← 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: 17-48051155-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=48051155&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 48051155,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_003204.3",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L1",
"gene_hgnc_id": 7781,
"hgvs_c": "c.37C>T",
"hgvs_p": "p.Leu13Phe",
"transcript": "NM_003204.3",
"protein_id": "NP_003195.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 772,
"cds_start": 37,
"cds_end": null,
"cds_length": 2319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000362042.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003204.3"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L1",
"gene_hgnc_id": 7781,
"hgvs_c": "c.37C>T",
"hgvs_p": "p.Leu13Phe",
"transcript": "ENST00000362042.8",
"protein_id": "ENSP00000354855.3",
"transcript_support_level": 1,
"aa_start": 13,
"aa_end": null,
"aa_length": 772,
"cds_start": 37,
"cds_end": null,
"cds_length": 2319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003204.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000362042.8"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L1",
"gene_hgnc_id": 7781,
"hgvs_c": "c.37C>T",
"hgvs_p": "p.Leu13Phe",
"transcript": "ENST00000357480.9",
"protein_id": "ENSP00000350072.5",
"transcript_support_level": 1,
"aa_start": 13,
"aa_end": null,
"aa_length": 742,
"cds_start": 37,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357480.9"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L1",
"gene_hgnc_id": 7781,
"hgvs_c": "c.37C>T",
"hgvs_p": "p.Leu13Phe",
"transcript": "ENST00000585291.5",
"protein_id": "ENSP00000461960.1",
"transcript_support_level": 1,
"aa_start": 13,
"aa_end": null,
"aa_length": 742,
"cds_start": 37,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000585291.5"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L1",
"gene_hgnc_id": 7781,
"hgvs_c": "c.37C>T",
"hgvs_p": "p.Leu13Phe",
"transcript": "NM_001439152.1",
"protein_id": "NP_001426081.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 772,
"cds_start": 37,
"cds_end": null,
"cds_length": 2319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439152.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L1",
"gene_hgnc_id": 7781,
"hgvs_c": "c.37C>T",
"hgvs_p": "p.Leu13Phe",
"transcript": "ENST00000880072.1",
"protein_id": "ENSP00000550131.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 772,
"cds_start": 37,
"cds_end": null,
"cds_length": 2319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880072.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L1",
"gene_hgnc_id": 7781,
"hgvs_c": "c.37C>T",
"hgvs_p": "p.Leu13Phe",
"transcript": "ENST00000880073.1",
"protein_id": "ENSP00000550132.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 772,
"cds_start": 37,
"cds_end": null,
"cds_length": 2319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880073.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L1",
"gene_hgnc_id": 7781,
"hgvs_c": "c.37C>T",
"hgvs_p": "p.Leu13Phe",
"transcript": "NM_001330261.2",
"protein_id": "NP_001317190.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 761,
"cds_start": 37,
"cds_end": null,
"cds_length": 2286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330261.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L1",
"gene_hgnc_id": 7781,
"hgvs_c": "c.37C>T",
"hgvs_p": "p.Leu13Phe",
"transcript": "NM_001439153.1",
"protein_id": "NP_001426082.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 761,
"cds_start": 37,
"cds_end": null,
"cds_length": 2286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439153.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L1",
"gene_hgnc_id": 7781,
"hgvs_c": "c.37C>T",
"hgvs_p": "p.Leu13Phe",
"transcript": "ENST00000361665.7",
"protein_id": "ENSP00000355190.3",
"transcript_support_level": 5,
"aa_start": 13,
"aa_end": null,
"aa_length": 761,
"cds_start": 37,
"cds_end": null,
"cds_length": 2286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361665.7"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L1",
"gene_hgnc_id": 7781,
"hgvs_c": "c.37C>T",
"hgvs_p": "p.Leu13Phe",
"transcript": "ENST00000880070.1",
"protein_id": "ENSP00000550129.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 761,
"cds_start": 37,
"cds_end": null,
"cds_length": 2286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880070.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L1",
"gene_hgnc_id": 7781,
"hgvs_c": "c.37C>T",
"hgvs_p": "p.Leu13Phe",
"transcript": "NM_001330262.2",
"protein_id": "NP_001317191.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 742,
"cds_start": 37,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330262.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L1",
"gene_hgnc_id": 7781,
"hgvs_c": "c.37C>T",
"hgvs_p": "p.Leu13Phe",
"transcript": "NM_001439154.1",
"protein_id": "NP_001426083.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 742,
"cds_start": 37,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439154.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L1",
"gene_hgnc_id": 7781,
"hgvs_c": "c.37C>T",
"hgvs_p": "p.Leu13Phe",
"transcript": "ENST00000880071.1",
"protein_id": "ENSP00000550130.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 742,
"cds_start": 37,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880071.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L1",
"gene_hgnc_id": 7781,
"hgvs_c": "c.37C>T",
"hgvs_p": "p.Leu13Phe",
"transcript": "ENST00000880075.1",
"protein_id": "ENSP00000550134.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 742,
"cds_start": 37,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880075.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L1",
"gene_hgnc_id": 7781,
"hgvs_c": "c.37C>T",
"hgvs_p": "p.Leu13Phe",
"transcript": "ENST00000937364.1",
"protein_id": "ENSP00000607423.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 742,
"cds_start": 37,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937364.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L1",
"gene_hgnc_id": 7781,
"hgvs_c": "c.37C>T",
"hgvs_p": "p.Leu13Phe",
"transcript": "ENST00000937366.1",
"protein_id": "ENSP00000607425.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 742,
"cds_start": 37,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937366.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L1",
"gene_hgnc_id": 7781,
"hgvs_c": "c.37C>T",
"hgvs_p": "p.Leu13Phe",
"transcript": "NM_001439155.1",
"protein_id": "NP_001426084.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 731,
"cds_start": 37,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439155.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L1",
"gene_hgnc_id": 7781,
"hgvs_c": "c.37C>T",
"hgvs_p": "p.Leu13Phe",
"transcript": "NM_001439156.1",
"protein_id": "NP_001426085.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 731,
"cds_start": 37,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439156.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L1",
"gene_hgnc_id": 7781,
"hgvs_c": "c.37C>T",
"hgvs_p": "p.Leu13Phe",
"transcript": "ENST00000880074.1",
"protein_id": "ENSP00000550133.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 731,
"cds_start": 37,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880074.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L1",
"gene_hgnc_id": 7781,
"hgvs_c": "c.37C>T",
"hgvs_p": "p.Leu13Phe",
"transcript": "ENST00000937365.1",
"protein_id": "ENSP00000607424.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 731,
"cds_start": 37,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937365.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L1",
"gene_hgnc_id": 7781,
"hgvs_c": "c.37C>T",
"hgvs_p": "p.Leu13Phe",
"transcript": "ENST00000585062.1",
"protein_id": "ENSP00000463960.1",
"transcript_support_level": 4,
"aa_start": 13,
"aa_end": null,
"aa_length": 98,
"cds_start": 37,
"cds_end": null,
"cds_length": 298,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000585062.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L1",
"gene_hgnc_id": 7781,
"hgvs_c": "c.37C>T",
"hgvs_p": "p.Leu13Phe",
"transcript": "ENST00000584137.5",
"protein_id": "ENSP00000463657.1",
"transcript_support_level": 4,
"aa_start": 13,
"aa_end": null,
"aa_length": 81,
"cds_start": 37,
"cds_end": null,
"cds_length": 248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000584137.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L1",
"gene_hgnc_id": 7781,
"hgvs_c": "c.*9C>T",
"hgvs_p": null,
"transcript": "ENST00000579889.1",
"protein_id": "ENSP00000462003.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 8,
"cds_start": null,
"cds_end": null,
"cds_length": 28,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000579889.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L1",
"gene_hgnc_id": 7781,
"hgvs_c": "c.*26C>T",
"hgvs_p": null,
"transcript": "ENST00000581441.1",
"protein_id": "ENSP00000462253.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 2,
"cds_start": null,
"cds_end": null,
"cds_length": 11,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000581441.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L1",
"gene_hgnc_id": 7781,
"hgvs_c": "n.*81C>T",
"hgvs_p": null,
"transcript": "ENST00000579481.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000579481.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L1",
"gene_hgnc_id": 7781,
"hgvs_c": "n.*58C>T",
"hgvs_p": null,
"transcript": "ENST00000582574.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000582574.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L1",
"gene_hgnc_id": 7781,
"hgvs_c": "n.*114C>T",
"hgvs_p": null,
"transcript": "ENST00000583060.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000583060.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L1",
"gene_hgnc_id": 7781,
"hgvs_c": "n.*83C>T",
"hgvs_p": null,
"transcript": "ENST00000585299.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000585299.1"
}
],
"gene_symbol": "NFE2L1",
"gene_hgnc_id": 7781,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.30171075463294983,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.3199999928474426,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.162,
"revel_prediction": "Benign",
"alphamissense_score": 0.8633,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.32,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.561,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.32,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_003204.3",
"gene_symbol": "NFE2L1",
"hgnc_id": 7781,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.37C>T",
"hgvs_p": "p.Leu13Phe"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}