← 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: 17-81511392-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=81511392&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PM2",
"PP3_Strong",
"PP5_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ACTG1",
"hgnc_id": 144,
"hgvs_c": "c.598T>A",
"hgvs_p": "p.Phe200Ile",
"inheritance_mode": "AD",
"pathogenic_score": 10,
"score": 10,
"transcript": "NM_001614.5",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PP3_Strong,PP5_Moderate",
"acmg_score": 10,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.9882,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.3,
"chr": "17",
"clinvar_classification": "Likely pathogenic",
"clinvar_disease": "Baraitser-winter syndrome 2",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9751225709915161,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 375,
"aa_ref": "F",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1919,
"cdna_start": 670,
"cds_end": null,
"cds_length": 1128,
"cds_start": 598,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001614.5",
"gene_hgnc_id": 144,
"gene_symbol": "ACTG1",
"hgvs_c": "c.598T>A",
"hgvs_p": "p.Phe200Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000573283.7",
"protein_coding": true,
"protein_id": "NP_001605.1",
"strand": false,
"transcript": "NM_001614.5",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 375,
"aa_ref": "F",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1919,
"cdna_start": 670,
"cds_end": null,
"cds_length": 1128,
"cds_start": 598,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000573283.7",
"gene_hgnc_id": 144,
"gene_symbol": "ACTG1",
"hgvs_c": "c.598T>A",
"hgvs_p": "p.Phe200Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001614.5",
"protein_coding": true,
"protein_id": "ENSP00000458435.1",
"strand": false,
"transcript": "ENST00000573283.7",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 375,
"aa_ref": "F",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2256,
"cdna_start": 1025,
"cds_end": null,
"cds_length": 1128,
"cds_start": 598,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000575842.5",
"gene_hgnc_id": 144,
"gene_symbol": "ACTG1",
"hgvs_c": "c.598T>A",
"hgvs_p": "p.Phe200Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000458162.1",
"strand": false,
"transcript": "ENST00000575842.5",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 375,
"aa_ref": "F",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1895,
"cdna_start": 651,
"cds_end": null,
"cds_length": 1128,
"cds_start": 598,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000615544.5",
"gene_hgnc_id": 144,
"gene_symbol": "ACTG1",
"hgvs_c": "c.598T>A",
"hgvs_p": "p.Phe200Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000477968.1",
"strand": false,
"transcript": "ENST00000615544.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2241,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000574671.6",
"gene_hgnc_id": 144,
"gene_symbol": "ACTG1",
"hgvs_c": "n.998T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000574671.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1698,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000576209.5",
"gene_hgnc_id": 144,
"gene_symbol": "ACTG1",
"hgvs_c": "n.483T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000576209.5",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 380,
"aa_ref": "F",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1929,
"cdna_start": 665,
"cds_end": null,
"cds_length": 1143,
"cds_start": 598,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000915975.1",
"gene_hgnc_id": 144,
"gene_symbol": "ACTG1",
"hgvs_c": "c.598T>A",
"hgvs_p": "p.Phe200Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586034.1",
"strand": false,
"transcript": "ENST00000915975.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 377,
"aa_ref": "F",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1933,
"cdna_start": 678,
"cds_end": null,
"cds_length": 1134,
"cds_start": 598,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000915968.1",
"gene_hgnc_id": 144,
"gene_symbol": "ACTG1",
"hgvs_c": "c.598T>A",
"hgvs_p": "p.Phe200Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586027.1",
"strand": false,
"transcript": "ENST00000915968.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 375,
"aa_ref": "F",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2038,
"cdna_start": 789,
"cds_end": null,
"cds_length": 1128,
"cds_start": 598,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001199954.3",
"gene_hgnc_id": 144,
"gene_symbol": "ACTG1",
"hgvs_c": "c.598T>A",
"hgvs_p": "p.Phe200Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001186883.1",
"strand": false,
"transcript": "NM_001199954.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 375,
"aa_ref": "F",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2052,
"cdna_start": 808,
"cds_end": null,
"cds_length": 1128,
"cds_start": 598,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000570382.2",
"gene_hgnc_id": 144,
"gene_symbol": "ACTG1",
"hgvs_c": "c.598T>A",
"hgvs_p": "p.Phe200Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000466346.2",
"strand": false,
"transcript": "ENST00000570382.2",
"transcript_support_level": 4
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 375,
"aa_ref": "F",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1449,
"cdna_start": 919,
"cds_end": null,
"cds_length": 1128,
"cds_start": 598,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000571721.6",
"gene_hgnc_id": 144,
"gene_symbol": "ACTG1",
"hgvs_c": "c.598T>A",
"hgvs_p": "p.Phe200Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000460660.2",
"strand": false,
"transcript": "ENST00000571721.6",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 375,
"aa_ref": "F",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2001,
"cdna_start": 789,
"cds_end": null,
"cds_length": 1128,
"cds_start": 598,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000575087.5",
"gene_hgnc_id": 144,
"gene_symbol": "ACTG1",
"hgvs_c": "c.598T>A",
"hgvs_p": "p.Phe200Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000459124.1",
"strand": false,
"transcript": "ENST00000575087.5",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 375,
"aa_ref": "F",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1228,
"cdna_start": 698,
"cds_end": null,
"cds_length": 1128,
"cds_start": 598,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000575659.6",
"gene_hgnc_id": 144,
"gene_symbol": "ACTG1",
"hgvs_c": "c.598T>A",
"hgvs_p": "p.Phe200Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000459119.2",
"strand": false,
"transcript": "ENST00000575659.6",
"transcript_support_level": 3
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 375,
"aa_ref": "F",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1340,
"cdna_start": 810,
"cds_end": null,
"cds_length": 1128,
"cds_start": 598,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000575994.6",
"gene_hgnc_id": 144,
"gene_symbol": "ACTG1",
"hgvs_c": "c.598T>A",
"hgvs_p": "p.Phe200Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000460464.2",
"strand": false,
"transcript": "ENST00000575994.6",
"transcript_support_level": 3
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 375,
"aa_ref": "F",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1919,
"cdna_start": 675,
"cds_end": null,
"cds_length": 1128,
"cds_start": 598,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000679480.1",
"gene_hgnc_id": 144,
"gene_symbol": "ACTG1",
"hgvs_c": "c.598T>A",
"hgvs_p": "p.Phe200Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506201.1",
"strand": false,
"transcript": "ENST00000679480.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 375,
"aa_ref": "F",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2491,
"cdna_start": 684,
"cds_end": null,
"cds_length": 1128,
"cds_start": 598,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000681052.1",
"gene_hgnc_id": 144,
"gene_symbol": "ACTG1",
"hgvs_c": "c.598T>A",
"hgvs_p": "p.Phe200Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505060.1",
"strand": false,
"transcript": "ENST00000681052.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 375,
"aa_ref": "F",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2146,
"cdna_start": 901,
"cds_end": null,
"cds_length": 1128,
"cds_start": 598,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000863045.1",
"gene_hgnc_id": 144,
"gene_symbol": "ACTG1",
"hgvs_c": "c.598T>A",
"hgvs_p": "p.Phe200Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533104.1",
"strand": false,
"transcript": "ENST00000863045.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 375,
"aa_ref": "F",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2009,
"cdna_start": 760,
"cds_end": null,
"cds_length": 1128,
"cds_start": 598,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000863046.1",
"gene_hgnc_id": 144,
"gene_symbol": "ACTG1",
"hgvs_c": "c.598T>A",
"hgvs_p": "p.Phe200Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533105.1",
"strand": false,
"transcript": "ENST00000863046.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 375,
"aa_ref": "F",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1947,
"cdna_start": 698,
"cds_end": null,
"cds_length": 1128,
"cds_start": 598,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000915961.1",
"gene_hgnc_id": 144,
"gene_symbol": "ACTG1",
"hgvs_c": "c.598T>A",
"hgvs_p": "p.Phe200Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586020.1",
"strand": false,
"transcript": "ENST00000915961.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 375,
"aa_ref": "F",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2024,
"cdna_start": 775,
"cds_end": null,
"cds_length": 1128,
"cds_start": 598,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000915962.1",
"gene_hgnc_id": 144,
"gene_symbol": "ACTG1",
"hgvs_c": "c.598T>A",
"hgvs_p": "p.Phe200Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586021.1",
"strand": false,
"transcript": "ENST00000915962.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 375,
"aa_ref": "F",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2629,
"cdna_start": 1380,
"cds_end": null,
"cds_length": 1128,
"cds_start": 598,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000915963.1",
"gene_hgnc_id": 144,
"gene_symbol": "ACTG1",
"hgvs_c": "c.598T>A",
"hgvs_p": "p.Phe200Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586022.1",
"strand": false,
"transcript": "ENST00000915963.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 375,
"aa_ref": "F",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2783,
"cdna_start": 1534,
"cds_end": null,
"cds_length": 1128,
"cds_start": 598,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000915964.1",
"gene_hgnc_id": 144,
"gene_symbol": "ACTG1",
"hgvs_c": "c.598T>A",
"hgvs_p": "p.Phe200Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586023.1",
"strand": false,
"transcript": "ENST00000915964.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 375,
"aa_ref": "F",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1889,
"cdna_start": 644,
"cds_end": null,
"cds_length": 1128,
"cds_start": 598,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000915965.1",
"gene_hgnc_id": 144,
"gene_symbol": "ACTG1",
"hgvs_c": "c.598T>A",
"hgvs_p": "p.Phe200Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586024.1",
"strand": false,
"transcript": "ENST00000915965.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 375,
"aa_ref": "F",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1919,
"cdna_start": 670,
"cds_end": null,
"cds_length": 1128,
"cds_start": 598,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000915967.1",
"gene_hgnc_id": 144,
"gene_symbol": "ACTG1",
"hgvs_c": "c.598T>A",
"hgvs_p": "p.Phe200Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586026.1",
"strand": false,
"transcript": "ENST00000915967.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 375,
"aa_ref": "F",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1907,
"cdna_start": 657,
"cds_end": null,
"cds_length": 1128,
"cds_start": 598,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000915970.1",
"gene_hgnc_id": 144,
"gene_symbol": "ACTG1",
"hgvs_c": "c.598T>A",
"hgvs_p": "p.Phe200Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586029.1",
"strand": false,
"transcript": "ENST00000915970.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 375,
"aa_ref": "F",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2156,
"cdna_start": 913,
"cds_end": null,
"cds_length": 1128,
"cds_start": 598,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000915976.1",
"gene_hgnc_id": 144,
"gene_symbol": "ACTG1",
"hgvs_c": "c.598T>A",
"hgvs_p": "p.Phe200Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586035.1",
"strand": false,
"transcript": "ENST00000915976.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 375,
"aa_ref": "F",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2383,
"cdna_start": 1134,
"cds_end": null,
"cds_length": 1128,
"cds_start": 598,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000954444.1",
"gene_hgnc_id": 144,
"gene_symbol": "ACTG1",
"hgvs_c": "c.598T>A",
"hgvs_p": "p.Phe200Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624503.1",
"strand": false,
"transcript": "ENST00000954444.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 371,
"aa_ref": "F",
"aa_start": 196,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1906,
"cdna_start": 653,
"cds_end": null,
"cds_length": 1116,
"cds_start": 586,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000915969.1",
"gene_hgnc_id": 144,
"gene_symbol": "ACTG1",
"hgvs_c": "c.586T>A",
"hgvs_p": "p.Phe196Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586028.1",
"strand": false,
"transcript": "ENST00000915969.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 367,
"aa_ref": "F",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1890,
"cdna_start": 641,
"cds_end": null,
"cds_length": 1104,
"cds_start": 574,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000915971.1",
"gene_hgnc_id": 144,
"gene_symbol": "ACTG1",
"hgvs_c": "c.574T>A",
"hgvs_p": "p.Phe192Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586030.1",
"strand": false,
"transcript": "ENST00000915971.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 366,
"aa_ref": "F",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1137,
"cdna_start": 607,
"cds_end": null,
"cds_length": 1101,
"cds_start": 571,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000644774.2",
"gene_hgnc_id": 144,
"gene_symbol": "ACTG1",
"hgvs_c": "c.571T>A",
"hgvs_p": "p.Phe191Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000493648.2",
"strand": false,
"transcript": "ENST00000644774.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 359,
"aa_ref": "F",
"aa_start": 184,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1890,
"cdna_start": 641,
"cds_end": null,
"cds_length": 1080,
"cds_start": 550,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000915966.1",
"gene_hgnc_id": 144,
"gene_symbol": "ACTG1",
"hgvs_c": "c.550T>A",
"hgvs_p": "p.Phe184Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586025.1",
"strand": false,
"transcript": "ENST00000915966.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 351,
"aa_ref": "F",
"aa_start": 176,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1128,
"cdna_start": 598,
"cds_end": null,
"cds_length": 1056,
"cds_start": 526,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000571691.6",
"gene_hgnc_id": 144,
"gene_symbol": "ACTG1",
"hgvs_c": "c.526T>A",
"hgvs_p": "p.Phe176Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000461407.2",
"strand": false,
"transcript": "ENST00000571691.6",
"transcript_support_level": 3
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 348,
"aa_ref": "F",
"aa_start": 173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1833,
"cdna_start": 584,
"cds_end": null,
"cds_length": 1047,
"cds_start": 517,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000915972.1",
"gene_hgnc_id": 144,
"gene_symbol": "ACTG1",
"hgvs_c": "c.517T>A",
"hgvs_p": "p.Phe173Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586031.1",
"strand": false,
"transcript": "ENST00000915972.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 344,
"aa_ref": "F",
"aa_start": 169,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1821,
"cdna_start": 572,
"cds_end": null,
"cds_length": 1035,
"cds_start": 505,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000915973.1",
"gene_hgnc_id": 144,
"gene_symbol": "ACTG1",
"hgvs_c": "c.505T>A",
"hgvs_p": "p.Phe169Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586032.1",
"strand": false,
"transcript": "ENST00000915973.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 295,
"aa_ref": "F",
"aa_start": 120,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1674,
"cdna_start": 425,
"cds_end": null,
"cds_length": 888,
"cds_start": 358,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000915974.1",
"gene_hgnc_id": 144,
"gene_symbol": "ACTG1",
"hgvs_c": "c.358T>A",
"hgvs_p": "p.Phe120Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586033.1",
"strand": false,
"transcript": "ENST00000915974.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2005,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000572105.7",
"gene_hgnc_id": 144,
"gene_symbol": "ACTG1",
"hgvs_c": "n.*42T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000462823.1",
"strand": false,
"transcript": "ENST00000572105.7",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1993,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000576214.3",
"gene_hgnc_id": 144,
"gene_symbol": "ACTG1",
"hgvs_c": "n.899T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000576214.3",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1880,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000576544.6",
"gene_hgnc_id": 144,
"gene_symbol": "ACTG1",
"hgvs_c": "n.598T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000461672.1",
"strand": false,
"transcript": "ENST00000576544.6",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1958,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000576917.5",
"gene_hgnc_id": 144,
"gene_symbol": "ACTG1",
"hgvs_c": "n.651T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000576917.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1895,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000679410.1",
"gene_hgnc_id": 144,
"gene_symbol": "ACTG1",
"hgvs_c": "n.722T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000679410.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2141,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000679535.1",
"gene_hgnc_id": 144,
"gene_symbol": "ACTG1",
"hgvs_c": "n.899T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000679535.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2185,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000679778.1",
"gene_hgnc_id": 144,
"gene_symbol": "ACTG1",
"hgvs_c": "n.598T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000505235.1",
"strand": false,
"transcript": "ENST00000679778.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1860,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000680227.1",
"gene_hgnc_id": 144,
"gene_symbol": "ACTG1",
"hgvs_c": "n.598T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000506253.1",
"strand": false,
"transcript": "ENST00000680227.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1842,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000680727.1",
"gene_hgnc_id": 144,
"gene_symbol": "ACTG1",
"hgvs_c": "n.598T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000505193.1",
"strand": false,
"transcript": "ENST00000680727.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1749,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000681092.1",
"gene_hgnc_id": 144,
"gene_symbol": "ACTG1",
"hgvs_c": "n.*402T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000506720.1",
"strand": false,
"transcript": "ENST00000681092.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1859,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000681842.1",
"gene_hgnc_id": 144,
"gene_symbol": "ACTG1",
"hgvs_c": "n.598T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000506126.1",
"strand": false,
"transcript": "ENST00000681842.1",
"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": 1770,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NR_037688.3",
"gene_hgnc_id": 144,
"gene_symbol": "ACTG1",
"hgvs_c": "n.670T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_037688.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2005,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000572105.7",
"gene_hgnc_id": 144,
"gene_symbol": "ACTG1",
"hgvs_c": "n.*42T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000462823.1",
"strand": false,
"transcript": "ENST00000572105.7",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1749,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000681092.1",
"gene_hgnc_id": 144,
"gene_symbol": "ACTG1",
"hgvs_c": "n.*402T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000506720.1",
"strand": false,
"transcript": "ENST00000681092.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs587780275",
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 144,
"gene_symbol": "ACTG1",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Likely pathogenic",
"phenotype_combined": "Baraitser-winter syndrome 2",
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 8.812,
"pos": 81511392,
"ref": "A",
"revel_prediction": "Pathogenic",
"revel_score": 0.921,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001614.5"
}
]
}