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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: 10-13110666-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=13110666&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 13110666,
"ref": "T",
"alt": "G",
"effect": "intron_variant",
"transcript": "NM_021980.4",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "OPTN",
"gene_hgnc_id": 17142,
"hgvs_c": "c.369+190T>G",
"hgvs_p": null,
"transcript": "NM_001008212.2",
"protein_id": "NP_001008213.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 577,
"cds_start": null,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3479,
"mane_select": "ENST00000378747.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001008212.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "OPTN",
"gene_hgnc_id": 17142,
"hgvs_c": "c.369+190T>G",
"hgvs_p": null,
"transcript": "ENST00000378747.8",
"protein_id": "ENSP00000368021.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 577,
"cds_start": null,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3479,
"mane_select": "NM_001008212.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378747.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "OPTN",
"gene_hgnc_id": 17142,
"hgvs_c": "c.369+190T>G",
"hgvs_p": null,
"transcript": "ENST00000378748.7",
"protein_id": "ENSP00000368022.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 577,
"cds_start": null,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3521,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378748.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "OPTN",
"gene_hgnc_id": 17142,
"hgvs_c": "c.369+190T>G",
"hgvs_p": null,
"transcript": "ENST00000378757.6",
"protein_id": "ENSP00000368032.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 577,
"cds_start": null,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3321,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378757.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "OPTN",
"gene_hgnc_id": 17142,
"hgvs_c": "c.369+190T>G",
"hgvs_p": null,
"transcript": "ENST00000378752.7",
"protein_id": "ENSP00000368027.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 571,
"cds_start": null,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3488,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378752.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "OPTN",
"gene_hgnc_id": 17142,
"hgvs_c": "c.369+190T>G",
"hgvs_p": null,
"transcript": "ENST00000942709.1",
"protein_id": "ENSP00000612768.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 587,
"cds_start": null,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1950,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942709.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "OPTN",
"gene_hgnc_id": 17142,
"hgvs_c": "c.369+190T>G",
"hgvs_p": null,
"transcript": "NM_001008211.1",
"protein_id": "NP_001008212.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 577,
"cds_start": null,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3597,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001008211.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "OPTN",
"gene_hgnc_id": 17142,
"hgvs_c": "c.369+190T>G",
"hgvs_p": null,
"transcript": "NM_001008213.1",
"protein_id": "NP_001008214.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 577,
"cds_start": null,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3582,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001008213.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "OPTN",
"gene_hgnc_id": 17142,
"hgvs_c": "c.369+190T>G",
"hgvs_p": null,
"transcript": "NM_021980.4",
"protein_id": "NP_068815.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 577,
"cds_start": null,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3376,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021980.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "OPTN",
"gene_hgnc_id": 17142,
"hgvs_c": "c.369+190T>G",
"hgvs_p": null,
"transcript": "ENST00000263036.9",
"protein_id": "ENSP00000263036.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 577,
"cds_start": null,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2464,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263036.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "OPTN",
"gene_hgnc_id": 17142,
"hgvs_c": "c.369+190T>G",
"hgvs_p": null,
"transcript": "ENST00000867524.1",
"protein_id": "ENSP00000537583.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 577,
"cds_start": null,
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"cds_length": 1734,
"cdna_start": null,
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"cdna_length": 3917,
"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000867524.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "OPTN",
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"hgvs_c": "c.369+190T>G",
"hgvs_p": null,
"transcript": "ENST00000867525.1",
"protein_id": "ENSP00000537584.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 577,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867525.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "OPTN",
"gene_hgnc_id": 17142,
"hgvs_c": "c.369+190T>G",
"hgvs_p": null,
"transcript": "ENST00000867527.1",
"protein_id": "ENSP00000537586.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000867527.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "OPTN",
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"hgvs_c": "c.369+190T>G",
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"transcript": "ENST00000867528.1",
"protein_id": "ENSP00000537587.1",
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"feature": "ENST00000867528.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "OPTN",
"gene_hgnc_id": 17142,
"hgvs_c": "c.369+190T>G",
"hgvs_p": null,
"transcript": "ENST00000867531.1",
"protein_id": "ENSP00000537590.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 577,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000867531.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": 5,
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"gene_symbol": "OPTN",
"gene_hgnc_id": 17142,
"hgvs_c": "c.369+190T>G",
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"transcript": "ENST00000867535.1",
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000867535.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "OPTN",
"gene_hgnc_id": 17142,
"hgvs_c": "c.369+190T>G",
"hgvs_p": null,
"transcript": "ENST00000867536.1",
"protein_id": "ENSP00000537595.1",
"transcript_support_level": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000867536.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "OPTN",
"gene_hgnc_id": 17142,
"hgvs_c": "c.369+190T>G",
"hgvs_p": null,
"transcript": "ENST00000867539.1",
"protein_id": "ENSP00000537598.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"feature": "ENST00000867539.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 4,
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"gene_symbol": "OPTN",
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"hgvs_c": "c.369+190T>G",
"hgvs_p": null,
"transcript": "ENST00000867545.1",
"protein_id": "ENSP00000537604.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 4,
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"gene_symbol": "OPTN",
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"hgvs_c": "c.369+190T>G",
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"transcript": "ENST00000867548.1",
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"feature": "ENST00000867548.1"
},
{
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"strand": true,
"consequences": [
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],
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"intron_rank": 3,
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"gene_symbol": "OPTN",
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"hgvs_c": "c.369+190T>G",
"hgvs_p": null,
"transcript": "ENST00000867550.1",
"protein_id": "ENSP00000537609.1",
"transcript_support_level": null,
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"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"cdna_length": 1981,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867550.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "OPTN",
"gene_hgnc_id": 17142,
"hgvs_c": "c.369+190T>G",
"hgvs_p": null,
"transcript": "ENST00000867554.1",
"protein_id": "ENSP00000537613.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 577,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": 2260,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867554.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 5,
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"hgvs_c": "n.*274+190T>G",
"hgvs_p": null,
"transcript": "ENST00000430081.5",
"protein_id": "ENSP00000414747.2",
"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": 848,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000430081.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "OPTN",
"gene_hgnc_id": 17142,
"hgvs_c": "n.166+1378T>G",
"hgvs_p": null,
"transcript": "ENST00000482140.5",
"protein_id": "ENSP00000484961.1",
"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": 667,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000482140.5"
}
],
"gene_symbol": "OPTN",
"gene_hgnc_id": 17142,
"dbsnp": "rs7921853",
"frequency_reference_population": 0.38981333,
"hom_count_reference_population": 13513,
"allele_count_reference_population": 59268,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.389813,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 59268,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 13513,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.800000011920929,
"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": -0.8,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.497,
"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": -14,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BA1",
"acmg_by_gene": [
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_021980.4",
"gene_symbol": "OPTN",
"hgnc_id": 17142,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD,SD,AR",
"hgvs_c": "c.369+190T>G",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}