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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: X-149932625-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=149932625&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 149932625,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001013845.2",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOLA2",
"gene_hgnc_id": 17402,
"hgvs_c": "c.396G>A",
"hgvs_p": "p.Glu132Glu",
"transcript": "NM_001013845.2",
"protein_id": "NP_001013867.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 158,
"cds_start": 396,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000370406.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001013845.2"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOLA2",
"gene_hgnc_id": 17402,
"hgvs_c": "c.396G>A",
"hgvs_p": "p.Glu132Glu",
"transcript": "ENST00000370406.8",
"protein_id": "ENSP00000359434.3",
"transcript_support_level": 1,
"aa_start": 132,
"aa_end": null,
"aa_length": 158,
"cds_start": 396,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001013845.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370406.8"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOLA2",
"gene_hgnc_id": 17402,
"hgvs_c": "c.396G>A",
"hgvs_p": "p.Glu132Glu",
"transcript": "ENST00000355203.6",
"protein_id": "ENSP00000347339.2",
"transcript_support_level": 1,
"aa_start": 132,
"aa_end": null,
"aa_length": 158,
"cds_start": 396,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355203.6"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOLA2",
"gene_hgnc_id": 17402,
"hgvs_c": "c.396G>A",
"hgvs_p": "p.Glu132Glu",
"transcript": "NM_001438792.1",
"protein_id": "NP_001425721.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 158,
"cds_start": 396,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438792.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOLA2",
"gene_hgnc_id": 17402,
"hgvs_c": "c.396G>A",
"hgvs_p": "p.Glu132Glu",
"transcript": "NM_001438793.1",
"protein_id": "NP_001425722.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 158,
"cds_start": 396,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438793.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOLA2",
"gene_hgnc_id": 17402,
"hgvs_c": "c.396G>A",
"hgvs_p": "p.Glu132Glu",
"transcript": "NM_001438794.1",
"protein_id": "NP_001425723.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 158,
"cds_start": 396,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438794.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOLA2",
"gene_hgnc_id": 17402,
"hgvs_c": "c.396G>A",
"hgvs_p": "p.Glu132Glu",
"transcript": "NM_001438795.1",
"protein_id": "NP_001425724.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 158,
"cds_start": 396,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438795.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOLA2",
"gene_hgnc_id": 17402,
"hgvs_c": "c.396G>A",
"hgvs_p": "p.Glu132Glu",
"transcript": "NM_001438796.1",
"protein_id": "NP_001425725.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 158,
"cds_start": 396,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438796.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOLA2",
"gene_hgnc_id": 17402,
"hgvs_c": "c.396G>A",
"hgvs_p": "p.Glu132Glu",
"transcript": "NM_001438797.1",
"protein_id": "NP_001425726.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 158,
"cds_start": 396,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438797.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOLA2",
"gene_hgnc_id": 17402,
"hgvs_c": "c.396G>A",
"hgvs_p": "p.Glu132Glu",
"transcript": "NM_001438798.1",
"protein_id": "NP_001425727.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 158,
"cds_start": 396,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438798.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOLA2",
"gene_hgnc_id": 17402,
"hgvs_c": "c.396G>A",
"hgvs_p": "p.Glu132Glu",
"transcript": "ENST00000370404.5",
"protein_id": "ENSP00000359432.1",
"transcript_support_level": 2,
"aa_start": 132,
"aa_end": null,
"aa_length": 158,
"cds_start": 396,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370404.5"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOLA2",
"gene_hgnc_id": 17402,
"hgvs_c": "c.396G>A",
"hgvs_p": "p.Glu132Glu",
"transcript": "ENST00000884057.1",
"protein_id": "ENSP00000554116.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 158,
"cds_start": 396,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884057.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOLA2",
"gene_hgnc_id": 17402,
"hgvs_c": "c.396G>A",
"hgvs_p": "p.Glu132Glu",
"transcript": "ENST00000884058.1",
"protein_id": "ENSP00000554117.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 158,
"cds_start": 396,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884058.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOLA2",
"gene_hgnc_id": 17402,
"hgvs_c": "c.396G>A",
"hgvs_p": "p.Glu132Glu",
"transcript": "ENST00000884059.1",
"protein_id": "ENSP00000554118.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 158,
"cds_start": 396,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884059.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOLA2",
"gene_hgnc_id": 17402,
"hgvs_c": "c.396G>A",
"hgvs_p": "p.Glu132Glu",
"transcript": "ENST00000884060.1",
"protein_id": "ENSP00000554119.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 158,
"cds_start": 396,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884060.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOLA2",
"gene_hgnc_id": 17402,
"hgvs_c": "c.396G>A",
"hgvs_p": "p.Glu132Glu",
"transcript": "ENST00000884061.1",
"protein_id": "ENSP00000554120.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 158,
"cds_start": 396,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884061.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOLA2",
"gene_hgnc_id": 17402,
"hgvs_c": "c.396G>A",
"hgvs_p": "p.Glu132Glu",
"transcript": "ENST00000884062.1",
"protein_id": "ENSP00000554121.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 158,
"cds_start": 396,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884062.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOLA2",
"gene_hgnc_id": 17402,
"hgvs_c": "c.396G>A",
"hgvs_p": "p.Glu132Glu",
"transcript": "ENST00000884063.1",
"protein_id": "ENSP00000554122.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 158,
"cds_start": 396,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884063.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOLA2",
"gene_hgnc_id": 17402,
"hgvs_c": "c.396G>A",
"hgvs_p": "p.Glu132Glu",
"transcript": "ENST00000884064.1",
"protein_id": "ENSP00000554123.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 158,
"cds_start": 396,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884064.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOLA2",
"gene_hgnc_id": 17402,
"hgvs_c": "c.396G>A",
"hgvs_p": "p.Glu132Glu",
"transcript": "ENST00000884065.1",
"protein_id": "ENSP00000554124.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 158,
"cds_start": 396,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884065.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOLA2",
"gene_hgnc_id": 17402,
"hgvs_c": "c.396G>A",
"hgvs_p": "p.Glu132Glu",
"transcript": "ENST00000884066.1",
"protein_id": "ENSP00000554125.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 158,
"cds_start": 396,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884066.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOLA2",
"gene_hgnc_id": 17402,
"hgvs_c": "c.396G>A",
"hgvs_p": "p.Glu132Glu",
"transcript": "ENST00000884067.1",
"protein_id": "ENSP00000554126.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 158,
"cds_start": 396,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884067.1"
},
{
"aa_ref": "E",
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"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOLA2",
"gene_hgnc_id": 17402,
"hgvs_c": "c.396G>A",
"hgvs_p": "p.Glu132Glu",
"transcript": "XM_047442178.1",
"protein_id": "XP_047298134.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 146,
"cds_start": 396,
"cds_end": null,
"cds_length": 441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442178.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOLA2",
"gene_hgnc_id": 17402,
"hgvs_c": "c.396G>A",
"hgvs_p": "p.Glu132Glu",
"transcript": "XM_047442179.1",
"protein_id": "XP_047298135.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 146,
"cds_start": 396,
"cds_end": null,
"cds_length": 441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442179.1"
}
],
"gene_symbol": "EOLA2",
"gene_hgnc_id": 17402,
"dbsnp": "rs147269683",
"frequency_reference_population": 0.00015286061,
"hom_count_reference_population": 57,
"allele_count_reference_population": 184,
"gnomad_exomes_af": 0.0000975641,
"gnomad_genomes_af": 0.000719653,
"gnomad_exomes_ac": 107,
"gnomad_genomes_ac": 77,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.49000000953674316,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.49,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.122,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7,BS2",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001013845.2",
"gene_symbol": "EOLA2",
"hgnc_id": 17402,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.396G>A",
"hgvs_p": "p.Glu132Glu"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}