
"cds_start": 1468,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 1620,
"cdna_end": null,
"cdna_length": 2100,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349801.3"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.1468A>G",
"hgvs_p": "p.Ile490Val",
"transcript": "ENST00000886515.1",
"protein_id": "ENSP00000556574.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 576,
"cds_start": 1468,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 1710,
"cdna_end": null,
"cdna_length": 2191,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886515.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.1393A>G",
"hgvs_p": "p.Ile465Val",
"transcript": "ENST00000958770.1",
"protein_id": "ENSP00000628829.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 551,
"cds_start": 1393,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 1687,
"cdna_end": null,
"cdna_length": 2166,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958770.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.1345A>G",
"hgvs_p": "p.Ile449Val",
"transcript": "NM_001349803.3",
"protein_id": "NP_001336732.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 535,
"cds_start": 1345,
"cds_end": null,
"cds_length": 1608,
"cdna_start": 1497,
"cdna_end": null,
"cdna_length": 1977,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349803.3"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.1345A>G",
"hgvs_p": "p.Ile449Val",
"transcript": "ENST00000886518.1",
"protein_id": "ENSP00000556577.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 535,
"cds_start": 1345,
"cds_end": null,
"cds_length": 1608,
"cdna_start": 1530,
"cdna_end": null,
"cdna_length": 1922,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886518.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.1345A>G",
"hgvs_p": "p.Ile449Val",
"transcript": "ENST00000958778.1",
"protein_id": "ENSP00000628837.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 535,
"cds_start": 1345,
"cds_end": null,
"cds_length": 1608,
"cdna_start": 1737,
"cdna_end": null,
"cdna_length": 2130,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958778.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.1315A>G",
"hgvs_p": "p.Ile439Val",
"transcript": "ENST00000958775.1",
"protein_id": "ENSP00000628834.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 525,
"cds_start": 1315,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 1466,
"cdna_end": null,
"cdna_length": 1858,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958775.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.1255A>G",
"hgvs_p": "p.Ile419Val",
"transcript": "NM_001320182.1",
"protein_id": "NP_001307111.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 505,
"cds_start": 1255,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1266,
"cdna_end": null,
"cdna_length": 1746,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320182.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.1216A>G",
"hgvs_p": "p.Ile406Val",
"transcript": "ENST00000936158.1",
"protein_id": "ENSP00000606217.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 492,
"cds_start": 1216,
"cds_end": null,
"cds_length": 1479,
"cdna_start": 1422,
"cdna_end": null,
"cdna_length": 1899,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936158.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.1192A>G",
"hgvs_p": "p.Ile398Val",
"transcript": "ENST00000958773.1",
"protein_id": "ENSP00000628832.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 484,
"cds_start": 1192,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 1396,
"cdna_end": null,
"cdna_length": 1872,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958773.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.1063A>G",
"hgvs_p": "p.Ile355Val",
"transcript": "NM_001349804.2",
"protein_id": "NP_001336733.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 441,
"cds_start": 1063,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 1215,
"cdna_end": null,
"cdna_length": 1695,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349804.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.1063A>G",
"hgvs_p": "p.Ile355Val",
"transcript": "ENST00000936160.1",
"protein_id": "ENSP00000606219.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 441,
"cds_start": 1063,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 1230,
"cdna_end": null,
"cdna_length": 1708,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936160.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.526A>G",
"hgvs_p": "p.Ile176Val",
"transcript": "ENST00000433235.1",
"protein_id": "ENSP00000409954.1",
"transcript_support_level": 3,
"aa_start": 176,
"aa_end": null,
"aa_length": 223,
"cds_start": 526,
"cds_end": null,
"cds_length": 674,
"cdna_start": 741,
"cdna_end": null,
"cdna_length": 889,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000433235.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.328A>G",
"hgvs_p": "p.Ile110Val",
"transcript": "ENST00000429498.5",
"protein_id": "ENSP00000408662.1",
"transcript_support_level": 3,
"aa_start": 110,
"aa_end": null,
"aa_length": 196,
"cds_start": 328,
"cds_end": null,
"cds_length": 591,
"cdna_start": 329,
"cdna_end": null,
"cdna_length": 725,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000429498.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.1597A>G",
"hgvs_p": "p.Ile533Val",
"transcript": "XM_017002432.3",
"protein_id": "XP_016857921.1",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 619,
"cds_start": 1597,
"cds_end": null,
"cds_length": 1860,
"cdna_start": 3170,
"cdna_end": null,
"cdna_length": 3650,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017002432.3"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.1468A>G",
"hgvs_p": "p.Ile490Val",
"transcript": "XM_047431458.1",
"protein_id": "XP_047287414.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 576,
"cds_start": 1468,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 1884,
"cdna_end": null,
"cdna_length": 2364,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431458.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.1468A>G",
"hgvs_p": "p.Ile490Val",
"transcript": "XM_047431459.1",
"protein_id": "XP_047287415.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 576,
"cds_start": 1468,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 1649,
"cdna_end": null,
"cdna_length": 2129,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431459.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.1345A>G",
"hgvs_p": "p.Ile449Val",
"transcript": "XM_047431466.1",
"protein_id": "XP_047287422.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 535,
"cds_start": 1345,
"cds_end": null,
"cds_length": 1608,
"cdna_start": 1526,
"cdna_end": null,
"cdna_length": 2006,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431466.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.1216A>G",
"hgvs_p": "p.Ile406Val",
"transcript": "XM_047431468.1",
"protein_id": "XP_047287424.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 492,
"cds_start": 1216,
"cds_end": null,
"cds_length": 1479,
"cdna_start": 1368,
"cdna_end": null,
"cdna_length": 1848,
"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+3922A>G",
"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": 2900,
"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.1597-3261A>G",
"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": 2200,
"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.1597-3332A>G",
"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": 2129,
"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.511-3261A>G",
"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": 945,
"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.205-3332A>G",
"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": 580,
"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.1597-3332A>G",
"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": 2158,
"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.1345-3261A>G",
"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": 1948,
"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.1345-3261A>G",
"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": 1977,
"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.1345-3332A>G",
"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": 1877,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431475.1"
}
],
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"dbsnp": "rs910612699",
"frequency_reference_population": 0.000032010736,
"hom_count_reference_population": 1,
"allele_count_reference_population": 50,
"gnomad_exomes_af": 0.0000163146,
"gnomad_genomes_af": 0.0001774,
"gnomad_exomes_ac": 23,
"gnomad_genomes_ac": 27,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.12597763538360596,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.004000000189989805,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.295,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0544,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.398,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.0000586546784107396,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Moderate,BS1",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Moderate",
"BS1"
],
"verdict": "Benign",
"transcript": "NM_001031725.6",
"gene_symbol": "DDX59",
"hgnc_id": 25360,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1597A>G",
"hgvs_p": "p.Ile533Val"
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}