← 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: 11-44108232-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=44108232&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 44108232,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_000401.3",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXT2",
"gene_hgnc_id": 3513,
"hgvs_c": "c.520A>C",
"hgvs_p": "p.Met174Leu",
"transcript": "NM_207122.2",
"protein_id": "NP_997005.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 718,
"cds_start": 520,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000533608.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_207122.2"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXT2",
"gene_hgnc_id": 3513,
"hgvs_c": "c.520A>C",
"hgvs_p": "p.Met174Leu",
"transcript": "ENST00000533608.7",
"protein_id": "ENSP00000431173.2",
"transcript_support_level": 1,
"aa_start": 174,
"aa_end": null,
"aa_length": 718,
"cds_start": 520,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_207122.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000533608.7"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXT2",
"gene_hgnc_id": 3513,
"hgvs_c": "c.520A>C",
"hgvs_p": "p.Met174Leu",
"transcript": "ENST00000358681.8",
"protein_id": "ENSP00000351509.4",
"transcript_support_level": 1,
"aa_start": 174,
"aa_end": null,
"aa_length": 728,
"cds_start": 520,
"cds_end": null,
"cds_length": 2187,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358681.8"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXT2",
"gene_hgnc_id": 3513,
"hgvs_c": "c.520A>C",
"hgvs_p": "p.Met174Leu",
"transcript": "ENST00000343631.4",
"protein_id": "ENSP00000342656.3",
"transcript_support_level": 1,
"aa_start": 174,
"aa_end": null,
"aa_length": 718,
"cds_start": 520,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000343631.4"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXT2",
"gene_hgnc_id": 3513,
"hgvs_c": "c.520A>C",
"hgvs_p": "p.Met174Leu",
"transcript": "ENST00000395673.8",
"protein_id": "ENSP00000379032.4",
"transcript_support_level": 1,
"aa_start": 174,
"aa_end": null,
"aa_length": 718,
"cds_start": 520,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395673.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXT2",
"gene_hgnc_id": 3513,
"hgvs_c": "n.218A>C",
"hgvs_p": null,
"transcript": "ENST00000529186.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000529186.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXT2",
"gene_hgnc_id": 3513,
"hgvs_c": "c.619A>C",
"hgvs_p": "p.Met207Leu",
"transcript": "NM_000401.3",
"protein_id": "NP_000392.3",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 751,
"cds_start": 619,
"cds_end": null,
"cds_length": 2256,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000401.3"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXT2",
"gene_hgnc_id": 3513,
"hgvs_c": "c.520A>C",
"hgvs_p": "p.Met174Leu",
"transcript": "NM_001178083.3",
"protein_id": "NP_001171554.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 728,
"cds_start": 520,
"cds_end": null,
"cds_length": 2187,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001178083.3"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXT2",
"gene_hgnc_id": 3513,
"hgvs_c": "c.520A>C",
"hgvs_p": "p.Met174Leu",
"transcript": "NM_001389628.1",
"protein_id": "NP_001376557.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 718,
"cds_start": 520,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001389628.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXT2",
"gene_hgnc_id": 3513,
"hgvs_c": "c.520A>C",
"hgvs_p": "p.Met174Leu",
"transcript": "NM_001389630.1",
"protein_id": "NP_001376559.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 718,
"cds_start": 520,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001389630.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXT2",
"gene_hgnc_id": 3513,
"hgvs_c": "c.520A>C",
"hgvs_p": "p.Met174Leu",
"transcript": "ENST00000683000.1",
"protein_id": "ENSP00000508361.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 718,
"cds_start": 520,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683000.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXT2",
"gene_hgnc_id": 3513,
"hgvs_c": "c.520A>C",
"hgvs_p": "p.Met174Leu",
"transcript": "ENST00000860016.1",
"protein_id": "ENSP00000530075.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 718,
"cds_start": 520,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860016.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXT2",
"gene_hgnc_id": 3513,
"hgvs_c": "c.520A>C",
"hgvs_p": "p.Met174Leu",
"transcript": "ENST00000860017.1",
"protein_id": "ENSP00000530076.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 718,
"cds_start": 520,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860017.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXT2",
"gene_hgnc_id": 3513,
"hgvs_c": "c.520A>C",
"hgvs_p": "p.Met174Leu",
"transcript": "ENST00000860018.1",
"protein_id": "ENSP00000530077.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 718,
"cds_start": 520,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860018.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXT2",
"gene_hgnc_id": 3513,
"hgvs_c": "c.520A>C",
"hgvs_p": "p.Met174Leu",
"transcript": "ENST00000860019.1",
"protein_id": "ENSP00000530078.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 718,
"cds_start": 520,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860019.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXT2",
"gene_hgnc_id": 3513,
"hgvs_c": "c.520A>C",
"hgvs_p": "p.Met174Leu",
"transcript": "ENST00000860020.1",
"protein_id": "ENSP00000530079.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 718,
"cds_start": 520,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860020.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXT2",
"gene_hgnc_id": 3513,
"hgvs_c": "c.520A>C",
"hgvs_p": "p.Met174Leu",
"transcript": "ENST00000860021.1",
"protein_id": "ENSP00000530080.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 718,
"cds_start": 520,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860021.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXT2",
"gene_hgnc_id": 3513,
"hgvs_c": "c.520A>C",
"hgvs_p": "p.Met174Leu",
"transcript": "ENST00000958404.1",
"protein_id": "ENSP00000628463.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 718,
"cds_start": 520,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958404.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXT2",
"gene_hgnc_id": 3513,
"hgvs_c": "c.520A>C",
"hgvs_p": "p.Met174Leu",
"transcript": "ENST00000958405.1",
"protein_id": "ENSP00000628464.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 718,
"cds_start": 520,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958405.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXT2",
"gene_hgnc_id": 3513,
"hgvs_c": "c.520A>C",
"hgvs_p": "p.Met174Leu",
"transcript": "ENST00000860022.1",
"protein_id": "ENSP00000530081.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 670,
"cds_start": 520,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860022.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXT2",
"gene_hgnc_id": 3513,
"hgvs_c": "c.520A>C",
"hgvs_p": "p.Met174Leu",
"transcript": "ENST00000682359.1",
"protein_id": "ENSP00000508226.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 640,
"cds_start": 520,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682359.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXT2",
"gene_hgnc_id": 3513,
"hgvs_c": "c.520A>C",
"hgvs_p": "p.Met174Leu",
"transcript": "ENST00000684533.1",
"protein_id": "ENSP00000507915.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 606,
"cds_start": 520,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684533.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXT2",
"gene_hgnc_id": 3513,
"hgvs_c": "c.658A>C",
"hgvs_p": "p.Met220Leu",
"transcript": "XM_011519950.2",
"protein_id": "XP_011518252.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 764,
"cds_start": 658,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519950.2"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXT2",
"gene_hgnc_id": 3513,
"hgvs_c": "c.574A>C",
"hgvs_p": "p.Met192Leu",
"transcript": "XM_047426528.1",
"protein_id": "XP_047282484.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 736,
"cds_start": 574,
"cds_end": null,
"cds_length": 2211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426528.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXT2",
"gene_hgnc_id": 3513,
"hgvs_c": "c.574A>C",
"hgvs_p": "p.Met192Leu",
"transcript": "XM_047426529.1",
"protein_id": "XP_047282485.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 736,
"cds_start": 574,
"cds_end": null,
"cds_length": 2211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426529.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXT2",
"gene_hgnc_id": 3513,
"hgvs_c": "c.520A>C",
"hgvs_p": "p.Met174Leu",
"transcript": "XM_047426530.1",
"protein_id": "XP_047282486.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 718,
"cds_start": 520,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426530.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EXT2",
"gene_hgnc_id": 3513,
"hgvs_c": "c.-544+12380A>C",
"hgvs_p": null,
"transcript": "ENST00000682711.1",
"protein_id": "ENSP00000506803.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 176,
"cds_start": null,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682711.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXT2",
"gene_hgnc_id": 3513,
"hgvs_c": "n.679A>C",
"hgvs_p": null,
"transcript": "ENST00000531161.6",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000531161.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXT2",
"gene_hgnc_id": 3513,
"hgvs_c": "n.520A>C",
"hgvs_p": null,
"transcript": "ENST00000682815.1",
"protein_id": "ENSP00000507234.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000682815.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXT2",
"gene_hgnc_id": 3513,
"hgvs_c": "n.694A>C",
"hgvs_p": null,
"transcript": "ENST00000682947.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000682947.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXT2",
"gene_hgnc_id": 3513,
"hgvs_c": "n.520A>C",
"hgvs_p": null,
"transcript": "ENST00000682993.1",
"protein_id": "ENSP00000507580.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000682993.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXT2",
"gene_hgnc_id": 3513,
"hgvs_c": "n.937A>C",
"hgvs_p": null,
"transcript": "ENST00000683299.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000683299.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXT2",
"gene_hgnc_id": 3513,
"hgvs_c": "n.520A>C",
"hgvs_p": null,
"transcript": "ENST00000683870.1",
"protein_id": "ENSP00000507922.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000683870.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXT2",
"gene_hgnc_id": 3513,
"hgvs_c": "n.3081A>C",
"hgvs_p": null,
"transcript": "ENST00000683881.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000683881.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXT2",
"gene_hgnc_id": 3513,
"hgvs_c": "n.520A>C",
"hgvs_p": null,
"transcript": "ENST00000684039.1",
"protein_id": "ENSP00000507677.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000684039.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXT2",
"gene_hgnc_id": 3513,
"hgvs_c": "n.520A>C",
"hgvs_p": null,
"transcript": "ENST00000684124.1",
"protein_id": "ENSP00000508332.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000684124.1"
}
],
"gene_symbol": "EXT2",
"gene_hgnc_id": 3513,
"dbsnp": "rs111589746",
"frequency_reference_population": 0.00029577652,
"hom_count_reference_population": 0,
"allele_count_reference_population": 477,
"gnomad_exomes_af": 0.000295101,
"gnomad_genomes_af": 0.000302262,
"gnomad_exomes_ac": 431,
"gnomad_genomes_ac": 46,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.00944027304649353,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.319,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0489,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.25,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.135,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -9,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS1",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS1"
],
"verdict": "Benign",
"transcript": "NM_000401.3",
"gene_symbol": "EXT2",
"hgnc_id": 3513,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.619A>C",
"hgvs_p": "p.Met207Leu"
}
],
"clinvar_disease": " multiple, type 2,EXT2-related disorder,Exostoses,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:2 B:2 O:1",
"phenotype_combined": "Exostoses, multiple, type 2|not provided|not specified|EXT2-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}