← 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: 2-144399009-A-AGAGT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=144399009&ref=A&alt=AGAGT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 144399009,
"ref": "A",
"alt": "AGAGT",
"effect": "frameshift_variant",
"transcript": "NM_014795.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "SL?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.2174_2177dupACTC",
"hgvs_p": "p.Leu728fs",
"transcript": "NM_014795.4",
"protein_id": "NP_055610.1",
"transcript_support_level": null,
"aa_start": 726,
"aa_end": null,
"aa_length": 1214,
"cds_start": 2177,
"cds_end": null,
"cds_length": 3645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000627532.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014795.4"
},
{
"aa_ref": "S",
"aa_alt": "SL?",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.2174_2177dupACTC",
"hgvs_p": "p.Leu728fs",
"transcript": "ENST00000627532.3",
"protein_id": "ENSP00000487174.1",
"transcript_support_level": 1,
"aa_start": 726,
"aa_end": null,
"aa_length": 1214,
"cds_start": 2177,
"cds_end": null,
"cds_length": 3645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014795.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000627532.3"
},
{
"aa_ref": "S",
"aa_alt": "SL?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.2174_2177dupACTC",
"hgvs_p": "p.Leu728fs",
"transcript": "ENST00000558170.6",
"protein_id": "ENSP00000454157.1",
"transcript_support_level": 1,
"aa_start": 726,
"aa_end": null,
"aa_length": 1214,
"cds_start": 2177,
"cds_end": null,
"cds_length": 3645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000558170.6"
},
{
"aa_ref": "S",
"aa_alt": "SL?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.2171_2174dupACTC",
"hgvs_p": "p.Leu727fs",
"transcript": "ENST00000303660.8",
"protein_id": "ENSP00000302501.4",
"transcript_support_level": 1,
"aa_start": 725,
"aa_end": null,
"aa_length": 1213,
"cds_start": 2174,
"cds_end": null,
"cds_length": 3642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000303660.8"
},
{
"aa_ref": "S",
"aa_alt": "SL?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.2249_2252dupACTC",
"hgvs_p": "p.Leu753fs",
"transcript": "ENST00000636471.1",
"protein_id": "ENSP00000490317.1",
"transcript_support_level": 5,
"aa_start": 751,
"aa_end": null,
"aa_length": 1239,
"cds_start": 2252,
"cds_end": null,
"cds_length": 3720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636471.1"
},
{
"aa_ref": "S",
"aa_alt": "SL?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.2174_2177dupACTC",
"hgvs_p": "p.Leu728fs",
"transcript": "ENST00000409487.7",
"protein_id": "ENSP00000386854.2",
"transcript_support_level": 5,
"aa_start": 726,
"aa_end": null,
"aa_length": 1214,
"cds_start": 2177,
"cds_end": null,
"cds_length": 3645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409487.7"
},
{
"aa_ref": "S",
"aa_alt": "SL?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.2174_2177dupACTC",
"hgvs_p": "p.Leu728fs",
"transcript": "ENST00000886176.1",
"protein_id": "ENSP00000556235.1",
"transcript_support_level": null,
"aa_start": 726,
"aa_end": null,
"aa_length": 1214,
"cds_start": 2177,
"cds_end": null,
"cds_length": 3645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886176.1"
},
{
"aa_ref": "S",
"aa_alt": "SL?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.2174_2177dupACTC",
"hgvs_p": "p.Leu728fs",
"transcript": "ENST00000886177.1",
"protein_id": "ENSP00000556236.1",
"transcript_support_level": null,
"aa_start": 726,
"aa_end": null,
"aa_length": 1214,
"cds_start": 2177,
"cds_end": null,
"cds_length": 3645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886177.1"
},
{
"aa_ref": "S",
"aa_alt": "SL?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.2174_2177dupACTC",
"hgvs_p": "p.Leu728fs",
"transcript": "ENST00000886179.1",
"protein_id": "ENSP00000556238.1",
"transcript_support_level": null,
"aa_start": 726,
"aa_end": null,
"aa_length": 1214,
"cds_start": 2177,
"cds_end": null,
"cds_length": 3645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886179.1"
},
{
"aa_ref": "S",
"aa_alt": "SL?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.2174_2177dupACTC",
"hgvs_p": "p.Leu728fs",
"transcript": "ENST00000965901.1",
"protein_id": "ENSP00000635960.1",
"transcript_support_level": null,
"aa_start": 726,
"aa_end": null,
"aa_length": 1214,
"cds_start": 2177,
"cds_end": null,
"cds_length": 3645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965901.1"
},
{
"aa_ref": "S",
"aa_alt": "SL?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.2174_2177dupACTC",
"hgvs_p": "p.Leu728fs",
"transcript": "ENST00000965902.1",
"protein_id": "ENSP00000635961.1",
"transcript_support_level": null,
"aa_start": 726,
"aa_end": null,
"aa_length": 1214,
"cds_start": 2177,
"cds_end": null,
"cds_length": 3645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965902.1"
},
{
"aa_ref": "S",
"aa_alt": "SL?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.2174_2177dupACTC",
"hgvs_p": "p.Leu728fs",
"transcript": "ENST00000636026.2",
"protein_id": "ENSP00000490776.1",
"transcript_support_level": 5,
"aa_start": 726,
"aa_end": null,
"aa_length": 1202,
"cds_start": 2177,
"cds_end": null,
"cds_length": 3609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636026.2"
},
{
"aa_ref": "S",
"aa_alt": "SL?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.2102_2105dupACTC",
"hgvs_p": "p.Leu704fs",
"transcript": "NM_001171653.2",
"protein_id": "NP_001165124.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 1190,
"cds_start": 2105,
"cds_end": null,
"cds_length": 3573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001171653.2"
},
{
"aa_ref": "S",
"aa_alt": "SL?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.2102_2105dupACTC",
"hgvs_p": "p.Leu704fs",
"transcript": "ENST00000539609.7",
"protein_id": "ENSP00000443792.2",
"transcript_support_level": 2,
"aa_start": 702,
"aa_end": null,
"aa_length": 1190,
"cds_start": 2105,
"cds_end": null,
"cds_length": 3573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000539609.7"
},
{
"aa_ref": "S",
"aa_alt": "SL?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.2102_2105dupACTC",
"hgvs_p": "p.Leu704fs",
"transcript": "ENST00000886178.1",
"protein_id": "ENSP00000556237.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 1190,
"cds_start": 2105,
"cds_end": null,
"cds_length": 3573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886178.1"
},
{
"aa_ref": "S",
"aa_alt": "SL?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.1838_1841dupACTC",
"hgvs_p": "p.Leu616fs",
"transcript": "ENST00000636413.1",
"protein_id": "ENSP00000490508.1",
"transcript_support_level": 5,
"aa_start": 614,
"aa_end": null,
"aa_length": 1102,
"cds_start": 1841,
"cds_end": null,
"cds_length": 3309,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636413.1"
},
{
"aa_ref": "S",
"aa_alt": "SL?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.1838_1841dupACTC",
"hgvs_p": "p.Leu616fs",
"transcript": "ENST00000637045.1",
"protein_id": "ENSP00000490141.1",
"transcript_support_level": 5,
"aa_start": 614,
"aa_end": null,
"aa_length": 1102,
"cds_start": 1841,
"cds_end": null,
"cds_length": 3309,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000637045.1"
},
{
"aa_ref": "S",
"aa_alt": "SL?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.1838_1841dupACTC",
"hgvs_p": "p.Leu616fs",
"transcript": "ENST00000637304.1",
"protein_id": "ENSP00000490872.1",
"transcript_support_level": 5,
"aa_start": 614,
"aa_end": null,
"aa_length": 1102,
"cds_start": 1841,
"cds_end": null,
"cds_length": 3309,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000637304.1"
},
{
"aa_ref": "S",
"aa_alt": "SL?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.1838_1841dupACTC",
"hgvs_p": "p.Leu616fs",
"transcript": "ENST00000638007.1",
"protein_id": "ENSP00000490723.1",
"transcript_support_level": 5,
"aa_start": 614,
"aa_end": null,
"aa_length": 1102,
"cds_start": 1841,
"cds_end": null,
"cds_length": 3309,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000638007.1"
},
{
"aa_ref": "S",
"aa_alt": "SL?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.1397_1400dupACTC",
"hgvs_p": "p.Leu469fs",
"transcript": "ENST00000440875.6",
"protein_id": "ENSP00000475553.3",
"transcript_support_level": 5,
"aa_start": 467,
"aa_end": null,
"aa_length": 955,
"cds_start": 1400,
"cds_end": null,
"cds_length": 2868,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000440875.6"
},
{
"aa_ref": "S",
"aa_alt": "SL?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.1397_1400dupACTC",
"hgvs_p": "p.Leu469fs",
"transcript": "ENST00000638128.1",
"protein_id": "ENSP00000490934.1",
"transcript_support_level": 5,
"aa_start": 467,
"aa_end": null,
"aa_length": 955,
"cds_start": 1400,
"cds_end": null,
"cds_length": 2868,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000638128.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.-133-163_-133-160dupACTC",
"hgvs_p": null,
"transcript": "ENST00000675069.1",
"protein_id": "ENSP00000502467.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 391,
"cds_start": null,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675069.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.655+2186_655+2189dupACTC",
"hgvs_p": null,
"transcript": "ENST00000419938.5",
"protein_id": "ENSP00000394777.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 220,
"cds_start": null,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000419938.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "n.2143_2146dupACTC",
"hgvs_p": null,
"transcript": "ENST00000636179.1",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000636179.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "n.*1891_*1894dupACTC",
"hgvs_p": null,
"transcript": "ENST00000636732.2",
"protein_id": "ENSP00000490175.1",
"transcript_support_level": 5,
"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": "ENST00000636732.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "n.2274_2277dupACTC",
"hgvs_p": null,
"transcript": "ENST00000636820.1",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000636820.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "n.2498_2501dupACTC",
"hgvs_p": null,
"transcript": "ENST00000638087.2",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000638087.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "n.2722_2725dupACTC",
"hgvs_p": null,
"transcript": "ENST00000675145.1",
"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": "ENST00000675145.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "n.*2023_*2026dupACTC",
"hgvs_p": null,
"transcript": "ENST00000689298.1",
"protein_id": "ENSP00000508434.1",
"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": "ENST00000689298.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "n.*1891_*1894dupACTC",
"hgvs_p": null,
"transcript": "ENST00000636732.2",
"protein_id": "ENSP00000490175.1",
"transcript_support_level": 5,
"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": "ENST00000636732.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "n.*2023_*2026dupACTC",
"hgvs_p": null,
"transcript": "ENST00000689298.1",
"protein_id": "ENSP00000508434.1",
"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": "ENST00000689298.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.*67_*70dupACTC",
"hgvs_p": null,
"transcript": "ENST00000427902.5",
"protein_id": "ENSP00000395496.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 730,
"cds_start": null,
"cds_end": null,
"cds_length": 2194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000427902.5"
}
],
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"dbsnp": "rs398124278",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 6.784,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "NM_014795.4",
"gene_symbol": "ZEB2",
"hgnc_id": 14881,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2174_2177dupACTC",
"hgvs_p": "p.Leu728fs"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}