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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: 1-168085647-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=168085647&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 168085647,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001267609.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR161",
"gene_hgnc_id": 23694,
"hgvs_c": "c.1474C>T",
"hgvs_p": "p.Arg492Trp",
"transcript": "NM_001375883.1",
"protein_id": "NP_001362812.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 529,
"cds_start": 1474,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000682931.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375883.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR161",
"gene_hgnc_id": 23694,
"hgvs_c": "c.1474C>T",
"hgvs_p": "p.Arg492Trp",
"transcript": "ENST00000682931.1",
"protein_id": "ENSP00000506967.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 529,
"cds_start": 1474,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001375883.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682931.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR161",
"gene_hgnc_id": 23694,
"hgvs_c": "c.1525C>T",
"hgvs_p": "p.Arg509Trp",
"transcript": "ENST00000271357.9",
"protein_id": "ENSP00000271357.6",
"transcript_support_level": 1,
"aa_start": 509,
"aa_end": null,
"aa_length": 546,
"cds_start": 1525,
"cds_end": null,
"cds_length": 1641,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000271357.9"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR161",
"gene_hgnc_id": 23694,
"hgvs_c": "c.1474C>T",
"hgvs_p": "p.Arg492Trp",
"transcript": "ENST00000367838.5",
"protein_id": "ENSP00000356812.1",
"transcript_support_level": 1,
"aa_start": 492,
"aa_end": null,
"aa_length": 529,
"cds_start": 1474,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367838.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR161",
"gene_hgnc_id": 23694,
"hgvs_c": "c.1534C>T",
"hgvs_p": "p.Arg512Trp",
"transcript": "NM_001267609.1",
"protein_id": "NP_001254538.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 549,
"cds_start": 1534,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001267609.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR161",
"gene_hgnc_id": 23694,
"hgvs_c": "c.1534C>T",
"hgvs_p": "p.Arg512Trp",
"transcript": "ENST00000537209.5",
"protein_id": "ENSP00000441039.1",
"transcript_support_level": 2,
"aa_start": 512,
"aa_end": null,
"aa_length": 549,
"cds_start": 1534,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000537209.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR161",
"gene_hgnc_id": 23694,
"hgvs_c": "c.1525C>T",
"hgvs_p": "p.Arg509Trp",
"transcript": "NM_001267611.1",
"protein_id": "NP_001254540.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 546,
"cds_start": 1525,
"cds_end": null,
"cds_length": 1641,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001267611.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR161",
"gene_hgnc_id": 23694,
"hgvs_c": "c.1474C>T",
"hgvs_p": "p.Arg492Trp",
"transcript": "NM_001267610.2",
"protein_id": "NP_001254539.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 529,
"cds_start": 1474,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001267610.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR161",
"gene_hgnc_id": 23694,
"hgvs_c": "c.1474C>T",
"hgvs_p": "p.Arg492Trp",
"transcript": "NM_001349632.1",
"protein_id": "NP_001336561.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 529,
"cds_start": 1474,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349632.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR161",
"gene_hgnc_id": 23694,
"hgvs_c": "c.1474C>T",
"hgvs_p": "p.Arg492Trp",
"transcript": "NM_001349633.1",
"protein_id": "NP_001336562.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 529,
"cds_start": 1474,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349633.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR161",
"gene_hgnc_id": 23694,
"hgvs_c": "c.1474C>T",
"hgvs_p": "p.Arg492Trp",
"transcript": "NM_001349634.1",
"protein_id": "NP_001336563.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 529,
"cds_start": 1474,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349634.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR161",
"gene_hgnc_id": 23694,
"hgvs_c": "c.1474C>T",
"hgvs_p": "p.Arg492Trp",
"transcript": "NM_001375884.1",
"protein_id": "NP_001362813.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 529,
"cds_start": 1474,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375884.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR161",
"gene_hgnc_id": 23694,
"hgvs_c": "c.1474C>T",
"hgvs_p": "p.Arg492Trp",
"transcript": "NM_001375885.1",
"protein_id": "NP_001362814.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 529,
"cds_start": 1474,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375885.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR161",
"gene_hgnc_id": 23694,
"hgvs_c": "c.1474C>T",
"hgvs_p": "p.Arg492Trp",
"transcript": "NM_001381909.1",
"protein_id": "NP_001368838.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 529,
"cds_start": 1474,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001381909.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR161",
"gene_hgnc_id": 23694,
"hgvs_c": "c.1474C>T",
"hgvs_p": "p.Arg492Trp",
"transcript": "NM_153832.3",
"protein_id": "NP_722561.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 529,
"cds_start": 1474,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153832.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR161",
"gene_hgnc_id": 23694,
"hgvs_c": "c.1474C>T",
"hgvs_p": "p.Arg492Trp",
"transcript": "ENST00000367835.1",
"protein_id": "ENSP00000356809.1",
"transcript_support_level": 2,
"aa_start": 492,
"aa_end": null,
"aa_length": 529,
"cds_start": 1474,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367835.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR161",
"gene_hgnc_id": 23694,
"hgvs_c": "c.1474C>T",
"hgvs_p": "p.Arg492Trp",
"transcript": "ENST00000867324.1",
"protein_id": "ENSP00000537383.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 529,
"cds_start": 1474,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867324.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR161",
"gene_hgnc_id": 23694,
"hgvs_c": "c.1474C>T",
"hgvs_p": "p.Arg492Trp",
"transcript": "ENST00000867325.1",
"protein_id": "ENSP00000537384.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 529,
"cds_start": 1474,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867325.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR161",
"gene_hgnc_id": 23694,
"hgvs_c": "c.1474C>T",
"hgvs_p": "p.Arg492Trp",
"transcript": "ENST00000867326.1",
"protein_id": "ENSP00000537385.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 529,
"cds_start": 1474,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867326.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR161",
"gene_hgnc_id": 23694,
"hgvs_c": "c.1474C>T",
"hgvs_p": "p.Arg492Trp",
"transcript": "ENST00000867327.1",
"protein_id": "ENSP00000537386.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 529,
"cds_start": 1474,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867327.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR161",
"gene_hgnc_id": 23694,
"hgvs_c": "c.1474C>T",
"hgvs_p": "p.Arg492Trp",
"transcript": "ENST00000867328.1",
"protein_id": "ENSP00000537387.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 529,
"cds_start": 1474,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867328.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR161",
"gene_hgnc_id": 23694,
"hgvs_c": "c.1474C>T",
"hgvs_p": "p.Arg492Trp",
"transcript": "ENST00000867329.1",
"protein_id": "ENSP00000537388.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 529,
"cds_start": 1474,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
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"aa_start": 360,
"aa_end": null,
"aa_length": 397,
"cds_start": 1078,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001267612.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR161",
"gene_hgnc_id": 23694,
"hgvs_c": "c.1078C>T",
"hgvs_p": "p.Arg360Trp",
"transcript": "NM_001349635.1",
"protein_id": "NP_001336564.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 397,
"cds_start": 1078,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349635.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR161",
"gene_hgnc_id": 23694,
"hgvs_c": "c.1078C>T",
"hgvs_p": "p.Arg360Trp",
"transcript": "ENST00000367836.5",
"protein_id": "ENSP00000356810.1",
"transcript_support_level": 2,
"aa_start": 360,
"aa_end": null,
"aa_length": 397,
"cds_start": 1078,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367836.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR161",
"gene_hgnc_id": 23694,
"hgvs_c": "n.2131C>T",
"hgvs_p": null,
"transcript": "ENST00000478868.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000478868.1"
}
],
"gene_symbol": "GPR161",
"gene_hgnc_id": 23694,
"dbsnp": "rs142783286",
"frequency_reference_population": 0.000016109007,
"hom_count_reference_population": 0,
"allele_count_reference_population": 26,
"gnomad_exomes_af": 0.0000136817,
"gnomad_genomes_af": 0.0000394223,
"gnomad_exomes_ac": 20,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.21517914533615112,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.313,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1046,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.16,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.479,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001267609.1",
"gene_symbol": "GPR161",
"hgnc_id": 23694,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1534C>T",
"hgvs_p": "p.Arg512Trp"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}