← 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: 2-177231256-GC-TG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=177231256&ref=GC&alt=TG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "NFE2L2",
"hgnc_id": 7782,
"hgvs_c": "c.1346_1347delGCinsCA",
"hgvs_p": "p.Arg449Pro",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_006164.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 605,
"aa_ref": "R",
"aa_start": 449,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2446,
"cdna_start": 1498,
"cds_end": null,
"cds_length": 1818,
"cds_start": 1346,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_006164.5",
"gene_hgnc_id": 7782,
"gene_symbol": "NFE2L2",
"hgvs_c": "c.1346_1347delGCinsCA",
"hgvs_p": "p.Arg449Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000397062.8",
"protein_coding": true,
"protein_id": "NP_006155.2",
"strand": false,
"transcript": "NM_006164.5",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 605,
"aa_ref": "R",
"aa_start": 449,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2446,
"cdna_start": 1498,
"cds_end": null,
"cds_length": 1818,
"cds_start": 1346,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000397062.8",
"gene_hgnc_id": 7782,
"gene_symbol": "NFE2L2",
"hgvs_c": "c.1346_1347delGCinsCA",
"hgvs_p": "p.Arg449Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006164.5",
"protein_coding": true,
"protein_id": "ENSP00000380252.3",
"strand": false,
"transcript": "ENST00000397062.8",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 589,
"aa_ref": "R",
"aa_start": 433,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2992,
"cdna_start": 2041,
"cds_end": null,
"cds_length": 1770,
"cds_start": 1298,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000397063.9",
"gene_hgnc_id": 7782,
"gene_symbol": "NFE2L2",
"hgvs_c": "c.1298_1299delGCinsCA",
"hgvs_p": "p.Arg433Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000380253.4",
"strand": false,
"transcript": "ENST00000397063.9",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 589,
"aa_ref": "R",
"aa_start": 433,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2522,
"cdna_start": 1574,
"cds_end": null,
"cds_length": 1770,
"cds_start": 1298,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000421929.6",
"gene_hgnc_id": 7782,
"gene_symbol": "NFE2L2",
"hgvs_c": "c.1298_1299delGCinsCA",
"hgvs_p": "p.Arg433Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000412191.2",
"strand": false,
"transcript": "ENST00000421929.6",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 589,
"aa_ref": "R",
"aa_start": 433,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2312,
"cdna_start": 1433,
"cds_end": null,
"cds_length": 1770,
"cds_start": 1298,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000448782.6",
"gene_hgnc_id": 7782,
"gene_symbol": "NFE2L2",
"hgvs_c": "c.1298_1299delGCinsCA",
"hgvs_p": "p.Arg433Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000400073.2",
"strand": false,
"transcript": "ENST00000448782.6",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 582,
"aa_ref": "R",
"aa_start": 426,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2399,
"cdna_start": 1451,
"cds_end": null,
"cds_length": 1749,
"cds_start": 1277,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000446151.6",
"gene_hgnc_id": 7782,
"gene_symbol": "NFE2L2",
"hgvs_c": "c.1277_1278delGCinsCA",
"hgvs_p": "p.Arg426Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000411575.2",
"strand": false,
"transcript": "ENST00000446151.6",
"transcript_support_level": 1
},
{
"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": 3325,
"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": "ENST00000423513.6",
"gene_hgnc_id": 7782,
"gene_symbol": "NFE2L2",
"hgvs_c": "n.2485_2486delGCinsCA",
"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": "ENST00000423513.6",
"transcript_support_level": 1
},
{
"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": 3589,
"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": "ENST00000477534.2",
"gene_hgnc_id": 7782,
"gene_symbol": "NFE2L2",
"hgvs_c": "n.2767_2768delGCinsCA",
"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": "ENST00000477534.2",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 651,
"aa_ref": "R",
"aa_start": 495,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2954,
"cdna_start": 2115,
"cds_end": null,
"cds_length": 1956,
"cds_start": 1484,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000699346.1",
"gene_hgnc_id": 7782,
"gene_symbol": "NFE2L2",
"hgvs_c": "c.1484_1485delGCinsCA",
"hgvs_p": "p.Arg495Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514321.1",
"strand": false,
"transcript": "ENST00000699346.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 604,
"aa_ref": "R",
"aa_start": 448,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2536,
"cdna_start": 1588,
"cds_end": null,
"cds_length": 1815,
"cds_start": 1343,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000586532.6",
"gene_hgnc_id": 7782,
"gene_symbol": "NFE2L2",
"hgvs_c": "c.1343_1344delGCinsCA",
"hgvs_p": "p.Arg448Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000464920.2",
"strand": false,
"transcript": "ENST00000586532.6",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 604,
"aa_ref": "R",
"aa_start": 448,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2772,
"cdna_start": 1821,
"cds_end": null,
"cds_length": 1815,
"cds_start": 1343,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000699265.1",
"gene_hgnc_id": 7782,
"gene_symbol": "NFE2L2",
"hgvs_c": "c.1343_1344delGCinsCA",
"hgvs_p": "p.Arg448Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514246.1",
"strand": false,
"transcript": "ENST00000699265.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 604,
"aa_ref": "R",
"aa_start": 448,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3061,
"cdna_start": 2140,
"cds_end": null,
"cds_length": 1815,
"cds_start": 1343,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000699301.1",
"gene_hgnc_id": 7782,
"gene_symbol": "NFE2L2",
"hgvs_c": "c.1343_1344delGCinsCA",
"hgvs_p": "p.Arg448Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514281.1",
"strand": false,
"transcript": "ENST00000699301.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 604,
"aa_ref": "R",
"aa_start": 448,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2779,
"cdna_start": 2040,
"cds_end": null,
"cds_length": 1815,
"cds_start": 1343,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000699303.1",
"gene_hgnc_id": 7782,
"gene_symbol": "NFE2L2",
"hgvs_c": "c.1343_1344delGCinsCA",
"hgvs_p": "p.Arg448Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514283.1",
"strand": false,
"transcript": "ENST00000699303.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 604,
"aa_ref": "R",
"aa_start": 448,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2522,
"cdna_start": 1977,
"cds_end": null,
"cds_length": 1815,
"cds_start": 1343,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000699304.1",
"gene_hgnc_id": 7782,
"gene_symbol": "NFE2L2",
"hgvs_c": "c.1343_1344delGCinsCA",
"hgvs_p": "p.Arg448Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514284.1",
"strand": false,
"transcript": "ENST00000699304.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 604,
"aa_ref": "R",
"aa_start": 448,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2786,
"cdna_start": 1909,
"cds_end": null,
"cds_length": 1815,
"cds_start": 1343,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000699305.1",
"gene_hgnc_id": 7782,
"gene_symbol": "NFE2L2",
"hgvs_c": "c.1343_1344delGCinsCA",
"hgvs_p": "p.Arg448Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514285.1",
"strand": false,
"transcript": "ENST00000699305.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 604,
"aa_ref": "R",
"aa_start": 448,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2907,
"cdna_start": 2089,
"cds_end": null,
"cds_length": 1815,
"cds_start": 1343,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000699331.1",
"gene_hgnc_id": 7782,
"gene_symbol": "NFE2L2",
"hgvs_c": "c.1343_1344delGCinsCA",
"hgvs_p": "p.Arg448Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514305.1",
"strand": false,
"transcript": "ENST00000699331.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 604,
"aa_ref": "R",
"aa_start": 448,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2745,
"cdna_start": 1906,
"cds_end": null,
"cds_length": 1815,
"cds_start": 1343,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000699345.1",
"gene_hgnc_id": 7782,
"gene_symbol": "NFE2L2",
"hgvs_c": "c.1343_1344delGCinsCA",
"hgvs_p": "p.Arg448Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514320.1",
"strand": false,
"transcript": "ENST00000699345.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 604,
"aa_ref": "R",
"aa_start": 448,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2496,
"cdna_start": 1717,
"cds_end": null,
"cds_length": 1815,
"cds_start": 1343,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000699348.1",
"gene_hgnc_id": 7782,
"gene_symbol": "NFE2L2",
"hgvs_c": "c.1343_1344delGCinsCA",
"hgvs_p": "p.Arg448Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514323.1",
"strand": false,
"transcript": "ENST00000699348.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 604,
"aa_ref": "R",
"aa_start": 448,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2511,
"cdna_start": 1772,
"cds_end": null,
"cds_length": 1815,
"cds_start": 1343,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000699350.1",
"gene_hgnc_id": 7782,
"gene_symbol": "NFE2L2",
"hgvs_c": "c.1343_1344delGCinsCA",
"hgvs_p": "p.Arg448Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514324.1",
"strand": false,
"transcript": "ENST00000699350.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 604,
"aa_ref": "R",
"aa_start": 448,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2964,
"cdna_start": 2084,
"cds_end": null,
"cds_length": 1815,
"cds_start": 1343,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000699406.1",
"gene_hgnc_id": 7782,
"gene_symbol": "NFE2L2",
"hgvs_c": "c.1343_1344delGCinsCA",
"hgvs_p": "p.Arg448Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514367.1",
"strand": false,
"transcript": "ENST00000699406.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 604,
"aa_ref": "R",
"aa_start": 448,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2390,
"cdna_start": 1651,
"cds_end": null,
"cds_length": 1815,
"cds_start": 1343,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000699410.1",
"gene_hgnc_id": 7782,
"gene_symbol": "NFE2L2",
"hgvs_c": "c.1343_1344delGCinsCA",
"hgvs_p": "p.Arg448Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514371.1",
"strand": false,
"transcript": "ENST00000699410.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 604,
"aa_ref": "R",
"aa_start": 448,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2741,
"cdna_start": 2038,
"cds_end": null,
"cds_length": 1815,
"cds_start": 1343,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000699435.1",
"gene_hgnc_id": 7782,
"gene_symbol": "NFE2L2",
"hgvs_c": "c.1343_1344delGCinsCA",
"hgvs_p": "p.Arg448Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514387.1",
"strand": false,
"transcript": "ENST00000699435.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 598,
"aa_ref": "R",
"aa_start": 442,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2488,
"cdna_start": 1537,
"cds_end": null,
"cds_length": 1797,
"cds_start": 1325,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000699264.1",
"gene_hgnc_id": 7782,
"gene_symbol": "NFE2L2",
"hgvs_c": "c.1325_1326delGCinsCA",
"hgvs_p": "p.Arg442Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514245.1",
"strand": false,
"transcript": "ENST00000699264.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 592,
"aa_ref": "R",
"aa_start": 436,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2788,
"cdna_start": 1946,
"cds_end": null,
"cds_length": 1779,
"cds_start": 1307,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000699344.1",
"gene_hgnc_id": 7782,
"gene_symbol": "NFE2L2",
"hgvs_c": "c.1307_1308delGCinsCA",
"hgvs_p": "p.Arg436Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514319.1",
"strand": false,
"transcript": "ENST00000699344.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 592,
"aa_ref": "R",
"aa_start": 436,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2520,
"cdna_start": 1791,
"cds_end": null,
"cds_length": 1779,
"cds_start": 1307,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000699411.1",
"gene_hgnc_id": 7782,
"gene_symbol": "NFE2L2",
"hgvs_c": "c.1307_1308delGCinsCA",
"hgvs_p": "p.Arg436Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514372.1",
"strand": false,
"transcript": "ENST00000699411.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 592,
"aa_ref": "R",
"aa_start": 436,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2460,
"cdna_start": 1873,
"cds_end": null,
"cds_length": 1779,
"cds_start": 1307,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000699412.1",
"gene_hgnc_id": 7782,
"gene_symbol": "NFE2L2",
"hgvs_c": "c.1307_1308delGCinsCA",
"hgvs_p": "p.Arg436Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514373.1",
"strand": false,
"transcript": "ENST00000699412.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 589,
"aa_ref": "R",
"aa_start": 433,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2984,
"cdna_start": 2031,
"cds_end": null,
"cds_length": 1770,
"cds_start": 1298,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001145412.3",
"gene_hgnc_id": 7782,
"gene_symbol": "NFE2L2",
"hgvs_c": "c.1298_1299delGCinsCA",
"hgvs_p": "p.Arg433Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001138884.1",
"strand": false,
"transcript": "NM_001145412.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 589,
"aa_ref": "R",
"aa_start": 433,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2858,
"cdna_start": 1905,
"cds_end": null,
"cds_length": 1770,
"cds_start": 1298,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001313900.1",
"gene_hgnc_id": 7782,
"gene_symbol": "NFE2L2",
"hgvs_c": "c.1298_1299delGCinsCA",
"hgvs_p": "p.Arg433Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001300829.1",
"strand": false,
"transcript": "NM_001313900.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 589,
"aa_ref": "R",
"aa_start": 433,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2950,
"cdna_start": 1997,
"cds_end": null,
"cds_length": 1770,
"cds_start": 1298,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001313901.1",
"gene_hgnc_id": 7782,
"gene_symbol": "NFE2L2",
"hgvs_c": "c.1298_1299delGCinsCA",
"hgvs_p": "p.Arg433Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001300830.1",
"strand": false,
"transcript": "NM_001313901.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 589,
"aa_ref": "R",
"aa_start": 433,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2749,
"cdna_start": 1801,
"cds_end": null,
"cds_length": 1770,
"cds_start": 1298,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000464747.5",
"gene_hgnc_id": 7782,
"gene_symbol": "NFE2L2",
"hgvs_c": "c.1298_1299delGCinsCA",
"hgvs_p": "p.Arg433Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000467401.1",
"strand": false,
"transcript": "ENST00000464747.5",
"transcript_support_level": 2
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 589,
"aa_ref": "R",
"aa_start": 433,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3634,
"cdna_start": 2686,
"cds_end": null,
"cds_length": 1770,
"cds_start": 1298,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000699328.1",
"gene_hgnc_id": 7782,
"gene_symbol": "NFE2L2",
"hgvs_c": "c.1298_1299delGCinsCA",
"hgvs_p": "p.Arg433Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514303.1",
"strand": false,
"transcript": "ENST00000699328.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 589,
"aa_ref": "R",
"aa_start": 433,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2847,
"cdna_start": 1963,
"cds_end": null,
"cds_length": 1770,
"cds_start": 1298,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000699330.1",
"gene_hgnc_id": 7782,
"gene_symbol": "NFE2L2",
"hgvs_c": "c.1298_1299delGCinsCA",
"hgvs_p": "p.Arg433Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514304.1",
"strand": false,
"transcript": "ENST00000699330.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 589,
"aa_ref": "R",
"aa_start": 433,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2449,
"cdna_start": 1570,
"cds_end": null,
"cds_length": 1770,
"cds_start": 1298,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000699343.1",
"gene_hgnc_id": 7782,
"gene_symbol": "NFE2L2",
"hgvs_c": "c.1298_1299delGCinsCA",
"hgvs_p": "p.Arg433Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514318.1",
"strand": false,
"transcript": "ENST00000699343.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 589,
"aa_ref": "R",
"aa_start": 433,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2141,
"cdna_start": 1569,
"cds_end": null,
"cds_length": 1770,
"cds_start": 1298,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000699351.1",
"gene_hgnc_id": 7782,
"gene_symbol": "NFE2L2",
"hgvs_c": "c.1298_1299delGCinsCA",
"hgvs_p": "p.Arg433Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514325.1",
"strand": false,
"transcript": "ENST00000699351.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 589,
"aa_ref": "R",
"aa_start": 433,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3035,
"cdna_start": 2156,
"cds_end": null,
"cds_length": 1770,
"cds_start": 1298,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000699408.1",
"gene_hgnc_id": 7782,
"gene_symbol": "NFE2L2",
"hgvs_c": "c.1298_1299delGCinsCA",
"hgvs_p": "p.Arg433Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514369.1",
"strand": false,
"transcript": "ENST00000699408.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 589,
"aa_ref": "R",
"aa_start": 433,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3078,
"cdna_start": 2257,
"cds_end": null,
"cds_length": 1770,
"cds_start": 1298,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000699409.1",
"gene_hgnc_id": 7782,
"gene_symbol": "NFE2L2",
"hgvs_c": "c.1298_1299delGCinsCA",
"hgvs_p": "p.Arg433Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514370.1",
"strand": false,
"transcript": "ENST00000699409.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 589,
"aa_ref": "R",
"aa_start": 433,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2912,
"cdna_start": 1982,
"cds_end": null,
"cds_length": 1770,
"cds_start": 1298,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000699434.1",
"gene_hgnc_id": 7782,
"gene_symbol": "NFE2L2",
"hgvs_c": "c.1298_1299delGCinsCA",
"hgvs_p": "p.Arg433Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514386.1",
"strand": false,
"transcript": "ENST00000699434.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 582,
"aa_ref": "R",
"aa_start": 426,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2963,
"cdna_start": 2010,
"cds_end": null,
"cds_length": 1749,
"cds_start": 1277,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001145413.3",
"gene_hgnc_id": 7782,
"gene_symbol": "NFE2L2",
"hgvs_c": "c.1277_1278delGCinsCA",
"hgvs_p": "p.Arg426Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001138885.1",
"strand": false,
"transcript": "NM_001145413.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 575,
"aa_ref": "R",
"aa_start": 419,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2356,
"cdna_start": 1408,
"cds_end": null,
"cds_length": 1728,
"cds_start": 1256,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001313902.2",
"gene_hgnc_id": 7782,
"gene_symbol": "NFE2L2",
"hgvs_c": "c.1256_1257delGCinsCA",
"hgvs_p": "p.Arg419Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001300831.1",
"strand": false,
"transcript": "NM_001313902.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 575,
"aa_ref": "R",
"aa_start": 419,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2324,
"cdna_start": 1376,
"cds_end": null,
"cds_length": 1728,
"cds_start": 1256,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000699300.1",
"gene_hgnc_id": 7782,
"gene_symbol": "NFE2L2",
"hgvs_c": "c.1256_1257delGCinsCA",
"hgvs_p": "p.Arg419Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514280.1",
"strand": false,
"transcript": "ENST00000699300.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 568,
"aa_ref": "R",
"aa_start": 412,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2342,
"cdna_start": 1398,
"cds_end": null,
"cds_length": 1707,
"cds_start": 1235,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000950353.1",
"gene_hgnc_id": 7782,
"gene_symbol": "NFE2L2",
"hgvs_c": "c.1235_1236delGCinsCA",
"hgvs_p": "p.Arg412Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620412.1",
"strand": false,
"transcript": "ENST00000950353.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 562,
"aa_ref": "R",
"aa_start": 406,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2109,
"cdna_start": 1370,
"cds_end": null,
"cds_length": 1689,
"cds_start": 1217,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000699302.1",
"gene_hgnc_id": 7782,
"gene_symbol": "NFE2L2",
"hgvs_c": "c.1217_1218delGCinsCA",
"hgvs_p": "p.Arg406Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514282.1",
"strand": false,
"transcript": "ENST00000699302.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 559,
"aa_ref": "R",
"aa_start": 403,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2177,
"cdna_start": 1298,
"cds_end": null,
"cds_length": 1680,
"cds_start": 1208,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000699407.1",
"gene_hgnc_id": 7782,
"gene_symbol": "NFE2L2",
"hgvs_c": "c.1208_1209delGCinsCA",
"hgvs_p": "p.Arg403Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514368.1",
"strand": false,
"transcript": "ENST00000699407.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 541,
"aa_ref": "R",
"aa_start": 385,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2249,
"cdna_start": 1306,
"cds_end": null,
"cds_length": 1626,
"cds_start": 1154,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000894418.1",
"gene_hgnc_id": 7782,
"gene_symbol": "NFE2L2",
"hgvs_c": "c.1154_1155delGCinsCA",
"hgvs_p": "p.Arg385Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564477.1",
"strand": false,
"transcript": "ENST00000894418.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 532,
"aa_ref": "R",
"aa_start": 376,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2227,
"cdna_start": 1279,
"cds_end": null,
"cds_length": 1599,
"cds_start": 1127,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001313903.2",
"gene_hgnc_id": 7782,
"gene_symbol": "NFE2L2",
"hgvs_c": "c.1127_1128delGCinsCA",
"hgvs_p": "p.Arg376Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001300832.1",
"strand": false,
"transcript": "NM_001313903.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 532,
"aa_ref": "R",
"aa_start": 376,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2227,
"cdna_start": 1279,
"cds_end": null,
"cds_length": 1599,
"cds_start": 1127,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000699223.1",
"gene_hgnc_id": 7782,
"gene_symbol": "NFE2L2",
"hgvs_c": "c.1127_1128delGCinsCA",
"hgvs_p": "p.Arg376Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514217.1",
"strand": false,
"transcript": "ENST00000699223.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 505,
"aa_ref": "R",
"aa_start": 349,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2913,
"cdna_start": 1960,
"cds_end": null,
"cds_length": 1518,
"cds_start": 1046,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001313904.1",
"gene_hgnc_id": 7782,
"gene_symbol": "NFE2L2",
"hgvs_c": "c.1046_1047delGCinsCA",
"hgvs_p": "p.Arg349Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001300833.1",
"strand": false,
"transcript": "NM_001313904.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 215,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2643,
"cdna_start": null,
"cds_end": null,
"cds_length": 648,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000699307.1",
"gene_hgnc_id": 7782,
"gene_symbol": "NFE2L2",
"hgvs_c": "c.*1081_*1082delGCinsCA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514286.1",
"strand": false,
"transcript": "ENST00000699307.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 207,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2433,
"cdna_start": null,
"cds_end": null,
"cds_length": 624,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000699224.1",
"gene_hgnc_id": 7782,
"gene_symbol": "NFE2L2",
"hgvs_c": "c.*744_*745delGCinsCA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514218.1",
"strand": false,
"transcript": "ENST00000699224.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 199,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2639,
"cdna_start": null,
"cds_end": null,
"cds_length": 600,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000699347.1",
"gene_hgnc_id": 7782,
"gene_symbol": "NFE2L2",
"hgvs_c": "c.*1081_*1082delGCinsCA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514322.1",
"strand": false,
"transcript": "ENST00000699347.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 191,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2413,
"cdna_start": null,
"cds_end": null,
"cds_length": 576,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000699298.1",
"gene_hgnc_id": 7782,
"gene_symbol": "NFE2L2",
"hgvs_c": "c.*744_*745delGCinsCA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514278.1",
"strand": false,
"transcript": "ENST00000699298.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 278,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3182,
"cdna_start": null,
"cds_end": null,
"cds_length": 837,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000699342.1",
"gene_hgnc_id": 7782,
"gene_symbol": "NFE2L2",
"hgvs_c": "c.714+632_714+633delGCinsCA",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514317.1",
"strand": false,
"transcript": "ENST00000699342.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 277,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2080,
"cdna_start": null,
"cds_end": null,
"cds_length": 834,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000699404.1",
"gene_hgnc_id": 7782,
"gene_symbol": "NFE2L2",
"hgvs_c": "c.711+632_711+633delGCinsCA",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514365.1",
"strand": false,
"transcript": "ENST00000699404.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 275,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2084,
"cdna_start": null,
"cds_end": null,
"cds_length": 828,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000699405.1",
"gene_hgnc_id": 7782,
"gene_symbol": "NFE2L2",
"hgvs_c": "c.714+632_714+633delGCinsCA",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514366.1",
"strand": false,
"transcript": "ENST00000699405.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 264,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1315,
"cdna_start": null,
"cds_end": null,
"cds_length": 795,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000699431.1",
"gene_hgnc_id": 7782,
"gene_symbol": "NFE2L2",
"hgvs_c": "c.666+632_666+633delGCinsCA",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514384.1",
"strand": false,
"transcript": "ENST00000699431.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 238,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4165,
"cdna_start": null,
"cds_end": null,
"cds_length": 717,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000699296.1",
"gene_hgnc_id": 7782,
"gene_symbol": "NFE2L2",
"hgvs_c": "c.594+1135_594+1136delGCinsCA",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514276.1",
"strand": false,
"transcript": "ENST00000699296.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 235,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2040,
"cdna_start": null,
"cds_end": null,
"cds_length": 708,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000699220.1",
"gene_hgnc_id": 7782,
"gene_symbol": "NFE2L2",
"hgvs_c": "c.594+1135_594+1136delGCinsCA",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514214.1",
"strand": false,
"transcript": "ENST00000699220.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 219,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4111,
"cdna_start": null,
"cds_end": null,
"cds_length": 660,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000699297.1",
"gene_hgnc_id": 7782,
"gene_symbol": "NFE2L2",
"hgvs_c": "c.546+1135_546+1136delGCinsCA",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514277.1",
"strand": false,
"transcript": "ENST00000699297.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 197,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1325,
"cdna_start": null,
"cds_end": null,
"cds_length": 594,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000458603.2",
"gene_hgnc_id": 7782,
"gene_symbol": "NFE2L2",
"hgvs_c": "c.546+1135_546+1136delGCinsCA",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000416308.2",
"strand": false,
"transcript": "ENST00000458603.2",
"transcript_support_level": 3
},
{
"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": 3653,
"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": "ENST00000462023.2",
"gene_hgnc_id": 7782,
"gene_symbol": "NFE2L2",
"hgvs_c": "n.2832_2833delGCinsCA",
"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": "ENST00000462023.2",
"transcript_support_level": 2
},
{
"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": 2214,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000699299.1",
"gene_hgnc_id": 7782,
"gene_symbol": "NFE2L2",
"hgvs_c": "n.*996_*997delGCinsCA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000514279.1",
"strand": false,
"transcript": "ENST00000699299.1",
"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": 2930,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000699306.1",
"gene_hgnc_id": 7782,
"gene_symbol": "NFE2L2",
"hgvs_c": "n.2116_2117delGCinsCA",
"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": "ENST00000699306.1",
"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": 5104,
"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": "ENST00000699329.1",
"gene_hgnc_id": 7782,
"gene_symbol": "NFE2L2",
"hgvs_c": "n.4155_4156delGCinsCA",
"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": "ENST00000699329.1",
"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": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000699332.1",
"gene_hgnc_id": 7782,
"gene_symbol": "NFE2L2",
"hgvs_c": "n.2084_2085delGCinsCA",
"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": "ENST00000699332.1",
"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": 3301,
"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": "ENST00000699349.1",
"gene_hgnc_id": 7782,
"gene_symbol": "NFE2L2",
"hgvs_c": "n.2535_2536delGCinsCA",
"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": "ENST00000699349.1",
"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": 3043,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000699433.1",
"gene_hgnc_id": 7782,
"gene_symbol": "NFE2L2",
"hgvs_c": "n.2094_2095delGCinsCA",
"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": "ENST00000699433.1",
"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": 2214,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000699299.1",
"gene_hgnc_id": 7782,
"gene_symbol": "NFE2L2",
"hgvs_c": "n.*996_*997delGCinsCA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000514279.1",
"strand": false,
"transcript": "ENST00000699299.1",
"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": 956,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000699327.1",
"gene_hgnc_id": 7782,
"gene_symbol": "NFE2L2",
"hgvs_c": "n.549+1135_549+1136delGCinsCA",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000514302.1",
"strand": false,
"transcript": "ENST00000699327.1",
"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": 1313,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000699432.1",
"gene_hgnc_id": 7782,
"gene_symbol": "NFE2L2",
"hgvs_c": "n.549+1135_549+1136delGCinsCA",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000514385.1",
"strand": false,
"transcript": "ENST00000699432.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 7782,
"gene_symbol": "NFE2L2",
"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": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 3.114,
"pos": 177231256,
"ref": "GC",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_006164.5"
}
]
}