← 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: 10-8058649-CT-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=8058649&ref=CT&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 8058649,
"ref": "CT",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "ENST00000379328.9",
"consequences": [
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA3",
"gene_hgnc_id": 4172,
"hgvs_c": "c.587delT",
"hgvs_p": "p.Leu196fs",
"transcript": "NM_001002295.2",
"protein_id": "NP_001002295.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 444,
"cds_start": 587,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 1160,
"cdna_end": null,
"cdna_length": 3083,
"mane_select": "ENST00000379328.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA3",
"gene_hgnc_id": 4172,
"hgvs_c": "c.587delT",
"hgvs_p": "p.Leu196fs",
"transcript": "ENST00000379328.9",
"protein_id": "ENSP00000368632.3",
"transcript_support_level": 1,
"aa_start": 196,
"aa_end": null,
"aa_length": 444,
"cds_start": 587,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 1160,
"cdna_end": null,
"cdna_length": 3083,
"mane_select": "NM_001002295.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA3",
"gene_hgnc_id": 4172,
"hgvs_c": "c.587delT",
"hgvs_p": "p.Leu196fs",
"transcript": "ENST00000346208.4",
"protein_id": "ENSP00000341619.3",
"transcript_support_level": 1,
"aa_start": 196,
"aa_end": null,
"aa_length": 443,
"cds_start": 587,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 1038,
"cdna_end": null,
"cdna_length": 2650,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA3",
"gene_hgnc_id": 4172,
"hgvs_c": "c.587delT",
"hgvs_p": "p.Leu196fs",
"transcript": "NM_001441115.1",
"protein_id": "NP_001428044.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 444,
"cds_start": 587,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 1139,
"cdna_end": null,
"cdna_length": 3062,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA3",
"gene_hgnc_id": 4172,
"hgvs_c": "c.587delT",
"hgvs_p": "p.Leu196fs",
"transcript": "NM_001441116.1",
"protein_id": "NP_001428045.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 444,
"cds_start": 587,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 1339,
"cdna_end": null,
"cdna_length": 3262,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA3",
"gene_hgnc_id": 4172,
"hgvs_c": "c.587delT",
"hgvs_p": "p.Leu196fs",
"transcript": "NM_001441117.1",
"protein_id": "NP_001428046.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 444,
"cds_start": 587,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 1481,
"cdna_end": null,
"cdna_length": 3404,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA3",
"gene_hgnc_id": 4172,
"hgvs_c": "c.587delT",
"hgvs_p": "p.Leu196fs",
"transcript": "NM_001441118.1",
"protein_id": "NP_001428047.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 444,
"cds_start": 587,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 1504,
"cdna_end": null,
"cdna_length": 3427,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA3",
"gene_hgnc_id": 4172,
"hgvs_c": "c.587delT",
"hgvs_p": "p.Leu196fs",
"transcript": "NM_001441119.1",
"protein_id": "NP_001428048.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 444,
"cds_start": 587,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 1629,
"cdna_end": null,
"cdna_length": 3552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA3",
"gene_hgnc_id": 4172,
"hgvs_c": "c.587delT",
"hgvs_p": "p.Leu196fs",
"transcript": "NM_001441120.1",
"protein_id": "NP_001428049.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 444,
"cds_start": 587,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 1287,
"cdna_end": null,
"cdna_length": 3210,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA3",
"gene_hgnc_id": 4172,
"hgvs_c": "c.587delT",
"hgvs_p": "p.Leu196fs",
"transcript": "NM_001441121.1",
"protein_id": "NP_001428050.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 444,
"cds_start": 587,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 1705,
"cdna_end": null,
"cdna_length": 3628,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA3",
"gene_hgnc_id": 4172,
"hgvs_c": "c.587delT",
"hgvs_p": "p.Leu196fs",
"transcript": "NM_001441122.1",
"protein_id": "NP_001428051.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 444,
"cds_start": 587,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 1682,
"cdna_end": null,
"cdna_length": 3605,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA3",
"gene_hgnc_id": 4172,
"hgvs_c": "c.587delT",
"hgvs_p": "p.Leu196fs",
"transcript": "NM_001441123.1",
"protein_id": "NP_001428052.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 444,
"cds_start": 587,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 1094,
"cdna_end": null,
"cdna_length": 3017,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA3",
"gene_hgnc_id": 4172,
"hgvs_c": "c.587delT",
"hgvs_p": "p.Leu196fs",
"transcript": "NM_001441124.1",
"protein_id": "NP_001428053.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 443,
"cds_start": 587,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 1139,
"cdna_end": null,
"cdna_length": 3059,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA3",
"gene_hgnc_id": 4172,
"hgvs_c": "c.587delT",
"hgvs_p": "p.Leu196fs",
"transcript": "NM_001441125.1",
"protein_id": "NP_001428054.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 443,
"cds_start": 587,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 1287,
"cdna_end": null,
"cdna_length": 3207,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA3",
"gene_hgnc_id": 4172,
"hgvs_c": "c.587delT",
"hgvs_p": "p.Leu196fs",
"transcript": "NM_001441126.1",
"protein_id": "NP_001428055.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 443,
"cds_start": 587,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 1705,
"cdna_end": null,
"cdna_length": 3625,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA3",
"gene_hgnc_id": 4172,
"hgvs_c": "c.587delT",
"hgvs_p": "p.Leu196fs",
"transcript": "NM_001441127.1",
"protein_id": "NP_001428056.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 443,
"cds_start": 587,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 1682,
"cdna_end": null,
"cdna_length": 3602,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA3",
"gene_hgnc_id": 4172,
"hgvs_c": "c.587delT",
"hgvs_p": "p.Leu196fs",
"transcript": "NM_001441128.1",
"protein_id": "NP_001428057.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 443,
"cds_start": 587,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 1094,
"cdna_end": null,
"cdna_length": 3014,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA3",
"gene_hgnc_id": 4172,
"hgvs_c": "c.587delT",
"hgvs_p": "p.Leu196fs",
"transcript": "NM_002051.3",
"protein_id": "NP_002042.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 443,
"cds_start": 587,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 1160,
"cdna_end": null,
"cdna_length": 3080,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA3",
"gene_hgnc_id": 4172,
"hgvs_c": "c.587delT",
"hgvs_p": "p.Leu196fs",
"transcript": "NM_001441129.1",
"protein_id": "NP_001428058.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 367,
"cds_start": 587,
"cds_end": null,
"cds_length": 1104,
"cdna_start": 1139,
"cdna_end": null,
"cdna_length": 3054,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA3",
"gene_hgnc_id": 4172,
"hgvs_c": "c.587delT",
"hgvs_p": "p.Leu196fs",
"transcript": "NM_001441130.1",
"protein_id": "NP_001428059.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 367,
"cds_start": 587,
"cds_end": null,
"cds_length": 1104,
"cdna_start": 1094,
"cdna_end": null,
"cdna_length": 3009,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA3",
"gene_hgnc_id": 4172,
"hgvs_c": "c.587delT",
"hgvs_p": "p.Leu196fs",
"transcript": "NM_001441131.1",
"protein_id": "NP_001428060.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 367,
"cds_start": 587,
"cds_end": null,
"cds_length": 1104,
"cdna_start": 1160,
"cdna_end": null,
"cdna_length": 3075,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA3",
"gene_hgnc_id": 4172,
"hgvs_c": "c.587delT",
"hgvs_p": "p.Leu196fs",
"transcript": "NM_001441132.1",
"protein_id": "NP_001428061.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 366,
"cds_start": 587,
"cds_end": null,
"cds_length": 1101,
"cdna_start": 1139,
"cdna_end": null,
"cdna_length": 3051,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA3",
"gene_hgnc_id": 4172,
"hgvs_c": "c.587delT",
"hgvs_p": "p.Leu196fs",
"transcript": "NM_001441133.1",
"protein_id": "NP_001428062.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 366,
"cds_start": 587,
"cds_end": null,
"cds_length": 1101,
"cdna_start": 1160,
"cdna_end": null,
"cdna_length": 3072,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA3",
"gene_hgnc_id": 4172,
"hgvs_c": "c.587delT",
"hgvs_p": "p.Leu196fs",
"transcript": "NM_001441134.1",
"protein_id": "NP_001428063.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 302,
"cds_start": 587,
"cds_end": null,
"cds_length": 909,
"cdna_start": 1160,
"cdna_end": null,
"cdna_length": 2937,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA3",
"gene_hgnc_id": 4172,
"hgvs_c": "c.251delT",
"hgvs_p": "p.Leu84fs",
"transcript": "ENST00000461472.1",
"protein_id": "ENSP00000515407.1",
"transcript_support_level": 3,
"aa_start": 84,
"aa_end": null,
"aa_length": 190,
"cds_start": 251,
"cds_end": null,
"cds_length": 573,
"cdna_start": 252,
"cdna_end": null,
"cdna_length": 895,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA3",
"gene_hgnc_id": 4172,
"hgvs_c": "c.587delT",
"hgvs_p": "p.Leu196fs",
"transcript": "XM_005252442.3",
"protein_id": "XP_005252499.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 444,
"cds_start": 587,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 2684,
"cdna_end": null,
"cdna_length": 4607,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA3",
"gene_hgnc_id": 4172,
"hgvs_c": "c.587delT",
"hgvs_p": "p.Leu196fs",
"transcript": "XM_047425044.1",
"protein_id": "XP_047281000.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 443,
"cds_start": 587,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 2684,
"cdna_end": null,
"cdna_length": 4604,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA3",
"gene_hgnc_id": 4172,
"hgvs_c": "c.*156delT",
"hgvs_p": null,
"transcript": "ENST00000481743.2",
"protein_id": "ENSP00000493486.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 142,
"cds_start": -4,
"cds_end": null,
"cds_length": 431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 975,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GATA3",
"gene_hgnc_id": 4172,
"dbsnp": "rs1554794844",
"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": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 7.972,
"phylop100way_prediction": "Pathogenic",
"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": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "ENST00000379328.9",
"gene_symbol": "GATA3",
"hgnc_id": 4172,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.587delT",
"hgvs_p": "p.Leu196fs"
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}