← 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: 1-244856761-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=244856761&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "HNRNPU",
"hgnc_id": 5048,
"hgvs_c": "c.1710T>C",
"hgvs_p": "p.Ala570Ala",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": -3,
"transcript": "NM_031844.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP6_Moderate,BP7",
"acmg_score": -3,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.42,
"chr": "1",
"clinvar_classification": "Likely benign",
"clinvar_disease": " 54, human,Developmental and epileptic encephalopathy,heterogeneous nuclear ribonucleoprotein G",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.41999998688697815,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 825,
"aa_ref": "A",
"aa_start": 570,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6867,
"cdna_start": 1946,
"cds_end": null,
"cds_length": 2478,
"cds_start": 1710,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_031844.3",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.1710T>C",
"hgvs_p": "p.Ala570Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000640218.2",
"protein_coding": true,
"protein_id": "NP_114032.2",
"strand": false,
"transcript": "NM_031844.3",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 825,
"aa_ref": "A",
"aa_start": 570,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6867,
"cdna_start": 1946,
"cds_end": null,
"cds_length": 2478,
"cds_start": 1710,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000640218.2",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.1710T>C",
"hgvs_p": "p.Ala570Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_031844.3",
"protein_coding": true,
"protein_id": "ENSP00000491215.1",
"strand": false,
"transcript": "ENST00000640218.2",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 806,
"aa_ref": "A",
"aa_start": 551,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6827,
"cdna_start": 1906,
"cds_end": null,
"cds_length": 2421,
"cds_start": 1653,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000444376.7",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.1653T>C",
"hgvs_p": "p.Ala551Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000393151.2",
"strand": false,
"transcript": "ENST00000444376.7",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 549,
"aa_ref": "A",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7674,
"cdna_start": 2753,
"cds_end": null,
"cds_length": 1650,
"cds_start": 882,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000639628.2",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.882T>C",
"hgvs_p": "p.Ala294Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000491340.1",
"strand": false,
"transcript": "ENST00000639628.2",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 834,
"aa_ref": "A",
"aa_start": 579,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3527,
"cdna_start": 1972,
"cds_end": null,
"cds_length": 2505,
"cds_start": 1737,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000919769.1",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.1737T>C",
"hgvs_p": "p.Ala579Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589828.1",
"strand": false,
"transcript": "ENST00000919769.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 823,
"aa_ref": "A",
"aa_start": 568,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3502,
"cdna_start": 1942,
"cds_end": null,
"cds_length": 2472,
"cds_start": 1704,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000919767.1",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.1704T>C",
"hgvs_p": "p.Ala568Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589826.1",
"strand": false,
"transcript": "ENST00000919767.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 812,
"aa_ref": "A",
"aa_start": 557,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3464,
"cdna_start": 1904,
"cds_end": null,
"cds_length": 2439,
"cds_start": 1671,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000919768.1",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.1671T>C",
"hgvs_p": "p.Ala557Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589827.1",
"strand": false,
"transcript": "ENST00000919768.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 806,
"aa_ref": "A",
"aa_start": 551,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6789,
"cdna_start": 1871,
"cds_end": null,
"cds_length": 2421,
"cds_start": 1653,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_004501.3",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.1653T>C",
"hgvs_p": "p.Ala551Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_004492.2",
"strand": false,
"transcript": "NM_004501.3",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 806,
"aa_ref": "A",
"aa_start": 551,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3659,
"cdna_start": 1832,
"cds_end": null,
"cds_length": 2421,
"cds_start": 1653,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000945104.1",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.1653T>C",
"hgvs_p": "p.Ala551Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615163.1",
"strand": false,
"transcript": "ENST00000945104.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 804,
"aa_ref": "A",
"aa_start": 549,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2968,
"cdna_start": 1883,
"cds_end": null,
"cds_length": 2415,
"cds_start": 1647,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000899281.1",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.1647T>C",
"hgvs_p": "p.Ala549Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569340.1",
"strand": false,
"transcript": "ENST00000899281.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 761,
"aa_ref": "A",
"aa_start": 506,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2495,
"cdna_start": 1694,
"cds_end": null,
"cds_length": 2286,
"cds_start": 1518,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000945106.1",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.1518T>C",
"hgvs_p": "p.Ala506Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615165.1",
"strand": false,
"transcript": "ENST00000945106.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 744,
"aa_ref": "A",
"aa_start": 489,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3120,
"cdna_start": 1654,
"cds_end": null,
"cds_length": 2235,
"cds_start": 1467,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000283179.14",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.1467T>C",
"hgvs_p": "p.Ala489Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000283179.10",
"strand": false,
"transcript": "ENST00000283179.14",
"transcript_support_level": 5
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 740,
"aa_ref": "A",
"aa_start": 551,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3428,
"cdna_start": 1798,
"cds_end": null,
"cds_length": 2223,
"cds_start": 1653,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000919766.1",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.1653T>C",
"hgvs_p": "p.Ala551Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589825.1",
"strand": false,
"transcript": "ENST00000919766.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 737,
"aa_ref": "A",
"aa_start": 482,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2762,
"cdna_start": 1680,
"cds_end": null,
"cds_length": 2214,
"cds_start": 1446,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000919770.1",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.1446T>C",
"hgvs_p": "p.Ala482Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589829.1",
"strand": false,
"transcript": "ENST00000919770.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 735,
"aa_ref": "A",
"aa_start": 551,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3504,
"cdna_start": 1889,
"cds_end": null,
"cds_length": 2208,
"cds_start": 1653,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000919765.1",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.1653T>C",
"hgvs_p": "p.Ala551Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589824.1",
"strand": false,
"transcript": "ENST00000919765.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 728,
"aa_ref": "A",
"aa_start": 473,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2698,
"cdna_start": 1419,
"cds_end": null,
"cds_length": 2187,
"cds_start": 1419,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000638475.1",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.1419T>C",
"hgvs_p": "p.Ala473Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000491305.1",
"strand": false,
"transcript": "ENST00000638475.1",
"transcript_support_level": 5
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 718,
"aa_ref": "A",
"aa_start": 463,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2643,
"cdna_start": 1558,
"cds_end": null,
"cds_length": 2157,
"cds_start": 1389,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000919771.1",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.1389T>C",
"hgvs_p": "p.Ala463Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589830.1",
"strand": false,
"transcript": "ENST00000919771.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 664,
"aa_ref": "A",
"aa_start": 443,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3015,
"cdna_start": 1331,
"cds_end": null,
"cds_length": 1995,
"cds_start": 1329,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000704074.1",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.1329T>C",
"hgvs_p": "p.Ala443Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000515674.1",
"strand": false,
"transcript": "ENST00000704074.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 602,
"aa_ref": "A",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3207,
"cdna_start": 1395,
"cds_end": null,
"cds_length": 1809,
"cds_start": 1041,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000440865.2",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.1041T>C",
"hgvs_p": "p.Ala347Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000410728.2",
"strand": false,
"transcript": "ENST00000440865.2",
"transcript_support_level": 2
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 547,
"aa_ref": "A",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2640,
"cdna_start": 889,
"cds_end": null,
"cds_length": 1644,
"cds_start": 876,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000638716.1",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.876T>C",
"hgvs_p": "p.Ala292Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000491601.1",
"strand": false,
"transcript": "ENST00000638716.1",
"transcript_support_level": 5
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 546,
"aa_ref": "A",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4227,
"cdna_start": 2740,
"cds_end": null,
"cds_length": 1641,
"cds_start": 882,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000640001.1",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.882T>C",
"hgvs_p": "p.Ala294Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000491294.1",
"strand": false,
"transcript": "ENST00000640001.1",
"transcript_support_level": 5
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 326,
"aa_ref": "A",
"aa_start": 95,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1450,
"cdna_start": 286,
"cds_end": null,
"cds_length": 981,
"cds_start": 285,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000639824.1",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.285T>C",
"hgvs_p": "p.Ala95Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000491903.1",
"strand": false,
"transcript": "ENST00000639824.1",
"transcript_support_level": 5
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 302,
"aa_ref": "A",
"aa_start": 231,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1069,
"cdna_start": 693,
"cds_end": null,
"cds_length": 909,
"cds_start": 693,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000483966.3",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.693T>C",
"hgvs_p": "p.Ala231Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000492573.1",
"strand": false,
"transcript": "ENST00000483966.3",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 763,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3529,
"cdna_start": null,
"cds_end": null,
"cds_length": 2292,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000945105.1",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.1558-136T>C",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615164.1",
"strand": false,
"transcript": "ENST00000945105.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 399,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2440,
"cdna_start": null,
"cds_end": null,
"cds_length": 1200,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000945103.1",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.635-603T>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615162.1",
"strand": false,
"transcript": "ENST00000945103.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2851,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000366525.8",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "n.1323T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000366525.8",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 5273,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000468690.2",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "n.2804T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000468690.2",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 4844,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000476241.2",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "n.3824T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000476241.2",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1922,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000638230.1",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "n.819T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000492010.1",
"strand": false,
"transcript": "ENST00000638230.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3650,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000638301.1",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "n.882T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000491807.1",
"strand": false,
"transcript": "ENST00000638301.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 5678,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000638952.1",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "n.3927T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000638952.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2625,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000639064.1",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "n.467T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000639064.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4239,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000639880.1",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "n.*646T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000490988.1",
"strand": false,
"transcript": "ENST00000639880.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2045,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000640056.1",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "n.*646T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000492620.1",
"strand": false,
"transcript": "ENST00000640056.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 461,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000640119.1",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "n.90T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000491491.1",
"strand": false,
"transcript": "ENST00000640119.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2917,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 17,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000640306.1",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "n.1653T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000491685.1",
"strand": false,
"transcript": "ENST00000640306.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 13084,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000649899.1",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "n.1877T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000649899.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4239,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000639880.1",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "n.*646T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000490988.1",
"strand": false,
"transcript": "ENST00000639880.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2045,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000640056.1",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "n.*646T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000492620.1",
"strand": false,
"transcript": "ENST00000640056.1",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs1553282382",
"effect": "synonymous_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Likely benign",
"phenotype_combined": "heterogeneous nuclear ribonucleoprotein G, human|Developmental and epileptic encephalopathy, 54",
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.13,
"pos": 244856761,
"ref": "A",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_031844.3"
}
]
}