← 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: 7-151781368-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=151781368&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 13,
"criteria": [
"BP4_Strong",
"BP6",
"BS1",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PRKAG2",
"hgnc_id": 9386,
"hgvs_c": "c.250C>T",
"hgvs_p": "p.Arg84Trp",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -13,
"transcript": "NM_001407021.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS1,BS2",
"acmg_score": -13,
"allele_count_reference_population": 146,
"alphamissense_prediction": null,
"alphamissense_score": 0.113,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.13,
"chr": "7",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Cardiomyopathy,Cardiovascular phenotype,Lethal congenital glycogen storage disease of heart,PRKAG2-related disorder,not provided,not specified",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:5",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.002591378754004836,
"computational_source_selected": "CardioboostCm",
"consequences": [
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 569,
"aa_ref": "R",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3279,
"cdna_start": 745,
"cds_end": null,
"cds_length": 1710,
"cds_start": 250,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_016203.4",
"gene_hgnc_id": 9386,
"gene_symbol": "PRKAG2",
"hgvs_c": "c.250C>T",
"hgvs_p": "p.Arg84Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000287878.9",
"protein_coding": true,
"protein_id": "NP_057287.2",
"strand": false,
"transcript": "NM_016203.4",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 569,
"aa_ref": "R",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3279,
"cdna_start": 745,
"cds_end": null,
"cds_length": 1710,
"cds_start": 250,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000287878.9",
"gene_hgnc_id": 9386,
"gene_symbol": "PRKAG2",
"hgvs_c": "c.250C>T",
"hgvs_p": "p.Arg84Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_016203.4",
"protein_coding": true,
"protein_id": "ENSP00000287878.3",
"strand": false,
"transcript": "ENST00000287878.9",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 525,
"aa_ref": "R",
"aa_start": 40,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2281,
"cdna_start": 561,
"cds_end": null,
"cds_length": 1578,
"cds_start": 118,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000392801.6",
"gene_hgnc_id": 9386,
"gene_symbol": "PRKAG2",
"hgvs_c": "c.118C>T",
"hgvs_p": "p.Arg40Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000376549.2",
"strand": false,
"transcript": "ENST00000392801.6",
"transcript_support_level": 1
},
{
"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": 1413,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000488258.5",
"gene_hgnc_id": 9386,
"gene_symbol": "PRKAG2",
"hgvs_c": "n.250C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000420783.1",
"strand": false,
"transcript": "ENST00000488258.5",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 619,
"aa_ref": "R",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6570,
"cdna_start": 745,
"cds_end": null,
"cds_length": 1860,
"cds_start": 250,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001407021.1",
"gene_hgnc_id": 9386,
"gene_symbol": "PRKAG2",
"hgvs_c": "c.250C>T",
"hgvs_p": "p.Arg84Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393950.1",
"strand": false,
"transcript": "NM_001407021.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 618,
"aa_ref": "R",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6567,
"cdna_start": 745,
"cds_end": null,
"cds_length": 1857,
"cds_start": 250,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001407022.1",
"gene_hgnc_id": 9386,
"gene_symbol": "PRKAG2",
"hgvs_c": "c.250C>T",
"hgvs_p": "p.Arg84Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393951.1",
"strand": false,
"transcript": "NM_001407022.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 568,
"aa_ref": "R",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3276,
"cdna_start": 745,
"cds_end": null,
"cds_length": 1707,
"cds_start": 250,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001407023.1",
"gene_hgnc_id": 9386,
"gene_symbol": "PRKAG2",
"hgvs_c": "c.250C>T",
"hgvs_p": "p.Arg84Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393952.1",
"strand": false,
"transcript": "NM_001407023.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 568,
"aa_ref": "R",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3326,
"cdna_start": 844,
"cds_end": null,
"cds_length": 1707,
"cds_start": 250,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000652321.2",
"gene_hgnc_id": 9386,
"gene_symbol": "PRKAG2",
"hgvs_c": "c.250C>T",
"hgvs_p": "p.Arg84Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498886.2",
"strand": false,
"transcript": "ENST00000652321.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 567,
"aa_ref": "R",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3664,
"cdna_start": 1137,
"cds_end": null,
"cds_length": 1704,
"cds_start": 250,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000867883.1",
"gene_hgnc_id": 9386,
"gene_symbol": "PRKAG2",
"hgvs_c": "c.250C>T",
"hgvs_p": "p.Arg84Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537942.1",
"strand": false,
"transcript": "ENST00000867883.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 566,
"aa_ref": "R",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3280,
"cdna_start": 745,
"cds_end": null,
"cds_length": 1701,
"cds_start": 250,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000867885.1",
"gene_hgnc_id": 9386,
"gene_symbol": "PRKAG2",
"hgvs_c": "c.250C>T",
"hgvs_p": "p.Arg84Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537944.1",
"strand": false,
"transcript": "ENST00000867885.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 525,
"aa_ref": "R",
"aa_start": 40,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3114,
"cdna_start": 580,
"cds_end": null,
"cds_length": 1578,
"cds_start": 118,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001040633.2",
"gene_hgnc_id": 9386,
"gene_symbol": "PRKAG2",
"hgvs_c": "c.118C>T",
"hgvs_p": "p.Arg40Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001035723.1",
"strand": false,
"transcript": "NM_001040633.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 525,
"aa_ref": "R",
"aa_start": 40,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3234,
"cdna_start": 700,
"cds_end": null,
"cds_length": 1578,
"cds_start": 118,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001407024.1",
"gene_hgnc_id": 9386,
"gene_symbol": "PRKAG2",
"hgvs_c": "c.118C>T",
"hgvs_p": "p.Arg40Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393953.1",
"strand": false,
"transcript": "NM_001407024.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 525,
"aa_ref": "R",
"aa_start": 40,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3011,
"cdna_start": 565,
"cds_end": null,
"cds_length": 1578,
"cds_start": 118,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000651764.1",
"gene_hgnc_id": 9386,
"gene_symbol": "PRKAG2",
"hgvs_c": "c.118C>T",
"hgvs_p": "p.Arg40Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498796.1",
"strand": false,
"transcript": "ENST00000651764.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 525,
"aa_ref": "R",
"aa_start": 40,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2809,
"cdna_start": 349,
"cds_end": null,
"cds_length": 1578,
"cds_start": 118,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000652159.1",
"gene_hgnc_id": 9386,
"gene_symbol": "PRKAG2",
"hgvs_c": "c.118C>T",
"hgvs_p": "p.Arg40Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499025.1",
"strand": false,
"transcript": "ENST00000652159.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 524,
"aa_ref": "R",
"aa_start": 40,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3111,
"cdna_start": 580,
"cds_end": null,
"cds_length": 1575,
"cds_start": 118,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001407026.1",
"gene_hgnc_id": 9386,
"gene_symbol": "PRKAG2",
"hgvs_c": "c.118C>T",
"hgvs_p": "p.Arg40Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393955.1",
"strand": false,
"transcript": "NM_001407026.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 524,
"aa_ref": "R",
"aa_start": 40,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3231,
"cdna_start": 700,
"cds_end": null,
"cds_length": 1575,
"cds_start": 118,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001407027.1",
"gene_hgnc_id": 9386,
"gene_symbol": "PRKAG2",
"hgvs_c": "c.118C>T",
"hgvs_p": "p.Arg40Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393956.1",
"strand": false,
"transcript": "NM_001407027.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 524,
"aa_ref": "R",
"aa_start": 40,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1984,
"cdna_start": 367,
"cds_end": null,
"cds_length": 1575,
"cds_start": 118,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000652047.1",
"gene_hgnc_id": 9386,
"gene_symbol": "PRKAG2",
"hgvs_c": "c.118C>T",
"hgvs_p": "p.Arg40Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499111.1",
"strand": false,
"transcript": "ENST00000652047.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 522,
"aa_ref": "R",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3205,
"cdna_start": 810,
"cds_end": null,
"cds_length": 1569,
"cds_start": 250,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000867884.1",
"gene_hgnc_id": 9386,
"gene_symbol": "PRKAG2",
"hgvs_c": "c.250C>T",
"hgvs_p": "p.Arg84Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537943.1",
"strand": false,
"transcript": "ENST00000867884.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 473,
"aa_ref": "R",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2991,
"cdna_start": 745,
"cds_end": null,
"cds_length": 1422,
"cds_start": 250,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001407030.1",
"gene_hgnc_id": 9386,
"gene_symbol": "PRKAG2",
"hgvs_c": "c.250C>T",
"hgvs_p": "p.Arg84Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393959.1",
"strand": false,
"transcript": "NM_001407030.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 472,
"aa_ref": "R",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2988,
"cdna_start": 745,
"cds_end": null,
"cds_length": 1419,
"cds_start": 250,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001407031.1",
"gene_hgnc_id": 9386,
"gene_symbol": "PRKAG2",
"hgvs_c": "c.250C>T",
"hgvs_p": "p.Arg84Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393960.1",
"strand": false,
"transcript": "NM_001407031.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 461,
"aa_ref": "R",
"aa_start": 40,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2922,
"cdna_start": 580,
"cds_end": null,
"cds_length": 1386,
"cds_start": 118,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001407033.1",
"gene_hgnc_id": 9386,
"gene_symbol": "PRKAG2",
"hgvs_c": "c.118C>T",
"hgvs_p": "p.Arg40Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393962.1",
"strand": false,
"transcript": "NM_001407033.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 276,
"aa_ref": "R",
"aa_start": 40,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1594,
"cdna_start": 601,
"cds_end": null,
"cds_length": 831,
"cds_start": 118,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000652707.1",
"gene_hgnc_id": 9386,
"gene_symbol": "PRKAG2",
"hgvs_c": "c.118C>T",
"hgvs_p": "p.Arg40Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498954.1",
"strand": false,
"transcript": "ENST00000652707.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 615,
"aa_ref": "R",
"aa_start": 80,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6094,
"cdna_start": 269,
"cds_end": null,
"cds_length": 1848,
"cds_start": 238,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_006716021.3",
"gene_hgnc_id": 9386,
"gene_symbol": "PRKAG2",
"hgvs_c": "c.238C>T",
"hgvs_p": "p.Arg80Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006716084.1",
"strand": false,
"transcript": "XM_006716021.3",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 614,
"aa_ref": "R",
"aa_start": 80,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6091,
"cdna_start": 269,
"cds_end": null,
"cds_length": 1845,
"cds_start": 238,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_011516282.2",
"gene_hgnc_id": 9386,
"gene_symbol": "PRKAG2",
"hgvs_c": "c.238C>T",
"hgvs_p": "p.Arg80Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011514584.1",
"strand": false,
"transcript": "XM_011516282.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 575,
"aa_ref": "R",
"aa_start": 40,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6690,
"cdna_start": 865,
"cds_end": null,
"cds_length": 1728,
"cds_start": 118,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047420448.1",
"gene_hgnc_id": 9386,
"gene_symbol": "PRKAG2",
"hgvs_c": "c.118C>T",
"hgvs_p": "p.Arg40Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047276404.1",
"strand": false,
"transcript": "XM_047420448.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 565,
"aa_ref": "R",
"aa_start": 80,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2803,
"cdna_start": 269,
"cds_end": null,
"cds_length": 1698,
"cds_start": 238,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_011516283.2",
"gene_hgnc_id": 9386,
"gene_symbol": "PRKAG2",
"hgvs_c": "c.238C>T",
"hgvs_p": "p.Arg80Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011514585.1",
"strand": false,
"transcript": "XM_011516283.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 564,
"aa_ref": "R",
"aa_start": 80,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2800,
"cdna_start": 269,
"cds_end": null,
"cds_length": 1695,
"cds_start": 238,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_011516284.2",
"gene_hgnc_id": 9386,
"gene_symbol": "PRKAG2",
"hgvs_c": "c.238C>T",
"hgvs_p": "p.Arg80Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011514586.1",
"strand": false,
"transcript": "XM_011516284.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 463,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2762,
"cdna_start": null,
"cds_end": null,
"cds_length": 1392,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001407032.1",
"gene_hgnc_id": 9386,
"gene_symbol": "PRKAG2",
"hgvs_c": "c.148+33048C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393961.1",
"strand": false,
"transcript": "NM_001407032.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 328,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2770,
"cdna_start": null,
"cds_end": null,
"cds_length": 987,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000651378.1",
"gene_hgnc_id": 9386,
"gene_symbol": "PRKAG2",
"hgvs_c": "c.-258+33048C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499103.1",
"strand": false,
"transcript": "ENST00000651378.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 308,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2221,
"cdna_start": null,
"cds_end": null,
"cds_length": 927,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000650858.1",
"gene_hgnc_id": 9386,
"gene_symbol": "PRKAG2",
"hgvs_c": "c.-248+33048C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498384.1",
"strand": false,
"transcript": "ENST00000650858.1",
"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": 575,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000461529.1",
"gene_hgnc_id": 9386,
"gene_symbol": "PRKAG2",
"hgvs_c": "n.269C>T",
"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": "ENST00000461529.1",
"transcript_support_level": 4
},
{
"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": 1670,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000481434.5",
"gene_hgnc_id": 9386,
"gene_symbol": "PRKAG2",
"hgvs_c": "n.755C>T",
"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": "ENST00000481434.5",
"transcript_support_level": 2
},
{
"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": 5088,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000650948.1",
"gene_hgnc_id": 9386,
"gene_symbol": "PRKAG2",
"hgvs_c": "n.365C>T",
"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": "ENST00000650948.1",
"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": 2322,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000651188.1",
"gene_hgnc_id": 9386,
"gene_symbol": "PRKAG2",
"hgvs_c": "n.118C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000498557.1",
"strand": false,
"transcript": "ENST00000651188.1",
"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": 3139,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 17,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000651303.1",
"gene_hgnc_id": 9386,
"gene_symbol": "PRKAG2",
"hgvs_c": "n.118C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000498428.1",
"strand": false,
"transcript": "ENST00000651303.1",
"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": 2651,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000652714.1",
"gene_hgnc_id": 9386,
"gene_symbol": "PRKAG2",
"hgvs_c": "n.423C>T",
"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": "ENST00000652714.1",
"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": 2885,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000651836.1",
"gene_hgnc_id": 9386,
"gene_symbol": "PRKAG2",
"hgvs_c": "n.-6C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000499156.1",
"strand": true,
"transcript": "ENST00000651836.1",
"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": 3247,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000652136.1",
"gene_hgnc_id": 9386,
"gene_symbol": "PRKAG2",
"hgvs_c": "n.-15C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000652136.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs61746358",
"effect": "missense_variant",
"frequency_reference_population": 0.00009051401,
"gene_hgnc_id": 9386,
"gene_symbol": "PRKAG2",
"gnomad_exomes_ac": 70,
"gnomad_exomes_af": 0.0000479216,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 76,
"gnomad_genomes_af": 0.000499041,
"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": "Conflicting classifications of pathogenicity",
"phenotype_combined": "not specified|Lethal congenital glycogen storage disease of heart|not provided|Cardiomyopathy|Cardiovascular phenotype|PRKAG2-related disorder",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 7.104,
"pos": 151781368,
"ref": "G",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.336,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001407021.1"
}
]
}