← 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: 1-244855504-CAG-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=244855504&ref=CAG&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"effects": [
"frameshift_variant"
],
"gene_symbol": "HNRNPU",
"hgnc_id": 5048,
"hgvs_c": "c.2270_2271delCT",
"hgvs_p": "p.Pro757fs",
"inheritance_mode": "AD",
"pathogenic_score": 18,
"score": 18,
"transcript": "NM_031844.3",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_score": 18,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "1",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Epileptic encephalopathy,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 825,
"aa_ref": "P",
"aa_start": 757,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6867,
"cdna_start": 2507,
"cds_end": null,
"cds_length": 2478,
"cds_start": 2270,
"consequences": [
"frameshift_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_031844.3",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.2270_2271delCT",
"hgvs_p": "p.Pro757fs",
"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": null,
"aa_end": null,
"aa_length": 825,
"aa_ref": "P",
"aa_start": 757,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6867,
"cdna_start": 2507,
"cds_end": null,
"cds_length": 2478,
"cds_start": 2270,
"consequences": [
"frameshift_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000640218.2",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.2270_2271delCT",
"hgvs_p": "p.Pro757fs",
"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": null,
"aa_end": null,
"aa_length": 806,
"aa_ref": "P",
"aa_start": 738,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6827,
"cdna_start": 2467,
"cds_end": null,
"cds_length": 2421,
"cds_start": 2213,
"consequences": [
"frameshift_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000444376.7",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.2213_2214delCT",
"hgvs_p": "p.Pro738fs",
"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": null,
"aa_end": null,
"aa_length": 549,
"aa_ref": "P",
"aa_start": 481,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7674,
"cdna_start": 3314,
"cds_end": null,
"cds_length": 1650,
"cds_start": 1442,
"consequences": [
"frameshift_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000639628.2",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.1442_1443delCT",
"hgvs_p": "p.Pro481fs",
"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": null,
"aa_end": null,
"aa_length": 834,
"aa_ref": "P",
"aa_start": 766,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3527,
"cdna_start": 2533,
"cds_end": null,
"cds_length": 2505,
"cds_start": 2297,
"consequences": [
"frameshift_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000919769.1",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.2297_2298delCT",
"hgvs_p": "p.Pro766fs",
"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": null,
"aa_end": null,
"aa_length": 823,
"aa_ref": "P",
"aa_start": 755,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3502,
"cdna_start": 2503,
"cds_end": null,
"cds_length": 2472,
"cds_start": 2264,
"consequences": [
"frameshift_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000919767.1",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.2264_2265delCT",
"hgvs_p": "p.Pro755fs",
"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": null,
"aa_end": null,
"aa_length": 812,
"aa_ref": "P",
"aa_start": 744,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3464,
"cdna_start": 2465,
"cds_end": null,
"cds_length": 2439,
"cds_start": 2231,
"consequences": [
"frameshift_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000919768.1",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.2231_2232delCT",
"hgvs_p": "p.Pro744fs",
"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": null,
"aa_end": null,
"aa_length": 806,
"aa_ref": "P",
"aa_start": 738,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6789,
"cdna_start": 2432,
"cds_end": null,
"cds_length": 2421,
"cds_start": 2213,
"consequences": [
"frameshift_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_004501.3",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.2213_2214delCT",
"hgvs_p": "p.Pro738fs",
"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": null,
"aa_end": null,
"aa_length": 806,
"aa_ref": "P",
"aa_start": 738,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3659,
"cdna_start": 2393,
"cds_end": null,
"cds_length": 2421,
"cds_start": 2213,
"consequences": [
"frameshift_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000945104.1",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.2213_2214delCT",
"hgvs_p": "p.Pro738fs",
"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": null,
"aa_end": null,
"aa_length": 804,
"aa_ref": "P",
"aa_start": 736,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2968,
"cdna_start": 2444,
"cds_end": null,
"cds_length": 2415,
"cds_start": 2207,
"consequences": [
"frameshift_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000899281.1",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.2207_2208delCT",
"hgvs_p": "p.Pro736fs",
"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": null,
"aa_end": null,
"aa_length": 763,
"aa_ref": "P",
"aa_start": 695,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3529,
"cdna_start": 2261,
"cds_end": null,
"cds_length": 2292,
"cds_start": 2084,
"consequences": [
"frameshift_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000945105.1",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.2084_2085delCT",
"hgvs_p": "p.Pro695fs",
"intron_rank": null,
"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": 761,
"aa_ref": "P",
"aa_start": 693,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2495,
"cdna_start": 2255,
"cds_end": null,
"cds_length": 2286,
"cds_start": 2078,
"consequences": [
"frameshift_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000945106.1",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.2078_2079delCT",
"hgvs_p": "p.Pro693fs",
"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": null,
"aa_end": null,
"aa_length": 744,
"aa_ref": "P",
"aa_start": 676,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3120,
"cdna_start": 2215,
"cds_end": null,
"cds_length": 2235,
"cds_start": 2027,
"consequences": [
"frameshift_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000283179.14",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.2027_2028delCT",
"hgvs_p": "p.Pro676fs",
"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": null,
"aa_end": null,
"aa_length": 737,
"aa_ref": "P",
"aa_start": 669,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2762,
"cdna_start": 2241,
"cds_end": null,
"cds_length": 2214,
"cds_start": 2006,
"consequences": [
"frameshift_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000919770.1",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.2006_2007delCT",
"hgvs_p": "p.Pro669fs",
"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": null,
"aa_end": null,
"aa_length": 728,
"aa_ref": "P",
"aa_start": 660,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2698,
"cdna_start": 1980,
"cds_end": null,
"cds_length": 2187,
"cds_start": 1979,
"consequences": [
"frameshift_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000638475.1",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.1979_1980delCT",
"hgvs_p": "p.Pro660fs",
"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": null,
"aa_end": null,
"aa_length": 718,
"aa_ref": "P",
"aa_start": 650,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2643,
"cdna_start": 2119,
"cds_end": null,
"cds_length": 2157,
"cds_start": 1949,
"consequences": [
"frameshift_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000919771.1",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.1949_1950delCT",
"hgvs_p": "p.Pro650fs",
"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": null,
"aa_end": null,
"aa_length": 602,
"aa_ref": "P",
"aa_start": 534,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3207,
"cdna_start": 1956,
"cds_end": null,
"cds_length": 1809,
"cds_start": 1601,
"consequences": [
"frameshift_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000440865.2",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.1601_1602delCT",
"hgvs_p": "p.Pro534fs",
"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": null,
"aa_end": null,
"aa_length": 547,
"aa_ref": "P",
"aa_start": 479,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2640,
"cdna_start": 1450,
"cds_end": null,
"cds_length": 1644,
"cds_start": 1436,
"consequences": [
"frameshift_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000638716.1",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.1436_1437delCT",
"hgvs_p": "p.Pro479fs",
"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": null,
"aa_end": null,
"aa_length": 546,
"aa_ref": "P",
"aa_start": 481,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4227,
"cdna_start": 3301,
"cds_end": null,
"cds_length": 1641,
"cds_start": 1442,
"consequences": [
"frameshift_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000640001.1",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.1442_1443delCT",
"hgvs_p": "p.Pro481fs",
"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": null,
"aa_end": null,
"aa_length": 399,
"aa_ref": "P",
"aa_start": 331,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2440,
"cdna_start": 1172,
"cds_end": null,
"cds_length": 1200,
"cds_start": 992,
"consequences": [
"frameshift_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000945103.1",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.992_993delCT",
"hgvs_p": "p.Pro331fs",
"intron_rank": null,
"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": 326,
"aa_ref": "P",
"aa_start": 282,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1450,
"cdna_start": 847,
"cds_end": null,
"cds_length": 981,
"cds_start": 845,
"consequences": [
"frameshift_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000639824.1",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.845_846delCT",
"hgvs_p": "p.Pro282fs",
"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": null,
"aa_end": null,
"aa_length": 740,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3428,
"cdna_start": null,
"cds_end": null,
"cds_length": 2223,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000919766.1",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.2051-36_2051-35delCT",
"hgvs_p": null,
"intron_rank": 11,
"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": null,
"aa_end": null,
"aa_length": 735,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3504,
"cdna_start": null,
"cds_end": null,
"cds_length": 2208,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000919765.1",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.2051-51_2051-50delCT",
"hgvs_p": null,
"intron_rank": 11,
"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": null,
"aa_end": null,
"aa_length": 664,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3015,
"cdna_start": null,
"cds_end": null,
"cds_length": 1995,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000704074.1",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.1838-51_1838-50delCT",
"hgvs_p": null,
"intron_rank": 12,
"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": 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": 10,
"exon_rank_end": null,
"feature": "ENST00000366525.8",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "n.1883_1884delCT",
"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": 3,
"exon_rank_end": null,
"feature": "ENST00000468690.2",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "n.3957_3958delCT",
"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": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5290,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000475997.6",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "n.257_258delCT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000482621.2",
"strand": false,
"transcript": "ENST00000475997.6",
"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": 11,
"exon_rank_end": null,
"feature": "ENST00000476241.2",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "n.4384_4385delCT",
"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": 9,
"exon_rank_end": null,
"feature": "ENST00000638230.1",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "n.1379_1380delCT",
"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": 8,
"exon_rank_end": null,
"feature": "ENST00000638301.1",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "n.*556_*557delCT",
"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": 11,
"exon_rank_end": null,
"feature": "ENST00000638952.1",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "n.4487_4488delCT",
"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": 3,
"exon_rank_end": null,
"feature": "ENST00000639064.1",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "n.1325_1326delCT",
"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": 9,
"exon_rank_end": null,
"feature": "ENST00000639880.1",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "n.*1206_*1207delCT",
"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": 12,
"exon_rank_end": null,
"feature": "ENST00000640056.1",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "n.*1206_*1207delCT",
"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": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 328,
"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": "ENST00000640264.1",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "n.92_93delCT",
"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": "ENST00000640264.1",
"transcript_support_level": 3
},
{
"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": 12,
"exon_rank_end": null,
"feature": "ENST00000640306.1",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "n.2213_2214delCT",
"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": 12,
"exon_rank_end": null,
"feature": "ENST00000649899.1",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "n.2437_2438delCT",
"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": 3650,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000638301.1",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "n.*556_*557delCT",
"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": "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": 9,
"exon_rank_end": null,
"feature": "ENST00000639880.1",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "n.*1206_*1207delCT",
"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": 12,
"exon_rank_end": null,
"feature": "ENST00000640056.1",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "n.*1206_*1207delCT",
"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": [
"downstream_gene_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000640119.1",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "n.*334_*335delCT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000491491.1",
"strand": true,
"transcript": "ENST00000640119.1",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs1135401734",
"effect": "frameshift_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": "Pathogenic",
"phenotype_combined": "Epileptic encephalopathy|not provided",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 4.833,
"pos": 244855504,
"ref": "CAG",
"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"
}
]
}