← 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: 6-158784657-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=158784657&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 158784657,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_003379.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZR",
"gene_hgnc_id": 12691,
"hgvs_c": "c.538C>T",
"hgvs_p": "p.Arg180Cys",
"transcript": "NM_001111077.2",
"protein_id": "NP_001104547.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 586,
"cds_start": 538,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000367075.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001111077.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZR",
"gene_hgnc_id": 12691,
"hgvs_c": "c.538C>T",
"hgvs_p": "p.Arg180Cys",
"transcript": "ENST00000367075.4",
"protein_id": "ENSP00000356042.3",
"transcript_support_level": 1,
"aa_start": 180,
"aa_end": null,
"aa_length": 586,
"cds_start": 538,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001111077.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367075.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZR",
"gene_hgnc_id": 12691,
"hgvs_c": "c.538C>T",
"hgvs_p": "p.Arg180Cys",
"transcript": "ENST00000337147.11",
"protein_id": "ENSP00000338934.7",
"transcript_support_level": 1,
"aa_start": 180,
"aa_end": null,
"aa_length": 586,
"cds_start": 538,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000337147.11"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZR",
"gene_hgnc_id": 12691,
"hgvs_c": "c.676C>T",
"hgvs_p": "p.Arg226Cys",
"transcript": "ENST00000852607.1",
"protein_id": "ENSP00000522666.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 632,
"cds_start": 676,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852607.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZR",
"gene_hgnc_id": 12691,
"hgvs_c": "c.676C>T",
"hgvs_p": "p.Arg226Cys",
"transcript": "ENST00000852609.1",
"protein_id": "ENSP00000522668.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 632,
"cds_start": 676,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852609.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZR",
"gene_hgnc_id": 12691,
"hgvs_c": "c.538C>T",
"hgvs_p": "p.Arg180Cys",
"transcript": "ENST00000852613.1",
"protein_id": "ENSP00000522672.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 611,
"cds_start": 538,
"cds_end": null,
"cds_length": 1836,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852613.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZR",
"gene_hgnc_id": 12691,
"hgvs_c": "c.538C>T",
"hgvs_p": "p.Arg180Cys",
"transcript": "ENST00000923503.1",
"protein_id": "ENSP00000593562.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 611,
"cds_start": 538,
"cds_end": null,
"cds_length": 1836,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923503.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZR",
"gene_hgnc_id": 12691,
"hgvs_c": "c.538C>T",
"hgvs_p": "p.Arg180Cys",
"transcript": "ENST00000945664.1",
"protein_id": "ENSP00000615723.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 599,
"cds_start": 538,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945664.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZR",
"gene_hgnc_id": 12691,
"hgvs_c": "c.538C>T",
"hgvs_p": "p.Arg180Cys",
"transcript": "NM_003379.5",
"protein_id": "NP_003370.2",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 586,
"cds_start": 538,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003379.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZR",
"gene_hgnc_id": 12691,
"hgvs_c": "c.538C>T",
"hgvs_p": "p.Arg180Cys",
"transcript": "ENST00000852605.1",
"protein_id": "ENSP00000522664.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 586,
"cds_start": 538,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852605.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZR",
"gene_hgnc_id": 12691,
"hgvs_c": "c.538C>T",
"hgvs_p": "p.Arg180Cys",
"transcript": "ENST00000852606.1",
"protein_id": "ENSP00000522665.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 586,
"cds_start": 538,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852606.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZR",
"gene_hgnc_id": 12691,
"hgvs_c": "c.538C>T",
"hgvs_p": "p.Arg180Cys",
"transcript": "ENST00000923500.1",
"protein_id": "ENSP00000593559.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 586,
"cds_start": 538,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923500.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZR",
"gene_hgnc_id": 12691,
"hgvs_c": "c.538C>T",
"hgvs_p": "p.Arg180Cys",
"transcript": "ENST00000923502.1",
"protein_id": "ENSP00000593561.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 586,
"cds_start": 538,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923502.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZR",
"gene_hgnc_id": 12691,
"hgvs_c": "c.529C>T",
"hgvs_p": "p.Arg177Cys",
"transcript": "ENST00000852603.1",
"protein_id": "ENSP00000522662.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 583,
"cds_start": 529,
"cds_end": null,
"cds_length": 1752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852603.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZR",
"gene_hgnc_id": 12691,
"hgvs_c": "c.454C>T",
"hgvs_p": "p.Arg152Cys",
"transcript": "ENST00000852614.1",
"protein_id": "ENSP00000522673.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 558,
"cds_start": 454,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852614.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZR",
"gene_hgnc_id": 12691,
"hgvs_c": "c.454C>T",
"hgvs_p": "p.Arg152Cys",
"transcript": "ENST00000923506.1",
"protein_id": "ENSP00000593565.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 558,
"cds_start": 454,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923506.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZR",
"gene_hgnc_id": 12691,
"hgvs_c": "c.442C>T",
"hgvs_p": "p.Arg148Cys",
"transcript": "ENST00000852604.1",
"protein_id": "ENSP00000522663.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 554,
"cds_start": 442,
"cds_end": null,
"cds_length": 1665,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852604.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZR",
"gene_hgnc_id": 12691,
"hgvs_c": "c.442C>T",
"hgvs_p": "p.Arg148Cys",
"transcript": "ENST00000852610.1",
"protein_id": "ENSP00000522669.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 554,
"cds_start": 442,
"cds_end": null,
"cds_length": 1665,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852610.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZR",
"gene_hgnc_id": 12691,
"hgvs_c": "c.538C>T",
"hgvs_p": "p.Arg180Cys",
"transcript": "ENST00000852612.1",
"protein_id": "ENSP00000522671.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 537,
"cds_start": 538,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852612.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZR",
"gene_hgnc_id": 12691,
"hgvs_c": "c.538C>T",
"hgvs_p": "p.Arg180Cys",
"transcript": "ENST00000945663.1",
"protein_id": "ENSP00000615722.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 537,
"cds_start": 538,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945663.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZR",
"gene_hgnc_id": 12691,
"hgvs_c": "c.538C>T",
"hgvs_p": "p.Arg180Cys",
"transcript": "ENST00000852608.1",
"protein_id": "ENSP00000522667.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 507,
"cds_start": 538,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852608.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZR",
"gene_hgnc_id": 12691,
"hgvs_c": "c.538C>T",
"hgvs_p": "p.Arg180Cys",
"transcript": "ENST00000923501.1",
"protein_id": "ENSP00000593560.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 507,
"cds_start": 538,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923501.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZR",
"gene_hgnc_id": 12691,
"hgvs_c": "c.538C>T",
"hgvs_p": "p.Arg180Cys",
"transcript": "ENST00000923504.1",
"protein_id": "ENSP00000593563.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 502,
"cds_start": 538,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923504.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZR",
"gene_hgnc_id": 12691,
"hgvs_c": "c.442C>T",
"hgvs_p": "p.Arg148Cys",
"transcript": "ENST00000945665.1",
"protein_id": "ENSP00000615724.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 470,
"cds_start": 442,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945665.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZR",
"gene_hgnc_id": 12691,
"hgvs_c": "c.538C>T",
"hgvs_p": "p.Arg180Cys",
"transcript": "ENST00000923505.1",
"protein_id": "ENSP00000593564.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 354,
"cds_start": 538,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923505.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZR",
"gene_hgnc_id": 12691,
"hgvs_c": "c.130C>T",
"hgvs_p": "p.Arg44Cys",
"transcript": "XM_011536110.2",
"protein_id": "XP_011534412.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 450,
"cds_start": 130,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011536110.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "EZR",
"gene_hgnc_id": 12691,
"hgvs_c": "c.96+4631C>T",
"hgvs_p": null,
"transcript": "ENST00000852611.1",
"protein_id": "ENSP00000522670.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 353,
"cds_start": null,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852611.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "EZR",
"gene_hgnc_id": 12691,
"hgvs_c": "c.13-13250C>T",
"hgvs_p": null,
"transcript": "ENST00000945662.1",
"protein_id": "ENSP00000615721.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 325,
"cds_start": null,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945662.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZR",
"gene_hgnc_id": 12691,
"hgvs_c": "n.810C>T",
"hgvs_p": null,
"transcript": "ENST00000476189.1",
"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": "ENST00000476189.1"
}
],
"gene_symbol": "EZR",
"gene_hgnc_id": 12691,
"dbsnp": "rs3103004",
"frequency_reference_population": 0.00049752847,
"hom_count_reference_population": 0,
"allele_count_reference_population": 803,
"gnomad_exomes_af": 0.000495279,
"gnomad_genomes_af": 0.000519136,
"gnomad_exomes_ac": 724,
"gnomad_genomes_ac": 79,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.22374552488327026,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.15000000596046448,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.383,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0987,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.17,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.236,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.15,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_003379.5",
"gene_symbol": "EZR",
"hgnc_id": 12691,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.538C>T",
"hgvs_p": "p.Arg180Cys"
}
],
"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
}