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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 19-14413109-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=14413109&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 14413109,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_005804.4",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX39A",
"gene_hgnc_id": 17821,
"hgvs_c": "c.112T>C",
"hgvs_p": "p.Tyr38His",
"transcript": "NM_005804.4",
"protein_id": "NP_005795.2",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 427,
"cds_start": 112,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000242776.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005804.4"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX39A",
"gene_hgnc_id": 17821,
"hgvs_c": "c.112T>C",
"hgvs_p": "p.Tyr38His",
"transcript": "ENST00000242776.9",
"protein_id": "ENSP00000242776.3",
"transcript_support_level": 1,
"aa_start": 38,
"aa_end": null,
"aa_length": 427,
"cds_start": 112,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005804.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000242776.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX39A",
"gene_hgnc_id": 17821,
"hgvs_c": "n.112T>C",
"hgvs_p": null,
"transcript": "ENST00000324340.13",
"protein_id": "ENSP00000322749.8",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000324340.13"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX39A",
"gene_hgnc_id": 17821,
"hgvs_c": "n.184T>C",
"hgvs_p": null,
"transcript": "ENST00000589318.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000589318.5"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX39A",
"gene_hgnc_id": 17821,
"hgvs_c": "c.112T>C",
"hgvs_p": "p.Tyr38His",
"transcript": "ENST00000926037.1",
"protein_id": "ENSP00000596096.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 435,
"cds_start": 112,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926037.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX39A",
"gene_hgnc_id": 17821,
"hgvs_c": "c.112T>C",
"hgvs_p": "p.Tyr38His",
"transcript": "ENST00000898540.1",
"protein_id": "ENSP00000568599.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 427,
"cds_start": 112,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898540.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX39A",
"gene_hgnc_id": 17821,
"hgvs_c": "c.112T>C",
"hgvs_p": "p.Tyr38His",
"transcript": "ENST00000926035.1",
"protein_id": "ENSP00000596094.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 427,
"cds_start": 112,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926035.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX39A",
"gene_hgnc_id": 17821,
"hgvs_c": "c.112T>C",
"hgvs_p": "p.Tyr38His",
"transcript": "ENST00000926036.1",
"protein_id": "ENSP00000596095.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 427,
"cds_start": 112,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926036.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX39A",
"gene_hgnc_id": 17821,
"hgvs_c": "c.112T>C",
"hgvs_p": "p.Tyr38His",
"transcript": "ENST00000926039.1",
"protein_id": "ENSP00000596098.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 427,
"cds_start": 112,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926039.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX39A",
"gene_hgnc_id": 17821,
"hgvs_c": "c.112T>C",
"hgvs_p": "p.Tyr38His",
"transcript": "ENST00000950771.1",
"protein_id": "ENSP00000620830.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 427,
"cds_start": 112,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950771.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX39A",
"gene_hgnc_id": 17821,
"hgvs_c": "c.112T>C",
"hgvs_p": "p.Tyr38His",
"transcript": "ENST00000898538.1",
"protein_id": "ENSP00000568597.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 416,
"cds_start": 112,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898538.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX39A",
"gene_hgnc_id": 17821,
"hgvs_c": "c.112T>C",
"hgvs_p": "p.Tyr38His",
"transcript": "ENST00000898539.1",
"protein_id": "ENSP00000568598.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 383,
"cds_start": 112,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898539.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX39A",
"gene_hgnc_id": 17821,
"hgvs_c": "c.112T>C",
"hgvs_p": "p.Tyr38His",
"transcript": "ENST00000926038.1",
"protein_id": "ENSP00000596097.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 326,
"cds_start": 112,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926038.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX39A",
"gene_hgnc_id": 17821,
"hgvs_c": "c.112T>C",
"hgvs_p": "p.Tyr38His",
"transcript": "ENST00000454233.6",
"protein_id": "ENSP00000392929.2",
"transcript_support_level": 3,
"aa_start": 38,
"aa_end": null,
"aa_length": 267,
"cds_start": 112,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000454233.6"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"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": "DDX39A",
"gene_hgnc_id": 17821,
"hgvs_c": "c.112T>C",
"hgvs_p": "p.Tyr38His",
"transcript": "ENST00000589675.5",
"protein_id": "ENSP00000467911.1",
"transcript_support_level": 3,
"aa_start": 38,
"aa_end": null,
"aa_length": 254,
"cds_start": 112,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589675.5"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX39A",
"gene_hgnc_id": 17821,
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"transcript": "ENST00000590315.5",
"protein_id": "ENSP00000467411.1",
"transcript_support_level": 5,
"aa_start": 25,
"aa_end": null,
"aa_length": 187,
"cds_start": 73,
"cds_end": null,
"cds_length": 565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000590315.5"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX39A",
"gene_hgnc_id": 17821,
"hgvs_c": "c.112T>C",
"hgvs_p": "p.Tyr38His",
"transcript": "ENST00000590239.5",
"protein_id": "ENSP00000466810.1",
"transcript_support_level": 4,
"aa_start": 38,
"aa_end": null,
"aa_length": 129,
"cds_start": 112,
"cds_end": null,
"cds_length": 392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000590239.5"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX39A",
"gene_hgnc_id": 17821,
"hgvs_c": "c.112T>C",
"hgvs_p": "p.Tyr38His",
"transcript": "ENST00000586993.5",
"protein_id": "ENSP00000464801.1",
"transcript_support_level": 4,
"aa_start": 38,
"aa_end": null,
"aa_length": 124,
"cds_start": 112,
"cds_end": null,
"cds_length": 375,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000586993.5"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX39A",
"gene_hgnc_id": 17821,
"hgvs_c": "c.112T>C",
"hgvs_p": "p.Tyr38His",
"transcript": "ENST00000591275.5",
"protein_id": "ENSP00000465926.1",
"transcript_support_level": 2,
"aa_start": 38,
"aa_end": null,
"aa_length": 107,
"cds_start": 112,
"cds_end": null,
"cds_length": 325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000591275.5"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"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": "DDX39A",
"gene_hgnc_id": 17821,
"hgvs_c": "c.112T>C",
"hgvs_p": "p.Tyr38His",
"transcript": "ENST00000590696.1",
"protein_id": "ENSP00000467040.1",
"transcript_support_level": 4,
"aa_start": 38,
"aa_end": null,
"aa_length": 91,
"cds_start": 112,
"cds_end": null,
"cds_length": 277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000590696.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX39A",
"gene_hgnc_id": 17821,
"hgvs_c": "c.112T>C",
"hgvs_p": "p.Tyr38His",
"transcript": "XM_011527620.2",
"protein_id": "XP_011525922.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 427,
"cds_start": 112,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527620.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX39A",
"gene_hgnc_id": 17821,
"hgvs_c": "n.188T>C",
"hgvs_p": null,
"transcript": "ENST00000586558.5",
"protein_id": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000586558.5"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
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"feature": "ENST00000588542.5"
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{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
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"exon_count": 10,
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"gene_symbol": "DDX39A",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000588692.5"
},
{
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"protein_coding": false,
"strand": false,
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],
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"exon_count": 4,
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"gene_symbol": "DDX39A",
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"biotype": "retained_intron",
"feature": "ENST00000590260.5"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"feature": "ENST00000592632.5"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 3,
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"gene_symbol": "DDX39A",
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"hgvs_c": "n.188T>C",
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"transcript": "ENST00000593008.1",
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"biotype": "pseudogene",
"feature": "ENST00000593008.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
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"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX39A",
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"hgvs_c": "n.230T>C",
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"transcript": "NR_046366.2",
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"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_046366.2"
}
],
"gene_symbol": "DDX39A",
"gene_hgnc_id": 17821,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5415439009666443,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.315,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8538,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.11,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 8.401,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP2",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_005804.4",
"gene_symbol": "DDX39A",
"hgnc_id": 17821,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.112T>C",
"hgvs_p": "p.Tyr38His"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}