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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: 10-13136766-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=13136766&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 13136766,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_021980.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPTN",
"gene_hgnc_id": 17142,
"hgvs_c": "c.1634G>A",
"hgvs_p": "p.Arg545Gln",
"transcript": "NM_001008212.2",
"protein_id": "NP_001008213.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 577,
"cds_start": 1634,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000378747.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001008212.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPTN",
"gene_hgnc_id": 17142,
"hgvs_c": "c.1634G>A",
"hgvs_p": "p.Arg545Gln",
"transcript": "ENST00000378747.8",
"protein_id": "ENSP00000368021.3",
"transcript_support_level": 1,
"aa_start": 545,
"aa_end": null,
"aa_length": 577,
"cds_start": 1634,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001008212.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378747.8"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPTN",
"gene_hgnc_id": 17142,
"hgvs_c": "c.1634G>A",
"hgvs_p": "p.Arg545Gln",
"transcript": "ENST00000378748.7",
"protein_id": "ENSP00000368022.3",
"transcript_support_level": 1,
"aa_start": 545,
"aa_end": null,
"aa_length": 577,
"cds_start": 1634,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378748.7"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPTN",
"gene_hgnc_id": 17142,
"hgvs_c": "c.1634G>A",
"hgvs_p": "p.Arg545Gln",
"transcript": "ENST00000378757.6",
"protein_id": "ENSP00000368032.2",
"transcript_support_level": 1,
"aa_start": 545,
"aa_end": null,
"aa_length": 577,
"cds_start": 1634,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378757.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPTN",
"gene_hgnc_id": 17142,
"hgvs_c": "c.1616G>A",
"hgvs_p": "p.Arg539Gln",
"transcript": "ENST00000378752.7",
"protein_id": "ENSP00000368027.3",
"transcript_support_level": 1,
"aa_start": 539,
"aa_end": null,
"aa_length": 571,
"cds_start": 1616,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378752.7"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPTN",
"gene_hgnc_id": 17142,
"hgvs_c": "c.1664G>A",
"hgvs_p": "p.Arg555Gln",
"transcript": "ENST00000942709.1",
"protein_id": "ENSP00000612768.1",
"transcript_support_level": null,
"aa_start": 555,
"aa_end": null,
"aa_length": 587,
"cds_start": 1664,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942709.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPTN",
"gene_hgnc_id": 17142,
"hgvs_c": "c.1634G>A",
"hgvs_p": "p.Arg545Gln",
"transcript": "NM_001008211.1",
"protein_id": "NP_001008212.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 577,
"cds_start": 1634,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001008211.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPTN",
"gene_hgnc_id": 17142,
"hgvs_c": "c.1634G>A",
"hgvs_p": "p.Arg545Gln",
"transcript": "NM_001008213.1",
"protein_id": "NP_001008214.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 577,
"cds_start": 1634,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001008213.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPTN",
"gene_hgnc_id": 17142,
"hgvs_c": "c.1634G>A",
"hgvs_p": "p.Arg545Gln",
"transcript": "NM_021980.4",
"protein_id": "NP_068815.2",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 577,
"cds_start": 1634,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021980.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPTN",
"gene_hgnc_id": 17142,
"hgvs_c": "c.1634G>A",
"hgvs_p": "p.Arg545Gln",
"transcript": "ENST00000263036.9",
"protein_id": "ENSP00000263036.3",
"transcript_support_level": 2,
"aa_start": 545,
"aa_end": null,
"aa_length": 577,
"cds_start": 1634,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263036.9"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPTN",
"gene_hgnc_id": 17142,
"hgvs_c": "c.1634G>A",
"hgvs_p": "p.Arg545Gln",
"transcript": "ENST00000867524.1",
"protein_id": "ENSP00000537583.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 577,
"cds_start": 1634,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867524.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPTN",
"gene_hgnc_id": 17142,
"hgvs_c": "c.1634G>A",
"hgvs_p": "p.Arg545Gln",
"transcript": "ENST00000867525.1",
"protein_id": "ENSP00000537584.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 577,
"cds_start": 1634,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867525.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPTN",
"gene_hgnc_id": 17142,
"hgvs_c": "c.1634G>A",
"hgvs_p": "p.Arg545Gln",
"transcript": "ENST00000867527.1",
"protein_id": "ENSP00000537586.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 577,
"cds_start": 1634,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867527.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPTN",
"gene_hgnc_id": 17142,
"hgvs_c": "c.1634G>A",
"hgvs_p": "p.Arg545Gln",
"transcript": "ENST00000867528.1",
"protein_id": "ENSP00000537587.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 577,
"cds_start": 1634,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867528.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPTN",
"gene_hgnc_id": 17142,
"hgvs_c": "c.1634G>A",
"hgvs_p": "p.Arg545Gln",
"transcript": "ENST00000867531.1",
"protein_id": "ENSP00000537590.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 577,
"cds_start": 1634,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867531.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPTN",
"gene_hgnc_id": 17142,
"hgvs_c": "c.1634G>A",
"hgvs_p": "p.Arg545Gln",
"transcript": "ENST00000867535.1",
"protein_id": "ENSP00000537594.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 577,
"cds_start": 1634,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867535.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPTN",
"gene_hgnc_id": 17142,
"hgvs_c": "c.1634G>A",
"hgvs_p": "p.Arg545Gln",
"transcript": "ENST00000867536.1",
"protein_id": "ENSP00000537595.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 577,
"cds_start": 1634,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867536.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPTN",
"gene_hgnc_id": 17142,
"hgvs_c": "c.1634G>A",
"hgvs_p": "p.Arg545Gln",
"transcript": "ENST00000867539.1",
"protein_id": "ENSP00000537598.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 577,
"cds_start": 1634,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867539.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPTN",
"gene_hgnc_id": 17142,
"hgvs_c": "c.1634G>A",
"hgvs_p": "p.Arg545Gln",
"transcript": "ENST00000867545.1",
"protein_id": "ENSP00000537604.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 577,
"cds_start": 1634,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867545.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPTN",
"gene_hgnc_id": 17142,
"hgvs_c": "c.1634G>A",
"hgvs_p": "p.Arg545Gln",
"transcript": "ENST00000867548.1",
"protein_id": "ENSP00000537607.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 577,
"cds_start": 1634,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867548.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPTN",
"gene_hgnc_id": 17142,
"hgvs_c": "c.1634G>A",
"hgvs_p": "p.Arg545Gln",
"transcript": "ENST00000867550.1",
"protein_id": "ENSP00000537609.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 577,
"cds_start": 1634,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867550.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPTN",
"gene_hgnc_id": 17142,
"hgvs_c": "c.1634G>A",
"hgvs_p": "p.Arg545Gln",
"transcript": "ENST00000867554.1",
"protein_id": "ENSP00000537613.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 577,
"cds_start": 1634,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"protein_id": "ENSP00000612769.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 403,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942710.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPTN",
"gene_hgnc_id": 17142,
"hgvs_c": "c.1097G>A",
"hgvs_p": "p.Arg366Gln",
"transcript": "ENST00000867540.1",
"protein_id": "ENSP00000537599.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 398,
"cds_start": 1097,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867540.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPTN",
"gene_hgnc_id": 17142,
"hgvs_c": "n.490G>A",
"hgvs_p": null,
"transcript": "ENST00000469025.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000469025.1"
}
],
"gene_symbol": "OPTN",
"gene_hgnc_id": 17142,
"dbsnp": "rs75654767",
"frequency_reference_population": 0.0013735702,
"hom_count_reference_population": 36,
"allele_count_reference_population": 2217,
"gnomad_exomes_af": 0.00136683,
"gnomad_genomes_af": 0.00143825,
"gnomad_exomes_ac": 1998,
"gnomad_genomes_ac": 219,
"gnomad_exomes_homalt": 30,
"gnomad_genomes_homalt": 6,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.03974252939224243,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.22,
"revel_prediction": "Benign",
"alphamissense_score": 0.0597,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.53,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.605,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS1,BS2",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_021980.4",
"gene_symbol": "OPTN",
"hgnc_id": 17142,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD,SD",
"hgvs_c": "c.1634G>A",
"hgvs_p": "p.Arg545Gln"
}
],
"clinvar_disease": " E, open angle,Amyotrophic lateral sclerosis type 12,Glaucoma 1,OPTN-related disorder,Primary open angle glaucoma,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:2 B:5",
"phenotype_combined": "Glaucoma 1, open angle, E|Primary open angle glaucoma|Amyotrophic lateral sclerosis type 12;Glaucoma 1, open angle, E;Primary open angle glaucoma|not specified|not provided|Amyotrophic lateral sclerosis type 12|OPTN-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}