← 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: 2-75493442-CGCTGTCGCT-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=75493442&ref=CGCTGTCGCT&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 75493442,
"ref": "CGCTGTCGCT",
"alt": "C",
"effect": "conservative_inframe_deletion",
"transcript": "NM_032181.3",
"consequences": [
{
"aa_ref": "SDS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1A",
"gene_hgnc_id": 25816,
"hgvs_c": "c.244_252delAGCGACAGC",
"hgvs_p": "p.Ser82_Ser84del",
"transcript": "NM_001135032.2",
"protein_id": "NP_001128504.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 152,
"cds_start": 244,
"cds_end": null,
"cds_length": 459,
"cdna_start": 703,
"cdna_end": null,
"cdna_length": 1828,
"mane_select": "ENST00000393913.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001135032.2"
},
{
"aa_ref": "SDS",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1A",
"gene_hgnc_id": 25816,
"hgvs_c": "c.244_252delAGCGACAGC",
"hgvs_p": "p.Ser82_Ser84del",
"transcript": "ENST00000393913.8",
"protein_id": "ENSP00000377490.3",
"transcript_support_level": 1,
"aa_start": 82,
"aa_end": null,
"aa_length": 152,
"cds_start": 244,
"cds_end": null,
"cds_length": 459,
"cdna_start": 703,
"cdna_end": null,
"cdna_length": 1828,
"mane_select": "NM_001135032.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393913.8"
},
{
"aa_ref": "SDS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1A",
"gene_hgnc_id": 25816,
"hgvs_c": "c.301_309delAGCGACAGC",
"hgvs_p": "p.Ser101_Ser103del",
"transcript": "ENST00000910300.1",
"protein_id": "ENSP00000580359.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 171,
"cds_start": 301,
"cds_end": null,
"cds_length": 516,
"cdna_start": 499,
"cdna_end": null,
"cdna_length": 1623,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910300.1"
},
{
"aa_ref": "SDS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1A",
"gene_hgnc_id": 25816,
"hgvs_c": "c.301_309delAGCGACAGC",
"hgvs_p": "p.Ser101_Ser103del",
"transcript": "ENST00000910305.1",
"protein_id": "ENSP00000580364.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 171,
"cds_start": 301,
"cds_end": null,
"cds_length": 516,
"cdna_start": 476,
"cdna_end": null,
"cdna_length": 1453,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910305.1"
},
{
"aa_ref": "SDS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1A",
"gene_hgnc_id": 25816,
"hgvs_c": "c.244_252delAGCGACAGC",
"hgvs_p": "p.Ser82_Ser84del",
"transcript": "NM_001369524.1",
"protein_id": "NP_001356453.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 152,
"cds_start": 244,
"cds_end": null,
"cds_length": 459,
"cdna_start": 844,
"cdna_end": null,
"cdna_length": 1969,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369524.1"
},
{
"aa_ref": "SDS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1A",
"gene_hgnc_id": 25816,
"hgvs_c": "c.244_252delAGCGACAGC",
"hgvs_p": "p.Ser82_Ser84del",
"transcript": "NM_001369525.1",
"protein_id": "NP_001356454.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 152,
"cds_start": 244,
"cds_end": null,
"cds_length": 459,
"cdna_start": 791,
"cdna_end": null,
"cdna_length": 1916,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369525.1"
},
{
"aa_ref": "SDS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1A",
"gene_hgnc_id": 25816,
"hgvs_c": "c.244_252delAGCGACAGC",
"hgvs_p": "p.Ser82_Ser84del",
"transcript": "NM_032181.3",
"protein_id": "NP_115557.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 152,
"cds_start": 244,
"cds_end": null,
"cds_length": 459,
"cdna_start": 687,
"cdna_end": null,
"cdna_length": 1812,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032181.3"
},
{
"aa_ref": "SDS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1A",
"gene_hgnc_id": 25816,
"hgvs_c": "c.244_252delAGCGACAGC",
"hgvs_p": "p.Ser82_Ser84del",
"transcript": "ENST00000233712.5",
"protein_id": "ENSP00000233712.1",
"transcript_support_level": 2,
"aa_start": 82,
"aa_end": null,
"aa_length": 152,
"cds_start": 244,
"cds_end": null,
"cds_length": 459,
"cdna_start": 690,
"cdna_end": null,
"cdna_length": 1815,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000233712.5"
},
{
"aa_ref": "SDS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1A",
"gene_hgnc_id": 25816,
"hgvs_c": "c.244_252delAGCGACAGC",
"hgvs_p": "p.Ser82_Ser84del",
"transcript": "ENST00000410071.5",
"protein_id": "ENSP00000386930.1",
"transcript_support_level": 3,
"aa_start": 82,
"aa_end": null,
"aa_length": 152,
"cds_start": 244,
"cds_end": null,
"cds_length": 459,
"cdna_start": 485,
"cdna_end": null,
"cdna_length": 777,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000410071.5"
},
{
"aa_ref": "SDS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1A",
"gene_hgnc_id": 25816,
"hgvs_c": "c.244_252delAGCGACAGC",
"hgvs_p": "p.Ser82_Ser84del",
"transcript": "ENST00000410113.5",
"protein_id": "ENSP00000386435.1",
"transcript_support_level": 3,
"aa_start": 82,
"aa_end": null,
"aa_length": 152,
"cds_start": 244,
"cds_end": null,
"cds_length": 459,
"cdna_start": 790,
"cdna_end": null,
"cdna_length": 1747,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000410113.5"
},
{
"aa_ref": "SDS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1A",
"gene_hgnc_id": 25816,
"hgvs_c": "c.244_252delAGCGACAGC",
"hgvs_p": "p.Ser82_Ser84del",
"transcript": "ENST00000910257.1",
"protein_id": "ENSP00000580316.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 152,
"cds_start": 244,
"cds_end": null,
"cds_length": 459,
"cdna_start": 398,
"cdna_end": null,
"cdna_length": 1522,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910257.1"
},
{
"aa_ref": "SDS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1A",
"gene_hgnc_id": 25816,
"hgvs_c": "c.244_252delAGCGACAGC",
"hgvs_p": "p.Ser82_Ser84del",
"transcript": "ENST00000910258.1",
"protein_id": "ENSP00000580317.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 152,
"cds_start": 244,
"cds_end": null,
"cds_length": 459,
"cdna_start": 695,
"cdna_end": null,
"cdna_length": 1793,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910258.1"
},
{
"aa_ref": "SDS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1A",
"gene_hgnc_id": 25816,
"hgvs_c": "c.244_252delAGCGACAGC",
"hgvs_p": "p.Ser82_Ser84del",
"transcript": "ENST00000910259.1",
"protein_id": "ENSP00000580318.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 152,
"cds_start": 244,
"cds_end": null,
"cds_length": 459,
"cdna_start": 509,
"cdna_end": null,
"cdna_length": 1634,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910259.1"
},
{
"aa_ref": "SDS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1A",
"gene_hgnc_id": 25816,
"hgvs_c": "c.244_252delAGCGACAGC",
"hgvs_p": "p.Ser82_Ser84del",
"transcript": "ENST00000910260.1",
"protein_id": "ENSP00000580319.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 152,
"cds_start": 244,
"cds_end": null,
"cds_length": 459,
"cdna_start": 1552,
"cdna_end": null,
"cdna_length": 2673,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910260.1"
},
{
"aa_ref": "SDS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1A",
"gene_hgnc_id": 25816,
"hgvs_c": "c.244_252delAGCGACAGC",
"hgvs_p": "p.Ser82_Ser84del",
"transcript": "ENST00000910261.1",
"protein_id": "ENSP00000580320.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 152,
"cds_start": 244,
"cds_end": null,
"cds_length": 459,
"cdna_start": 597,
"cdna_end": null,
"cdna_length": 1695,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910261.1"
},
{
"aa_ref": "SDS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1A",
"gene_hgnc_id": 25816,
"hgvs_c": "c.244_252delAGCGACAGC",
"hgvs_p": "p.Ser82_Ser84del",
"transcript": "ENST00000910262.1",
"protein_id": "ENSP00000580321.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 152,
"cds_start": 244,
"cds_end": null,
"cds_length": 459,
"cdna_start": 564,
"cdna_end": null,
"cdna_length": 1689,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910262.1"
},
{
"aa_ref": "SDS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1A",
"gene_hgnc_id": 25816,
"hgvs_c": "c.244_252delAGCGACAGC",
"hgvs_p": "p.Ser82_Ser84del",
"transcript": "ENST00000910263.1",
"protein_id": "ENSP00000580322.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 152,
"cds_start": 244,
"cds_end": null,
"cds_length": 459,
"cdna_start": 675,
"cdna_end": null,
"cdna_length": 1800,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910263.1"
},
{
"aa_ref": "SDS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1A",
"gene_hgnc_id": 25816,
"hgvs_c": "c.244_252delAGCGACAGC",
"hgvs_p": "p.Ser82_Ser84del",
"transcript": "ENST00000910264.1",
"protein_id": "ENSP00000580323.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 152,
"cds_start": 244,
"cds_end": null,
"cds_length": 459,
"cdna_start": 765,
"cdna_end": null,
"cdna_length": 1890,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910264.1"
},
{
"aa_ref": "SDS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1A",
"gene_hgnc_id": 25816,
"hgvs_c": "c.244_252delAGCGACAGC",
"hgvs_p": "p.Ser82_Ser84del",
"transcript": "ENST00000910265.1",
"protein_id": "ENSP00000580324.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 152,
"cds_start": 244,
"cds_end": null,
"cds_length": 459,
"cdna_start": 688,
"cdna_end": null,
"cdna_length": 1809,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910265.1"
},
{
"aa_ref": "SDS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1A",
"gene_hgnc_id": 25816,
"hgvs_c": "c.244_252delAGCGACAGC",
"hgvs_p": "p.Ser82_Ser84del",
"transcript": "ENST00000910266.1",
"protein_id": "ENSP00000580325.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 152,
"cds_start": 244,
"cds_end": null,
"cds_length": 459,
"cdna_start": 604,
"cdna_end": null,
"cdna_length": 1729,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910266.1"
},
{
"aa_ref": "SDS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1A",
"gene_hgnc_id": 25816,
"hgvs_c": "c.244_252delAGCGACAGC",
"hgvs_p": "p.Ser82_Ser84del",
"transcript": "ENST00000910267.1",
"protein_id": "ENSP00000580326.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 152,
"cds_start": 244,
"cds_end": null,
"cds_length": 459,
"cdna_start": 633,
"cdna_end": null,
"cdna_length": 1758,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910267.1"
},
{
"aa_ref": "SDS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1A",
"gene_hgnc_id": 25816,
"hgvs_c": "c.244_252delAGCGACAGC",
"hgvs_p": "p.Ser82_Ser84del",
"transcript": "ENST00000910268.1",
"protein_id": "ENSP00000580327.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 152,
"cds_start": 244,
"cds_end": null,
"cds_length": 459,
"cdna_start": 587,
"cdna_end": null,
"cdna_length": 1710,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910268.1"
},
{
"aa_ref": "SDS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1A",
"gene_hgnc_id": 25816,
"hgvs_c": "c.244_252delAGCGACAGC",
"hgvs_p": "p.Ser82_Ser84del",
"transcript": "ENST00000910269.1",
"protein_id": "ENSP00000580328.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 152,
"cds_start": 244,
"cds_end": null,
"cds_length": 459,
"cdna_start": 577,
"cdna_end": null,
"cdna_length": 1702,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910269.1"
},
{
"aa_ref": "SDS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1A",
"gene_hgnc_id": 25816,
"hgvs_c": "c.244_252delAGCGACAGC",
"hgvs_p": "p.Ser82_Ser84del",
"transcript": "ENST00000910270.1",
"protein_id": "ENSP00000580329.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 152,
"cds_start": 244,
"cds_end": null,
"cds_length": 459,
"cdna_start": 838,
"cdna_end": null,
"cdna_length": 1963,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910270.1"
},
{
"aa_ref": "SDS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1A",
"gene_hgnc_id": 25816,
"hgvs_c": "c.244_252delAGCGACAGC",
"hgvs_p": "p.Ser82_Ser84del",
"transcript": "ENST00000910271.1",
"protein_id": "ENSP00000580330.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 152,
"cds_start": 244,
"cds_end": null,
"cds_length": 459,
"cdna_start": 642,
"cdna_end": null,
"cdna_length": 1767,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910271.1"
},
{
"aa_ref": "SDS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1A",
"gene_hgnc_id": 25816,
"hgvs_c": "c.244_252delAGCGACAGC",
"hgvs_p": "p.Ser82_Ser84del",
"transcript": "ENST00000910272.1",
"protein_id": "ENSP00000580331.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 152,
"cds_start": 244,
"cds_end": null,
"cds_length": 459,
"cdna_start": 844,
"cdna_end": null,
"cdna_length": 1817,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910272.1"
},
{
"aa_ref": "SDS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1A",
"gene_hgnc_id": 25816,
"hgvs_c": "c.244_252delAGCGACAGC",
"hgvs_p": "p.Ser82_Ser84del",
"transcript": "ENST00000910273.1",
"protein_id": "ENSP00000580332.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 152,
"cds_start": 244,
"cds_end": null,
"cds_length": 459,
"cdna_start": 797,
"cdna_end": null,
"cdna_length": 1931,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910273.1"
},
{
"aa_ref": "SDS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1A",
"gene_hgnc_id": 25816,
"hgvs_c": "c.244_252delAGCGACAGC",
"hgvs_p": "p.Ser82_Ser84del",
"transcript": "ENST00000910274.1",
"protein_id": "ENSP00000580333.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 152,
"cds_start": 244,
"cds_end": null,
"cds_length": 459,
"cdna_start": 996,
"cdna_end": null,
"cdna_length": 2122,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910274.1"
},
{
"aa_ref": "SDS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1A",
"gene_hgnc_id": 25816,
"hgvs_c": "c.244_252delAGCGACAGC",
"hgvs_p": "p.Ser82_Ser84del",
"transcript": "ENST00000910275.1",
"protein_id": "ENSP00000580334.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 152,
"cds_start": 244,
"cds_end": null,
"cds_length": 459,
"cdna_start": 861,
"cdna_end": null,
"cdna_length": 1959,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910275.1"
},
{
"aa_ref": "SDS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1A",
"gene_hgnc_id": 25816,
"hgvs_c": "c.244_252delAGCGACAGC",
"hgvs_p": "p.Ser82_Ser84del",
"transcript": "ENST00000910276.1",
"protein_id": "ENSP00000580335.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 152,
"cds_start": 244,
"cds_end": null,
"cds_length": 459,
"cdna_start": 1059,
"cdna_end": null,
"cdna_length": 2184,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910276.1"
},
{
"aa_ref": "SDS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1A",
"gene_hgnc_id": 25816,
"hgvs_c": "c.244_252delAGCGACAGC",
"hgvs_p": "p.Ser82_Ser84del",
"transcript": "ENST00000910277.1",
"protein_id": "ENSP00000580336.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 152,
"cds_start": 244,
"cds_end": null,
"cds_length": 459,
"cdna_start": 505,
"cdna_end": null,
"cdna_length": 1603,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910277.1"
},
{
"aa_ref": "SDS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1A",
"gene_hgnc_id": 25816,
"hgvs_c": "c.244_252delAGCGACAGC",
"hgvs_p": "p.Ser82_Ser84del",
"transcript": "ENST00000910278.1",
"protein_id": "ENSP00000580337.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 152,
"cds_start": 244,
"cds_end": null,
"cds_length": 459,
"cdna_start": 687,
"cdna_end": null,
"cdna_length": 1808,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910278.1"
},
{
"aa_ref": "SDS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1A",
"gene_hgnc_id": 25816,
"hgvs_c": "c.244_252delAGCGACAGC",
"hgvs_p": "p.Ser82_Ser84del",
"transcript": "ENST00000910279.1",
"protein_id": "ENSP00000580338.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 152,
"cds_start": 244,
"cds_end": null,
"cds_length": 459,
"cdna_start": 406,
"cdna_end": null,
"cdna_length": 1362,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910279.1"
},
{
"aa_ref": "SDS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1A",
"gene_hgnc_id": 25816,
"hgvs_c": "c.244_252delAGCGACAGC",
"hgvs_p": "p.Ser82_Ser84del",
"transcript": "ENST00000910280.1",
"protein_id": "ENSP00000580339.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 152,
"cds_start": 244,
"cds_end": null,
"cds_length": 459,
"cdna_start": 707,
"cdna_end": null,
"cdna_length": 1833,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910280.1"
},
{
"aa_ref": "SDS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1A",
"gene_hgnc_id": 25816,
"hgvs_c": "c.244_252delAGCGACAGC",
"hgvs_p": "p.Ser82_Ser84del",
"transcript": "ENST00000910282.1",
"protein_id": "ENSP00000580341.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 152,
"cds_start": 244,
"cds_end": null,
"cds_length": 459,
"cdna_start": 580,
"cdna_end": null,
"cdna_length": 1535,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910282.1"
},
{
"aa_ref": "SDS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1A",
"gene_hgnc_id": 25816,
"hgvs_c": "c.244_252delAGCGACAGC",
"hgvs_p": "p.Ser82_Ser84del",
"transcript": "ENST00000910283.1",
"protein_id": "ENSP00000580342.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 152,
"cds_start": 244,
"cds_end": null,
"cds_length": 459,
"cdna_start": 694,
"cdna_end": null,
"cdna_length": 1792,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910283.1"
},
{
"aa_ref": "SDS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1A",
"gene_hgnc_id": 25816,
"hgvs_c": "c.244_252delAGCGACAGC",
"hgvs_p": "p.Ser82_Ser84del",
"transcript": "ENST00000910284.1",
"protein_id": "ENSP00000580343.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 152,
"cds_start": 244,
"cds_end": null,
"cds_length": 459,
"cdna_start": 438,
"cdna_end": null,
"cdna_length": 1572,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910284.1"
},
{
"aa_ref": "SDS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1A",
"gene_hgnc_id": 25816,
"hgvs_c": "c.244_252delAGCGACAGC",
"hgvs_p": "p.Ser82_Ser84del",
"transcript": "ENST00000910285.1",
"protein_id": "ENSP00000580344.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 152,
"cds_start": 244,
"cds_end": null,
"cds_length": 459,
"cdna_start": 4856,
"cdna_end": null,
"cdna_length": 5981,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910285.1"
},
{
"aa_ref": "SDS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1A",
"gene_hgnc_id": 25816,
"hgvs_c": "c.244_252delAGCGACAGC",
"hgvs_p": "p.Ser82_Ser84del",
"transcript": "ENST00000910286.1",
"protein_id": "ENSP00000580345.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 152,
"cds_start": 244,
"cds_end": null,
"cds_length": 459,
"cdna_start": 786,
"cdna_end": null,
"cdna_length": 1884,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910286.1"
},
{
"aa_ref": "SDS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1A",
"gene_hgnc_id": 25816,
"hgvs_c": "c.244_252delAGCGACAGC",
"hgvs_p": "p.Ser82_Ser84del",
"transcript": "ENST00000910287.1",
"protein_id": "ENSP00000580346.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 152,
"cds_start": 244,
"cds_end": null,
"cds_length": 459,
"cdna_start": 693,
"cdna_end": null,
"cdna_length": 1791,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910287.1"
},
{
"aa_ref": "SDS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1A",
"gene_hgnc_id": 25816,
"hgvs_c": "c.244_252delAGCGACAGC",
"hgvs_p": "p.Ser82_Ser84del",
"transcript": "ENST00000910288.1",
"protein_id": "ENSP00000580347.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 152,
"cds_start": 244,
"cds_end": null,
"cds_length": 459,
"cdna_start": 712,
"cdna_end": null,
"cdna_length": 1810,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910288.1"
},
{
"aa_ref": "SDS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1A",
"gene_hgnc_id": 25816,
"hgvs_c": "c.244_252delAGCGACAGC",
"hgvs_p": "p.Ser82_Ser84del",
"transcript": "ENST00000910289.1",
"protein_id": "ENSP00000580348.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 152,
"cds_start": 244,
"cds_end": null,
"cds_length": 459,
"cdna_start": 680,
"cdna_end": null,
"cdna_length": 1637,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910289.1"
},
{
"aa_ref": "SDS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1A",
"gene_hgnc_id": 25816,
"hgvs_c": "c.244_252delAGCGACAGC",
"hgvs_p": "p.Ser82_Ser84del",
"transcript": "ENST00000910290.1",
"protein_id": "ENSP00000580349.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 152,
"cds_start": 244,
"cds_end": null,
"cds_length": 459,
"cdna_start": 2052,
"cdna_end": null,
"cdna_length": 3175,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910290.1"
},
{
"aa_ref": "SDS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1A",
"gene_hgnc_id": 25816,
"hgvs_c": "c.244_252delAGCGACAGC",
"hgvs_p": "p.Ser82_Ser84del",
"transcript": "ENST00000910291.1",
"protein_id": "ENSP00000580350.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 152,
"cds_start": 244,
"cds_end": null,
"cds_length": 459,
"cdna_start": 2802,
"cdna_end": null,
"cdna_length": 3927,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910291.1"
},
{
"aa_ref": "SDS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1A",
"gene_hgnc_id": 25816,
"hgvs_c": "c.244_252delAGCGACAGC",
"hgvs_p": "p.Ser82_Ser84del",
"transcript": "ENST00000910292.1",
"protein_id": "ENSP00000580351.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 152,
"cds_start": 244,
"cds_end": null,
"cds_length": 459,
"cdna_start": 401,
"cdna_end": null,
"cdna_length": 1525,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910292.1"
},
{
"aa_ref": "SDS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1A",
"gene_hgnc_id": 25816,
"hgvs_c": "c.244_252delAGCGACAGC",
"hgvs_p": "p.Ser82_Ser84del",
"transcript": "ENST00000910293.1",
"protein_id": "ENSP00000580352.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 152,
"cds_start": 244,
"cds_end": null,
"cds_length": 459,
"cdna_start": 542,
"cdna_end": null,
"cdna_length": 1640,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910293.1"
},
{
"aa_ref": "SDS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1A",
"gene_hgnc_id": 25816,
"hgvs_c": "c.244_252delAGCGACAGC",
"hgvs_p": "p.Ser82_Ser84del",
"transcript": "ENST00000910294.1",
"protein_id": "ENSP00000580353.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 152,
"cds_start": 244,
"cds_end": null,
"cds_length": 459,
"cdna_start": 453,
"cdna_end": null,
"cdna_length": 1578,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910294.1"
},
{
"aa_ref": "SDS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1A",
"gene_hgnc_id": 25816,
"hgvs_c": "c.244_252delAGCGACAGC",
"hgvs_p": "p.Ser82_Ser84del",
"transcript": "ENST00000910295.1",
"protein_id": "ENSP00000580354.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 152,
"cds_start": 244,
"cds_end": null,
"cds_length": 459,
"cdna_start": 507,
"cdna_end": null,
"cdna_length": 1605,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910295.1"
},
{
"aa_ref": "SDS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1A",
"gene_hgnc_id": 25816,
"hgvs_c": "c.244_252delAGCGACAGC",
"hgvs_p": "p.Ser82_Ser84del",
"transcript": "ENST00000910296.1",
"protein_id": "ENSP00000580355.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 152,
"cds_start": 244,
"cds_end": null,
"cds_length": 459,
"cdna_start": 653,
"cdna_end": null,
"cdna_length": 1778,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910296.1"
},
{
"aa_ref": "SDS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1A",
"gene_hgnc_id": 25816,
"hgvs_c": "c.244_252delAGCGACAGC",
"hgvs_p": "p.Ser82_Ser84del",
"transcript": "ENST00000910297.1",
"protein_id": "ENSP00000580356.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 152,
"cds_start": 244,
"cds_end": null,
"cds_length": 459,
"cdna_start": 487,
"cdna_end": null,
"cdna_length": 1612,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910297.1"
},
{
"aa_ref": "SDS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1A",
"gene_hgnc_id": 25816,
"hgvs_c": "c.244_252delAGCGACAGC",
"hgvs_p": "p.Ser82_Ser84del",
"transcript": "ENST00000910298.1",
"protein_id": "ENSP00000580357.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 152,
"cds_start": 244,
"cds_end": null,
"cds_length": 459,
"cdna_start": 486,
"cdna_end": null,
"cdna_length": 1620,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910298.1"
},
{
"aa_ref": "SDS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1A",
"gene_hgnc_id": 25816,
"hgvs_c": "c.244_252delAGCGACAGC",
"hgvs_p": "p.Ser82_Ser84del",
"transcript": "ENST00000910302.1",
"protein_id": "ENSP00000580361.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 152,
"cds_start": 244,
"cds_end": null,
"cds_length": 459,
"cdna_start": 414,
"cdna_end": null,
"cdna_length": 1538,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910302.1"
},
{
"aa_ref": "SDS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1A",
"gene_hgnc_id": 25816,
"hgvs_c": "c.244_252delAGCGACAGC",
"hgvs_p": "p.Ser82_Ser84del",
"transcript": "ENST00000910303.1",
"protein_id": "ENSP00000580362.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 152,
"cds_start": 244,
"cds_end": null,
"cds_length": 459,
"cdna_start": 384,
"cdna_end": null,
"cdna_length": 1510,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910303.1"
},
{
"aa_ref": "SDS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1A",
"gene_hgnc_id": 25816,
"hgvs_c": "c.244_252delAGCGACAGC",
"hgvs_p": "p.Ser82_Ser84del",
"transcript": "ENST00000910304.1",
"protein_id": "ENSP00000580363.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 152,
"cds_start": 244,
"cds_end": null,
"cds_length": 459,
"cdna_start": 390,
"cdna_end": null,
"cdna_length": 1347,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910304.1"
},
{
"aa_ref": "SDS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1A",
"gene_hgnc_id": 25816,
"hgvs_c": "c.244_252delAGCGACAGC",
"hgvs_p": "p.Ser82_Ser84del",
"transcript": "ENST00000956454.1",
"protein_id": "ENSP00000626513.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 152,
"cds_start": 244,
"cds_end": null,
"cds_length": 459,
"cdna_start": 692,
"cdna_end": null,
"cdna_length": 1817,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956454.1"
},
{
"aa_ref": "SDS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1A",
"gene_hgnc_id": 25816,
"hgvs_c": "c.244_252delAGCGACAGC",
"hgvs_p": "p.Ser82_Ser84del",
"transcript": "ENST00000956455.1",
"protein_id": "ENSP00000626514.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 152,
"cds_start": 244,
"cds_end": null,
"cds_length": 459,
"cdna_start": 874,
"cdna_end": null,
"cdna_length": 1998,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956455.1"
},
{
"aa_ref": "SDS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1A",
"gene_hgnc_id": 25816,
"hgvs_c": "c.244_252delAGCGACAGC",
"hgvs_p": "p.Ser82_Ser84del",
"transcript": "ENST00000956456.1",
"protein_id": "ENSP00000626515.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 152,
"cds_start": 244,
"cds_end": null,
"cds_length": 459,
"cdna_start": 462,
"cdna_end": null,
"cdna_length": 1560,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956456.1"
},
{
"aa_ref": "SDS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1A",
"gene_hgnc_id": 25816,
"hgvs_c": "c.244_252delAGCGACAGC",
"hgvs_p": "p.Ser82_Ser84del",
"transcript": "ENST00000956457.1",
"protein_id": "ENSP00000626516.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 152,
"cds_start": 244,
"cds_end": null,
"cds_length": 459,
"cdna_start": 794,
"cdna_end": null,
"cdna_length": 1751,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956457.1"
},
{
"aa_ref": "SDS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1A",
"gene_hgnc_id": 25816,
"hgvs_c": "c.244_252delAGCGACAGC",
"hgvs_p": "p.Ser82_Ser84del",
"transcript": "ENST00000956458.1",
"protein_id": "ENSP00000626517.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 152,
"cds_start": 244,
"cds_end": null,
"cds_length": 459,
"cdna_start": 727,
"cdna_end": null,
"cdna_length": 1851,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956458.1"
},
{
"aa_ref": "SDS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1A",
"gene_hgnc_id": 25816,
"hgvs_c": "c.244_252delAGCGACAGC",
"hgvs_p": "p.Ser82_Ser84del",
"transcript": "ENST00000432649.5",
"protein_id": "ENSP00000398249.1",
"transcript_support_level": 3,
"aa_start": 82,
"aa_end": null,
"aa_length": 141,
"cds_start": 244,
"cds_end": null,
"cds_length": 428,
"cdna_start": 393,
"cdna_end": null,
"cdna_length": 569,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000432649.5"
},
{
"aa_ref": "SDS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1A",
"gene_hgnc_id": 25816,
"hgvs_c": "c.208_216delAGCGACAGC",
"hgvs_p": "p.Ser70_Ser72del",
"transcript": "ENST00000410010.1",
"protein_id": "ENSP00000386835.1",
"transcript_support_level": 5,
"aa_start": 70,
"aa_end": null,
"aa_length": 140,
"cds_start": 208,
"cds_end": null,
"cds_length": 423,
"cdna_start": 327,
"cdna_end": null,
"cdna_length": 696,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000410010.1"
},
{
"aa_ref": "SDS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1A",
"gene_hgnc_id": 25816,
"hgvs_c": "c.145_153delAGCGACAGC",
"hgvs_p": "p.Ser49_Ser51del",
"transcript": "ENST00000910281.1",
"protein_id": "ENSP00000580340.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 119,
"cds_start": 145,
"cds_end": null,
"cds_length": 360,
"cdna_start": 724,
"cdna_end": null,
"cdna_length": 1848,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910281.1"
},
{
"aa_ref": "SDS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1A",
"gene_hgnc_id": 25816,
"hgvs_c": "c.145_153delAGCGACAGC",
"hgvs_p": "p.Ser49_Ser51del",
"transcript": "ENST00000910299.1",
"protein_id": "ENSP00000580358.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 119,
"cds_start": 145,
"cds_end": null,
"cds_length": 360,
"cdna_start": 353,
"cdna_end": null,
"cdna_length": 1479,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910299.1"
},
{
"aa_ref": "SDS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1A",
"gene_hgnc_id": 25816,
"hgvs_c": "c.145_153delAGCGACAGC",
"hgvs_p": "p.Ser49_Ser51del",
"transcript": "ENST00000910301.1",
"protein_id": "ENSP00000580360.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 119,
"cds_start": 145,
"cds_end": null,
"cds_length": 360,
"cdna_start": 310,
"cdna_end": null,
"cdna_length": 1408,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910301.1"
},
{
"aa_ref": "SDS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1A",
"gene_hgnc_id": 25816,
"hgvs_c": "c.145_153delAGCGACAGC",
"hgvs_p": "p.Ser49_Ser51del",
"transcript": "ENST00000940185.1",
"protein_id": "ENSP00000610244.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 119,
"cds_start": 145,
"cds_end": null,
"cds_length": 360,
"cdna_start": 623,
"cdna_end": null,
"cdna_length": 1747,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940185.1"
},
{
"aa_ref": "SDS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1A",
"gene_hgnc_id": 25816,
"hgvs_c": "c.145_153delAGCGACAGC",
"hgvs_p": "p.Ser49_Ser51del",
"transcript": "ENST00000940186.1",
"protein_id": "ENSP00000610245.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 119,
"cds_start": 145,
"cds_end": null,
"cds_length": 360,
"cdna_start": 676,
"cdna_end": null,
"cdna_length": 1645,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940186.1"
},
{
"aa_ref": "SDS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1A",
"gene_hgnc_id": 25816,
"hgvs_c": "c.244_252delAGCGACAGC",
"hgvs_p": "p.Ser82_Ser84del",
"transcript": "ENST00000452003.1",
"protein_id": "ENSP00000388105.1",
"transcript_support_level": 2,
"aa_start": 82,
"aa_end": null,
"aa_length": 100,
"cds_start": 244,
"cds_end": null,
"cds_length": 303,
"cdna_start": 383,
"cdna_end": null,
"cdna_length": 434,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000452003.1"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "EVA1A",
"gene_hgnc_id": 25816,
"hgvs_c": "n.411-24081_411-24073delAGCGACAGC",
"hgvs_p": null,
"transcript": "ENST00000485891.1",
"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": 479,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000485891.1"
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "EVA1A",
"gene_hgnc_id": 25816,
"hgvs_c": "n.521-24081_521-24073delAGCGACAGC",
"hgvs_p": null,
"transcript": "ENST00000490746.5",
"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": 589,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000490746.5"
}
],
"gene_symbol": "EVA1A",
"gene_hgnc_id": 25816,
"dbsnp": "rs148155576",
"frequency_reference_population": 0.047051717,
"hom_count_reference_population": 2051,
"allele_count_reference_population": 75949,
"gnomad_exomes_af": 0.0465542,
"gnomad_genomes_af": 0.0518265,
"gnomad_exomes_ac": 68055,
"gnomad_genomes_ac": 7894,
"gnomad_exomes_homalt": 1809,
"gnomad_genomes_homalt": 242,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 5.052,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -9,
"acmg_classification": "Benign",
"acmg_criteria": "BP6,BA1",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP6",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_032181.3",
"gene_symbol": "EVA1A",
"hgnc_id": 25816,
"effects": [
"conservative_inframe_deletion"
],
"inheritance_mode": "AR",
"hgvs_c": "c.244_252delAGCGACAGC",
"hgvs_p": "p.Ser82_Ser84del"
}
],
"clinvar_disease": "EVA1A-related disorder",
"clinvar_classification": "Benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "EVA1A-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}