← 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: 11-721320-GC-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=721320&ref=GC&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 721320,
"ref": "GC",
"alt": "G",
"effect": "frameshift_variant",
"transcript": "NM_022772.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L2",
"gene_hgnc_id": 21296,
"hgvs_c": "c.738delC",
"hgvs_p": "p.Val247fs",
"transcript": "NM_022772.4",
"protein_id": "NP_073609.2",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 715,
"cds_start": 738,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000318562.13",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022772.4"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L2",
"gene_hgnc_id": 21296,
"hgvs_c": "c.738delC",
"hgvs_p": "p.Val247fs",
"transcript": "ENST00000318562.13",
"protein_id": "ENSP00000320828.8",
"transcript_support_level": 1,
"aa_start": 246,
"aa_end": null,
"aa_length": 715,
"cds_start": 738,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_022772.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000318562.13"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L2",
"gene_hgnc_id": 21296,
"hgvs_c": "c.786delC",
"hgvs_p": "p.Val263fs",
"transcript": "ENST00000526198.5",
"protein_id": "ENSP00000436230.1",
"transcript_support_level": 1,
"aa_start": 262,
"aa_end": null,
"aa_length": 731,
"cds_start": 786,
"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": "ENST00000526198.5"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L2",
"gene_hgnc_id": 21296,
"hgvs_c": "c.738delC",
"hgvs_p": "p.Val247fs",
"transcript": "ENST00000530636.5",
"protein_id": "ENSP00000436035.1",
"transcript_support_level": 1,
"aa_start": 246,
"aa_end": null,
"aa_length": 715,
"cds_start": 738,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000530636.5"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L2",
"gene_hgnc_id": 21296,
"hgvs_c": "c.738delC",
"hgvs_p": "p.Val247fs",
"transcript": "ENST00000650127.1",
"protein_id": "ENSP00000497389.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 788,
"cds_start": 738,
"cds_end": null,
"cds_length": 2367,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000650127.1"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L2",
"gene_hgnc_id": 21296,
"hgvs_c": "c.738delC",
"hgvs_p": "p.Val247fs",
"transcript": "ENST00000856477.1",
"protein_id": "ENSP00000526536.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 744,
"cds_start": 738,
"cds_end": null,
"cds_length": 2235,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856477.1"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L2",
"gene_hgnc_id": 21296,
"hgvs_c": "c.786delC",
"hgvs_p": "p.Val263fs",
"transcript": "ENST00000614442.4",
"protein_id": "ENSP00000480201.1",
"transcript_support_level": 5,
"aa_start": 262,
"aa_end": null,
"aa_length": 731,
"cds_start": 786,
"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": "ENST00000614442.4"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L2",
"gene_hgnc_id": 21296,
"hgvs_c": "c.738delC",
"hgvs_p": "p.Val247fs",
"transcript": "NM_001441192.1",
"protein_id": "NP_001428121.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 715,
"cds_start": 738,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441192.1"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L2",
"gene_hgnc_id": 21296,
"hgvs_c": "c.738delC",
"hgvs_p": "p.Val247fs",
"transcript": "NM_001441193.1",
"protein_id": "NP_001428122.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 715,
"cds_start": 738,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441193.1"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L2",
"gene_hgnc_id": 21296,
"hgvs_c": "c.738delC",
"hgvs_p": "p.Val247fs",
"transcript": "ENST00000533256.5",
"protein_id": "ENSP00000435585.1",
"transcript_support_level": 5,
"aa_start": 246,
"aa_end": null,
"aa_length": 715,
"cds_start": 738,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000533256.5"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L2",
"gene_hgnc_id": 21296,
"hgvs_c": "c.738delC",
"hgvs_p": "p.Val247fs",
"transcript": "ENST00000856465.1",
"protein_id": "ENSP00000526524.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 715,
"cds_start": 738,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856465.1"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L2",
"gene_hgnc_id": 21296,
"hgvs_c": "c.738delC",
"hgvs_p": "p.Val247fs",
"transcript": "ENST00000856466.1",
"protein_id": "ENSP00000526525.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 715,
"cds_start": 738,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856466.1"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L2",
"gene_hgnc_id": 21296,
"hgvs_c": "c.738delC",
"hgvs_p": "p.Val247fs",
"transcript": "ENST00000856467.1",
"protein_id": "ENSP00000526526.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 715,
"cds_start": 738,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856467.1"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L2",
"gene_hgnc_id": 21296,
"hgvs_c": "c.738delC",
"hgvs_p": "p.Val247fs",
"transcript": "ENST00000856469.1",
"protein_id": "ENSP00000526528.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 715,
"cds_start": 738,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856469.1"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L2",
"gene_hgnc_id": 21296,
"hgvs_c": "c.738delC",
"hgvs_p": "p.Val247fs",
"transcript": "ENST00000856470.1",
"protein_id": "ENSP00000526529.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 715,
"cds_start": 738,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856470.1"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L2",
"gene_hgnc_id": 21296,
"hgvs_c": "c.738delC",
"hgvs_p": "p.Val247fs",
"transcript": "ENST00000856471.1",
"protein_id": "ENSP00000526530.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 715,
"cds_start": 738,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856471.1"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L2",
"gene_hgnc_id": 21296,
"hgvs_c": "c.738delC",
"hgvs_p": "p.Val247fs",
"transcript": "ENST00000856472.1",
"protein_id": "ENSP00000526531.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 715,
"cds_start": 738,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856472.1"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L2",
"gene_hgnc_id": 21296,
"hgvs_c": "c.738delC",
"hgvs_p": "p.Val247fs",
"transcript": "ENST00000856473.1",
"protein_id": "ENSP00000526532.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 715,
"cds_start": 738,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856473.1"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L2",
"gene_hgnc_id": 21296,
"hgvs_c": "c.738delC",
"hgvs_p": "p.Val247fs",
"transcript": "ENST00000856478.1",
"protein_id": "ENSP00000526537.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 715,
"cds_start": 738,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856478.1"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L2",
"gene_hgnc_id": 21296,
"hgvs_c": "c.738delC",
"hgvs_p": "p.Val247fs",
"transcript": "ENST00000856479.1",
"protein_id": "ENSP00000526538.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 715,
"cds_start": 738,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856479.1"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L2",
"gene_hgnc_id": 21296,
"hgvs_c": "c.738delC",
"hgvs_p": "p.Val247fs",
"transcript": "ENST00000856481.1",
"protein_id": "ENSP00000526540.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 715,
"cds_start": 738,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856481.1"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L2",
"gene_hgnc_id": 21296,
"hgvs_c": "c.738delC",
"hgvs_p": "p.Val247fs",
"transcript": "ENST00000856482.1",
"protein_id": "ENSP00000526541.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 715,
"cds_start": 738,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856482.1"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L2",
"gene_hgnc_id": 21296,
"hgvs_c": "c.738delC",
"hgvs_p": "p.Val247fs",
"transcript": "ENST00000856483.1",
"protein_id": "ENSP00000526542.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 715,
"cds_start": 738,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856483.1"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L2",
"gene_hgnc_id": 21296,
"hgvs_c": "c.738delC",
"hgvs_p": "p.Val247fs",
"transcript": "ENST00000856484.1",
"protein_id": "ENSP00000526543.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 715,
"cds_start": 738,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856484.1"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L2",
"gene_hgnc_id": 21296,
"hgvs_c": "c.738delC",
"hgvs_p": "p.Val247fs",
"transcript": "ENST00000961515.1",
"protein_id": "ENSP00000631574.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 715,
"cds_start": 738,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961515.1"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L2",
"gene_hgnc_id": 21296,
"hgvs_c": "c.738delC",
"hgvs_p": "p.Val247fs",
"transcript": "ENST00000961516.1",
"protein_id": "ENSP00000631575.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 715,
"cds_start": 738,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961516.1"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L2",
"gene_hgnc_id": 21296,
"hgvs_c": "c.738delC",
"hgvs_p": "p.Val247fs",
"transcript": "ENST00000856475.1",
"protein_id": "ENSP00000526534.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 714,
"cds_start": 738,
"cds_end": null,
"cds_length": 2145,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856475.1"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L2",
"gene_hgnc_id": 21296,
"hgvs_c": "c.732delC",
"hgvs_p": "p.Val245fs",
"transcript": "ENST00000856468.1",
"protein_id": "ENSP00000526527.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 713,
"cds_start": 732,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856468.1"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L2",
"gene_hgnc_id": 21296,
"hgvs_c": "c.732delC",
"hgvs_p": "p.Val245fs",
"transcript": "ENST00000856474.1",
"protein_id": "ENSP00000526533.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 713,
"cds_start": 732,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856474.1"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L2",
"gene_hgnc_id": 21296,
"hgvs_c": "c.732delC",
"hgvs_p": "p.Val245fs",
"transcript": "ENST00000856476.1",
"protein_id": "ENSP00000526535.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 713,
"cds_start": 732,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856476.1"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L2",
"gene_hgnc_id": 21296,
"hgvs_c": "c.738delC",
"hgvs_p": "p.Val247fs",
"transcript": "ENST00000856480.1",
"protein_id": "ENSP00000526539.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 713,
"cds_start": 738,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856480.1"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L2",
"gene_hgnc_id": 21296,
"hgvs_c": "c.696delC",
"hgvs_p": "p.Val233fs",
"transcript": "ENST00000912218.1",
"protein_id": "ENSP00000582277.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 701,
"cds_start": 696,
"cds_end": null,
"cds_length": 2106,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912218.1"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L2",
"gene_hgnc_id": 21296,
"hgvs_c": "c.201delC",
"hgvs_p": "p.Val68fs",
"transcript": "NM_001441194.1",
"protein_id": "NP_001428123.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 536,
"cds_start": 201,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441194.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L2",
"gene_hgnc_id": 21296,
"hgvs_c": "n.402delC",
"hgvs_p": null,
"transcript": "ENST00000524474.5",
"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": "retained_intron",
"feature": "ENST00000524474.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L2",
"gene_hgnc_id": 21296,
"hgvs_c": "n.226delC",
"hgvs_p": null,
"transcript": "ENST00000526651.5",
"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": "retained_intron",
"feature": "ENST00000526651.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L2",
"gene_hgnc_id": 21296,
"hgvs_c": "n.*1443delC",
"hgvs_p": null,
"transcript": "ENST00000526909.5",
"protein_id": "ENSP00000433173.1",
"transcript_support_level": 5,
"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": "nonsense_mediated_decay",
"feature": "ENST00000526909.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L2",
"gene_hgnc_id": 21296,
"hgvs_c": "n.168delC",
"hgvs_p": null,
"transcript": "ENST00000528770.5",
"protein_id": "ENSP00000437145.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000528770.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L2",
"gene_hgnc_id": 21296,
"hgvs_c": "n.950delC",
"hgvs_p": null,
"transcript": "ENST00000529346.5",
"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": "retained_intron",
"feature": "ENST00000529346.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L2",
"gene_hgnc_id": 21296,
"hgvs_c": "n.159delC",
"hgvs_p": null,
"transcript": "ENST00000530452.6",
"protein_id": "ENSP00000433057.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000530452.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L2",
"gene_hgnc_id": 21296,
"hgvs_c": "n.351delC",
"hgvs_p": null,
"transcript": "ENST00000531471.1",
"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": "retained_intron",
"feature": "ENST00000531471.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L2",
"gene_hgnc_id": 21296,
"hgvs_c": "n.153delC",
"hgvs_p": null,
"transcript": "ENST00000532545.1",
"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": "retained_intron",
"feature": "ENST00000532545.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L2",
"gene_hgnc_id": 21296,
"hgvs_c": "n.41delC",
"hgvs_p": null,
"transcript": "ENST00000533816.1",
"protein_id": null,
"transcript_support_level": 5,
"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": "retained_intron",
"feature": "ENST00000533816.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L2",
"gene_hgnc_id": 21296,
"hgvs_c": "n.*1443delC",
"hgvs_p": null,
"transcript": "ENST00000526909.5",
"protein_id": "ENSP00000433173.1",
"transcript_support_level": 5,
"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": "nonsense_mediated_decay",
"feature": "ENST00000526909.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000269915",
"gene_hgnc_id": null,
"hgvs_c": "n.72+5655delG",
"hgvs_p": null,
"transcript": "ENST00000527021.2",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000527021.2"
}
],
"gene_symbol": "EPS8L2",
"gene_hgnc_id": 21296,
"dbsnp": "rs1554952193",
"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": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 2.573,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "NM_022772.4",
"gene_symbol": "EPS8L2",
"hgnc_id": 21296,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.738delC",
"hgvs_p": "p.Val247fs"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000527021.2",
"gene_symbol": "ENSG00000269915",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.72+5655delG",
"hgvs_p": null
}
],
"clinvar_disease": " autosomal recessive 106,Hearing loss",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Hearing loss, autosomal recessive 106",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}