← 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: 11-44107724-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=44107724&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 7,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "EXT2",
"hgnc_id": 3513,
"hgvs_c": "c.111G>A",
"hgvs_p": "p.Ser37Ser",
"inheritance_mode": "AD,AR",
"pathogenic_score": 0,
"score": -7,
"transcript": "NM_000401.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7",
"acmg_score": -7,
"allele_count_reference_population": 22,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.47,
"chr": "11",
"clinvar_classification": "Likely benign",
"clinvar_disease": " multiple, type 2,Exostoses",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.4699999988079071,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 718,
"aa_ref": "S",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10037,
"cdna_start": 217,
"cds_end": null,
"cds_length": 2157,
"cds_start": 12,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_207122.2",
"gene_hgnc_id": 3513,
"gene_symbol": "EXT2",
"hgvs_c": "c.12G>A",
"hgvs_p": "p.Ser4Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000533608.7",
"protein_coding": true,
"protein_id": "NP_997005.1",
"strand": true,
"transcript": "NM_207122.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 718,
"aa_ref": "S",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 10037,
"cdna_start": 217,
"cds_end": null,
"cds_length": 2157,
"cds_start": 12,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000533608.7",
"gene_hgnc_id": 3513,
"gene_symbol": "EXT2",
"hgvs_c": "c.12G>A",
"hgvs_p": "p.Ser4Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_207122.2",
"protein_coding": true,
"protein_id": "ENSP00000431173.2",
"strand": true,
"transcript": "ENST00000533608.7",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 728,
"aa_ref": "S",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2997,
"cdna_start": 178,
"cds_end": null,
"cds_length": 2187,
"cds_start": 12,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000358681.8",
"gene_hgnc_id": 3513,
"gene_symbol": "EXT2",
"hgvs_c": "c.12G>A",
"hgvs_p": "p.Ser4Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000351509.4",
"strand": true,
"transcript": "ENST00000358681.8",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 718,
"aa_ref": "S",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3452,
"cdna_start": 169,
"cds_end": null,
"cds_length": 2157,
"cds_start": 12,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000343631.4",
"gene_hgnc_id": 3513,
"gene_symbol": "EXT2",
"hgvs_c": "c.12G>A",
"hgvs_p": "p.Ser4Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000342656.3",
"strand": true,
"transcript": "ENST00000343631.4",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 718,
"aa_ref": "S",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5288,
"cdna_start": 256,
"cds_end": null,
"cds_length": 2157,
"cds_start": 12,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000395673.8",
"gene_hgnc_id": 3513,
"gene_symbol": "EXT2",
"hgvs_c": "c.12G>A",
"hgvs_p": "p.Ser4Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000379032.4",
"strand": true,
"transcript": "ENST00000395673.8",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 751,
"aa_ref": "S",
"aa_start": 37,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3455,
"cdna_start": 167,
"cds_end": null,
"cds_length": 2256,
"cds_start": 111,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_000401.3",
"gene_hgnc_id": 3513,
"gene_symbol": "EXT2",
"hgvs_c": "c.111G>A",
"hgvs_p": "p.Ser37Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_000392.3",
"strand": true,
"transcript": "NM_000401.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 728,
"aa_ref": "S",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10067,
"cdna_start": 217,
"cds_end": null,
"cds_length": 2187,
"cds_start": 12,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001178083.3",
"gene_hgnc_id": 3513,
"gene_symbol": "EXT2",
"hgvs_c": "c.12G>A",
"hgvs_p": "p.Ser4Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001171554.1",
"strand": true,
"transcript": "NM_001178083.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 718,
"aa_ref": "S",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9986,
"cdna_start": 166,
"cds_end": null,
"cds_length": 2157,
"cds_start": 12,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001389628.1",
"gene_hgnc_id": 3513,
"gene_symbol": "EXT2",
"hgvs_c": "c.12G>A",
"hgvs_p": "p.Ser4Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001376557.1",
"strand": true,
"transcript": "NM_001389628.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 718,
"aa_ref": "S",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10076,
"cdna_start": 256,
"cds_end": null,
"cds_length": 2157,
"cds_start": 12,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001389630.1",
"gene_hgnc_id": 3513,
"gene_symbol": "EXT2",
"hgvs_c": "c.12G>A",
"hgvs_p": "p.Ser4Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001376559.1",
"strand": true,
"transcript": "NM_001389630.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 718,
"aa_ref": "S",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5468,
"cdna_start": 436,
"cds_end": null,
"cds_length": 2157,
"cds_start": 12,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000683000.1",
"gene_hgnc_id": 3513,
"gene_symbol": "EXT2",
"hgvs_c": "c.12G>A",
"hgvs_p": "p.Ser4Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508361.1",
"strand": true,
"transcript": "ENST00000683000.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 718,
"aa_ref": "S",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4084,
"cdna_start": 428,
"cds_end": null,
"cds_length": 2157,
"cds_start": 12,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000860016.1",
"gene_hgnc_id": 3513,
"gene_symbol": "EXT2",
"hgvs_c": "c.12G>A",
"hgvs_p": "p.Ser4Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530075.1",
"strand": true,
"transcript": "ENST00000860016.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 718,
"aa_ref": "S",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3633,
"cdna_start": 348,
"cds_end": null,
"cds_length": 2157,
"cds_start": 12,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000860017.1",
"gene_hgnc_id": 3513,
"gene_symbol": "EXT2",
"hgvs_c": "c.12G>A",
"hgvs_p": "p.Ser4Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530076.1",
"strand": true,
"transcript": "ENST00000860017.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 718,
"aa_ref": "S",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3578,
"cdna_start": 297,
"cds_end": null,
"cds_length": 2157,
"cds_start": 12,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000860018.1",
"gene_hgnc_id": 3513,
"gene_symbol": "EXT2",
"hgvs_c": "c.12G>A",
"hgvs_p": "p.Ser4Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530077.1",
"strand": true,
"transcript": "ENST00000860018.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 718,
"aa_ref": "S",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3667,
"cdna_start": 384,
"cds_end": null,
"cds_length": 2157,
"cds_start": 12,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000860019.1",
"gene_hgnc_id": 3513,
"gene_symbol": "EXT2",
"hgvs_c": "c.12G>A",
"hgvs_p": "p.Ser4Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530078.1",
"strand": true,
"transcript": "ENST00000860019.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 718,
"aa_ref": "S",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3138,
"cdna_start": 350,
"cds_end": null,
"cds_length": 2157,
"cds_start": 12,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000860020.1",
"gene_hgnc_id": 3513,
"gene_symbol": "EXT2",
"hgvs_c": "c.12G>A",
"hgvs_p": "p.Ser4Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530079.1",
"strand": true,
"transcript": "ENST00000860020.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 718,
"aa_ref": "S",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3002,
"cdna_start": 214,
"cds_end": null,
"cds_length": 2157,
"cds_start": 12,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000860021.1",
"gene_hgnc_id": 3513,
"gene_symbol": "EXT2",
"hgvs_c": "c.12G>A",
"hgvs_p": "p.Ser4Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530080.1",
"strand": true,
"transcript": "ENST00000860021.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 718,
"aa_ref": "S",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3692,
"cdna_start": 408,
"cds_end": null,
"cds_length": 2157,
"cds_start": 12,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000958404.1",
"gene_hgnc_id": 3513,
"gene_symbol": "EXT2",
"hgvs_c": "c.12G>A",
"hgvs_p": "p.Ser4Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628463.1",
"strand": true,
"transcript": "ENST00000958404.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 718,
"aa_ref": "S",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5060,
"cdna_start": 2270,
"cds_end": null,
"cds_length": 2157,
"cds_start": 12,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000958405.1",
"gene_hgnc_id": 3513,
"gene_symbol": "EXT2",
"hgvs_c": "c.12G>A",
"hgvs_p": "p.Ser4Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628464.1",
"strand": true,
"transcript": "ENST00000958405.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 670,
"aa_ref": "S",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2853,
"cdna_start": 213,
"cds_end": null,
"cds_length": 2013,
"cds_start": 12,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000860022.1",
"gene_hgnc_id": 3513,
"gene_symbol": "EXT2",
"hgvs_c": "c.12G>A",
"hgvs_p": "p.Ser4Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530081.1",
"strand": true,
"transcript": "ENST00000860022.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 640,
"aa_ref": "S",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5015,
"cdna_start": 217,
"cds_end": null,
"cds_length": 1923,
"cds_start": 12,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000682359.1",
"gene_hgnc_id": 3513,
"gene_symbol": "EXT2",
"hgvs_c": "c.12G>A",
"hgvs_p": "p.Ser4Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508226.1",
"strand": true,
"transcript": "ENST00000682359.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 606,
"aa_ref": "S",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4928,
"cdna_start": 232,
"cds_end": null,
"cds_length": 1821,
"cds_start": 12,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000684533.1",
"gene_hgnc_id": 3513,
"gene_symbol": "EXT2",
"hgvs_c": "c.12G>A",
"hgvs_p": "p.Ser4Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507915.1",
"strand": true,
"transcript": "ENST00000684533.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 764,
"aa_ref": "S",
"aa_start": 50,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10026,
"cdna_start": 206,
"cds_end": null,
"cds_length": 2295,
"cds_start": 150,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_011519950.2",
"gene_hgnc_id": 3513,
"gene_symbol": "EXT2",
"hgvs_c": "c.150G>A",
"hgvs_p": "p.Ser50Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011518252.1",
"strand": true,
"transcript": "XM_011519950.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 736,
"aa_ref": "S",
"aa_start": 22,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10198,
"cdna_start": 378,
"cds_end": null,
"cds_length": 2211,
"cds_start": 66,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_047426528.1",
"gene_hgnc_id": 3513,
"gene_symbol": "EXT2",
"hgvs_c": "c.66G>A",
"hgvs_p": "p.Ser22Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047282484.1",
"strand": true,
"transcript": "XM_047426528.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 736,
"aa_ref": "S",
"aa_start": 22,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10243,
"cdna_start": 423,
"cds_end": null,
"cds_length": 2211,
"cds_start": 66,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047426529.1",
"gene_hgnc_id": 3513,
"gene_symbol": "EXT2",
"hgvs_c": "c.66G>A",
"hgvs_p": "p.Ser22Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047282485.1",
"strand": true,
"transcript": "XM_047426529.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 718,
"aa_ref": "S",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9882,
"cdna_start": 62,
"cds_end": null,
"cds_length": 2157,
"cds_start": 12,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_047426530.1",
"gene_hgnc_id": 3513,
"gene_symbol": "EXT2",
"hgvs_c": "c.12G>A",
"hgvs_p": "p.Ser4Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047282486.1",
"strand": true,
"transcript": "XM_047426530.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 176,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3985,
"cdna_start": null,
"cds_end": null,
"cds_length": 531,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000682711.1",
"gene_hgnc_id": 3513,
"gene_symbol": "EXT2",
"hgvs_c": "c.-544+11872G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506803.1",
"strand": true,
"transcript": "ENST00000682711.1",
"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": 1838,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000531161.6",
"gene_hgnc_id": 3513,
"gene_symbol": "EXT2",
"hgvs_c": "n.171G>A",
"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": "ENST00000531161.6",
"transcript_support_level": 4
},
{
"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": 5430,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000682815.1",
"gene_hgnc_id": 3513,
"gene_symbol": "EXT2",
"hgvs_c": "n.12G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000507234.1",
"strand": true,
"transcript": "ENST00000682815.1",
"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": 5028,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000682947.1",
"gene_hgnc_id": 3513,
"gene_symbol": "EXT2",
"hgvs_c": "n.186G>A",
"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": "ENST00000682947.1",
"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": 4392,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000682993.1",
"gene_hgnc_id": 3513,
"gene_symbol": "EXT2",
"hgvs_c": "n.12G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000507580.1",
"strand": true,
"transcript": "ENST00000682993.1",
"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": 5461,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000683299.1",
"gene_hgnc_id": 3513,
"gene_symbol": "EXT2",
"hgvs_c": "n.429G>A",
"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": "ENST00000683299.1",
"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": 5109,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000683870.1",
"gene_hgnc_id": 3513,
"gene_symbol": "EXT2",
"hgvs_c": "n.12G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000507922.1",
"strand": true,
"transcript": "ENST00000683870.1",
"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": 7605,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000683881.1",
"gene_hgnc_id": 3513,
"gene_symbol": "EXT2",
"hgvs_c": "n.2573G>A",
"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": "ENST00000683881.1",
"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": 5059,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000684039.1",
"gene_hgnc_id": 3513,
"gene_symbol": "EXT2",
"hgvs_c": "n.12G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000507677.1",
"strand": true,
"transcript": "ENST00000684039.1",
"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": 5478,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000684124.1",
"gene_hgnc_id": 3513,
"gene_symbol": "EXT2",
"hgvs_c": "n.12G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000508332.1",
"strand": true,
"transcript": "ENST00000684124.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs764011677",
"effect": "synonymous_variant",
"frequency_reference_population": 0.000015049506,
"gene_hgnc_id": 3513,
"gene_symbol": "EXT2",
"gnomad_exomes_ac": 22,
"gnomad_exomes_af": 0.0000150495,
"gnomad_exomes_homalt": 0,
"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 benign",
"phenotype_combined": "Exostoses, multiple, type 2",
"phylop100way_prediction": "Benign",
"phylop100way_score": -0.466,
"pos": 44107724,
"ref": "G",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_000401.3"
}
]
}