← 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: 6-33574141-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=33574141&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "BAK1",
"hgnc_id": 949,
"hgvs_c": "c.424G>A",
"hgvs_p": "p.Val142Ile",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -2,
"transcript": "NM_001188.4",
"verdict": "Likely_benign"
},
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000293518",
"hgnc_id": null,
"hgvs_c": "n.129-1210C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -2,
"transcript": "ENST00000738005.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_score": -2,
"allele_count_reference_population": 155,
"alphamissense_prediction": null,
"alphamissense_score": 0.1161,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.58,
"chr": "6",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.1649952530860901,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 211,
"aa_ref": "V",
"aa_start": 142,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2170,
"cdna_start": 707,
"cds_end": null,
"cds_length": 636,
"cds_start": 424,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001188.4",
"gene_hgnc_id": 949,
"gene_symbol": "BAK1",
"hgvs_c": "c.424G>A",
"hgvs_p": "p.Val142Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000374467.4",
"protein_coding": true,
"protein_id": "NP_001179.1",
"strand": false,
"transcript": "NM_001188.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 211,
"aa_ref": "V",
"aa_start": 142,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2170,
"cdna_start": 707,
"cds_end": null,
"cds_length": 636,
"cds_start": 424,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000374467.4",
"gene_hgnc_id": 949,
"gene_symbol": "BAK1",
"hgvs_c": "c.424G>A",
"hgvs_p": "p.Val142Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001188.4",
"protein_coding": true,
"protein_id": "ENSP00000363591.3",
"strand": false,
"transcript": "ENST00000374467.4",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 153,
"aa_ref": "T",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2212,
"cdna_start": 744,
"cds_end": null,
"cds_length": 462,
"cds_start": 444,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000442998.6",
"gene_hgnc_id": 949,
"gene_symbol": "BAK1",
"hgvs_c": "c.444G>A",
"hgvs_p": "p.Thr148Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000391258.2",
"strand": false,
"transcript": "ENST00000442998.6",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 270,
"aa_ref": "V",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2351,
"cdna_start": 888,
"cds_end": null,
"cds_length": 813,
"cds_start": 601,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000938018.1",
"gene_hgnc_id": 949,
"gene_symbol": "BAK1",
"hgvs_c": "c.601G>A",
"hgvs_p": "p.Val201Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608077.1",
"strand": false,
"transcript": "ENST00000938018.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 216,
"aa_ref": "V",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2163,
"cdna_start": 695,
"cds_end": null,
"cds_length": 651,
"cds_start": 439,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000963351.1",
"gene_hgnc_id": 949,
"gene_symbol": "BAK1",
"hgvs_c": "c.439G>A",
"hgvs_p": "p.Val147Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633410.1",
"strand": false,
"transcript": "ENST00000963351.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 211,
"aa_ref": "V",
"aa_start": 142,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2310,
"cdna_start": 847,
"cds_end": null,
"cds_length": 636,
"cds_start": 424,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000886795.1",
"gene_hgnc_id": 949,
"gene_symbol": "BAK1",
"hgvs_c": "c.424G>A",
"hgvs_p": "p.Val142Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556854.1",
"strand": false,
"transcript": "ENST00000886795.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 211,
"aa_ref": "V",
"aa_start": 142,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2406,
"cdna_start": 943,
"cds_end": null,
"cds_length": 636,
"cds_start": 424,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000886796.1",
"gene_hgnc_id": 949,
"gene_symbol": "BAK1",
"hgvs_c": "c.424G>A",
"hgvs_p": "p.Val142Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556855.1",
"strand": false,
"transcript": "ENST00000886796.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 211,
"aa_ref": "V",
"aa_start": 142,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2156,
"cdna_start": 693,
"cds_end": null,
"cds_length": 636,
"cds_start": 424,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000886797.1",
"gene_hgnc_id": 949,
"gene_symbol": "BAK1",
"hgvs_c": "c.424G>A",
"hgvs_p": "p.Val142Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556856.1",
"strand": false,
"transcript": "ENST00000886797.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 211,
"aa_ref": "V",
"aa_start": 142,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3700,
"cdna_start": 2237,
"cds_end": null,
"cds_length": 636,
"cds_start": 424,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000886798.1",
"gene_hgnc_id": 949,
"gene_symbol": "BAK1",
"hgvs_c": "c.424G>A",
"hgvs_p": "p.Val142Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556857.1",
"strand": false,
"transcript": "ENST00000886798.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 211,
"aa_ref": "V",
"aa_start": 142,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1985,
"cdna_start": 522,
"cds_end": null,
"cds_length": 636,
"cds_start": 424,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000886799.1",
"gene_hgnc_id": 949,
"gene_symbol": "BAK1",
"hgvs_c": "c.424G>A",
"hgvs_p": "p.Val142Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556858.1",
"strand": false,
"transcript": "ENST00000886799.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 211,
"aa_ref": "V",
"aa_start": 142,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2052,
"cdna_start": 591,
"cds_end": null,
"cds_length": 636,
"cds_start": 424,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000886800.1",
"gene_hgnc_id": 949,
"gene_symbol": "BAK1",
"hgvs_c": "c.424G>A",
"hgvs_p": "p.Val142Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556859.1",
"strand": false,
"transcript": "ENST00000886800.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 211,
"aa_ref": "V",
"aa_start": 142,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2291,
"cdna_start": 828,
"cds_end": null,
"cds_length": 636,
"cds_start": 424,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000938017.1",
"gene_hgnc_id": 949,
"gene_symbol": "BAK1",
"hgvs_c": "c.424G>A",
"hgvs_p": "p.Val142Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608076.1",
"strand": false,
"transcript": "ENST00000938017.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 211,
"aa_ref": "V",
"aa_start": 142,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1966,
"cdna_start": 508,
"cds_end": null,
"cds_length": 636,
"cds_start": 424,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000938020.1",
"gene_hgnc_id": 949,
"gene_symbol": "BAK1",
"hgvs_c": "c.424G>A",
"hgvs_p": "p.Val142Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608078.1",
"strand": false,
"transcript": "ENST00000938020.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 211,
"aa_ref": "V",
"aa_start": 142,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2198,
"cdna_start": 738,
"cds_end": null,
"cds_length": 636,
"cds_start": 424,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000963350.1",
"gene_hgnc_id": 949,
"gene_symbol": "BAK1",
"hgvs_c": "c.424G>A",
"hgvs_p": "p.Val142Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633409.1",
"strand": false,
"transcript": "ENST00000963350.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 211,
"aa_ref": "V",
"aa_start": 142,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2099,
"cdna_start": 636,
"cds_end": null,
"cds_length": 636,
"cds_start": 424,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000963352.1",
"gene_hgnc_id": 949,
"gene_symbol": "BAK1",
"hgvs_c": "c.424G>A",
"hgvs_p": "p.Val142Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633411.1",
"strand": false,
"transcript": "ENST00000963352.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 211,
"aa_ref": "V",
"aa_start": 142,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2165,
"cdna_start": 704,
"cds_end": null,
"cds_length": 636,
"cds_start": 424,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000963353.1",
"gene_hgnc_id": 949,
"gene_symbol": "BAK1",
"hgvs_c": "c.424G>A",
"hgvs_p": "p.Val142Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633412.1",
"strand": false,
"transcript": "ENST00000963353.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 211,
"aa_ref": "V",
"aa_start": 142,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2281,
"cdna_start": 818,
"cds_end": null,
"cds_length": 636,
"cds_start": 424,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_011514779.4",
"gene_hgnc_id": 949,
"gene_symbol": "BAK1",
"hgvs_c": "c.424G>A",
"hgvs_p": "p.Val142Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011513081.1",
"strand": false,
"transcript": "XM_011514779.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 152,
"aa_ref": "V",
"aa_start": 83,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1850,
"cdna_start": 387,
"cds_end": null,
"cds_length": 459,
"cds_start": 247,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_011514780.2",
"gene_hgnc_id": 949,
"gene_symbol": "BAK1",
"hgvs_c": "c.247G>A",
"hgvs_p": "p.Val83Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011513082.1",
"strand": false,
"transcript": "XM_011514780.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 152,
"aa_ref": "V",
"aa_start": 83,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1773,
"cdna_start": 310,
"cds_end": null,
"cds_length": 459,
"cds_start": 247,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047419196.1",
"gene_hgnc_id": 949,
"gene_symbol": "BAK1",
"hgvs_c": "c.247G>A",
"hgvs_p": "p.Val83Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275152.1",
"strand": false,
"transcript": "XM_047419196.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1270,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000612409.2",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000293518",
"hgvs_c": "n.249-1210C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000612409.2",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1399,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000738005.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000293518",
"hgvs_c": "n.129-1210C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000738005.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1395,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000738006.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000293518",
"hgvs_c": "n.122-1210C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000738006.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2007,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000738007.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000293518",
"hgvs_c": "n.284-1210C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000738007.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1285,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000738026.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000293518",
"hgvs_c": "n.289-1210C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000738026.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 186,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 938,
"cdna_start": null,
"cds_end": null,
"cds_length": 561,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047419194.1",
"gene_hgnc_id": 949,
"gene_symbol": "BAK1",
"hgvs_c": "c.*174G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275150.1",
"strand": true,
"transcript": "XM_047419194.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs376712748",
"effect": "missense_variant",
"frequency_reference_population": 0.00009603279,
"gene_hgnc_id": 949,
"gene_symbol": "BAK1",
"gnomad_exomes_ac": 136,
"gnomad_exomes_af": 0.0000930322,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 19,
"gnomad_genomes_af": 0.000124859,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": 2.884,
"pos": 33574141,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.045,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.029999999329447746,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.03,
"transcript": "NM_001188.4"
}
]
}