← 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: 17-42338783-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=42338783&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 42338783,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_139276.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.498G>C",
"hgvs_p": "p.Glu166Asp",
"transcript": "NM_139276.3",
"protein_id": "NP_644805.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 770,
"cds_start": 498,
"cds_end": null,
"cds_length": 2313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000264657.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_139276.3"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.498G>C",
"hgvs_p": "p.Glu166Asp",
"transcript": "ENST00000264657.10",
"protein_id": "ENSP00000264657.4",
"transcript_support_level": 1,
"aa_start": 166,
"aa_end": null,
"aa_length": 770,
"cds_start": 498,
"cds_end": null,
"cds_length": 2313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_139276.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264657.10"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.498G>C",
"hgvs_p": "p.Glu166Asp",
"transcript": "ENST00000588969.5",
"protein_id": "ENSP00000467985.1",
"transcript_support_level": 1,
"aa_start": 166,
"aa_end": null,
"aa_length": 770,
"cds_start": 498,
"cds_end": null,
"cds_length": 2313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000588969.5"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.498G>C",
"hgvs_p": "p.Glu166Asp",
"transcript": "ENST00000404395.3",
"protein_id": "ENSP00000384943.3",
"transcript_support_level": 1,
"aa_start": 166,
"aa_end": null,
"aa_length": 769,
"cds_start": 498,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000404395.3"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.498G>C",
"hgvs_p": "p.Glu166Asp",
"transcript": "ENST00000677421.1",
"protein_id": "ENSP00000503599.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 802,
"cds_start": 498,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677421.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.498G>C",
"hgvs_p": "p.Glu166Asp",
"transcript": "ENST00000858559.1",
"protein_id": "ENSP00000528618.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 802,
"cds_start": 498,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858559.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.498G>C",
"hgvs_p": "p.Glu166Asp",
"transcript": "ENST00000943790.1",
"protein_id": "ENSP00000613849.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 802,
"cds_start": 498,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943790.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.498G>C",
"hgvs_p": "p.Glu166Asp",
"transcript": "ENST00000922766.1",
"protein_id": "ENSP00000592825.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 779,
"cds_start": 498,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922766.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.498G>C",
"hgvs_p": "p.Glu166Asp",
"transcript": "ENST00000678792.1",
"protein_id": "ENSP00000504435.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 775,
"cds_start": 498,
"cds_end": null,
"cds_length": 2328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678792.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.498G>C",
"hgvs_p": "p.Glu166Asp",
"transcript": "ENST00000678913.1",
"protein_id": "ENSP00000504609.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 775,
"cds_start": 498,
"cds_end": null,
"cds_length": 2328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678913.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.498G>C",
"hgvs_p": "p.Glu166Asp",
"transcript": "ENST00000858553.1",
"protein_id": "ENSP00000528612.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 775,
"cds_start": 498,
"cds_end": null,
"cds_length": 2328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858553.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.498G>C",
"hgvs_p": "p.Glu166Asp",
"transcript": "ENST00000858554.1",
"protein_id": "ENSP00000528613.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 774,
"cds_start": 498,
"cds_end": null,
"cds_length": 2325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858554.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.498G>C",
"hgvs_p": "p.Glu166Asp",
"transcript": "ENST00000922763.1",
"protein_id": "ENSP00000592822.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 774,
"cds_start": 498,
"cds_end": null,
"cds_length": 2325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922763.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.498G>C",
"hgvs_p": "p.Glu166Asp",
"transcript": "ENST00000943782.1",
"protein_id": "ENSP00000613841.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 774,
"cds_start": 498,
"cds_end": null,
"cds_length": 2325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943782.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.498G>C",
"hgvs_p": "p.Glu166Asp",
"transcript": "NM_001369512.1",
"protein_id": "NP_001356441.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 770,
"cds_start": 498,
"cds_end": null,
"cds_length": 2313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369512.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.498G>C",
"hgvs_p": "p.Glu166Asp",
"transcript": "NM_001369513.1",
"protein_id": "NP_001356442.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 770,
"cds_start": 498,
"cds_end": null,
"cds_length": 2313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369513.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.498G>C",
"hgvs_p": "p.Glu166Asp",
"transcript": "ENST00000678044.1",
"protein_id": "ENSP00000503102.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 770,
"cds_start": 498,
"cds_end": null,
"cds_length": 2313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678044.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.498G>C",
"hgvs_p": "p.Glu166Asp",
"transcript": "ENST00000678906.1",
"protein_id": "ENSP00000504184.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 770,
"cds_start": 498,
"cds_end": null,
"cds_length": 2313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678906.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.498G>C",
"hgvs_p": "p.Glu166Asp",
"transcript": "ENST00000678960.1",
"protein_id": "ENSP00000503181.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 770,
"cds_start": 498,
"cds_end": null,
"cds_length": 2313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678960.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.498G>C",
"hgvs_p": "p.Glu166Asp",
"transcript": "ENST00000715205.1",
"protein_id": "ENSP00000520412.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 770,
"cds_start": 498,
"cds_end": null,
"cds_length": 2313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000715205.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.498G>C",
"hgvs_p": "p.Glu166Asp",
"transcript": "ENST00000943797.1",
"protein_id": "ENSP00000613856.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 770,
"cds_start": 498,
"cds_end": null,
"cds_length": 2313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943797.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.498G>C",
"hgvs_p": "p.Glu166Asp",
"transcript": "NM_001369514.1",
"protein_id": "NP_001356443.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 769,
"cds_start": 498,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369514.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.498G>C",
"hgvs_p": "p.Glu166Asp",
"transcript": "NM_001369516.1",
"protein_id": "NP_001356445.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 769,
"cds_start": 498,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369516.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.498G>C",
"hgvs_p": "p.Glu166Asp",
"transcript": "NM_003150.4",
"protein_id": "NP_003141.2",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 769,
"cds_start": 498,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003150.4"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.498G>C",
"hgvs_p": "p.Glu166Asp",
"transcript": "ENST00000677723.1",
"protein_id": "ENSP00000503574.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 769,
"cds_start": 498,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677723.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.498G>C",
"hgvs_p": "p.Glu166Asp",
"transcript": "ENST00000679014.1",
"protein_id": "ENSP00000503237.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 769,
"cds_start": 498,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679014.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.498G>C",
"hgvs_p": "p.Glu166Asp",
"transcript": "ENST00000858558.1",
"protein_id": "ENSP00000528617.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 769,
"cds_start": 498,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858558.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.498G>C",
"hgvs_p": "p.Glu166Asp",
"transcript": "ENST00000943784.1",
"protein_id": "ENSP00000613843.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 769,
"cds_start": 498,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943784.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.498G>C",
"hgvs_p": "p.Glu166Asp",
"transcript": "ENST00000943796.1",
"protein_id": "ENSP00000613855.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 769,
"cds_start": 498,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943796.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.498G>C",
"hgvs_p": "p.Glu166Asp",
"transcript": "NM_001384993.1",
"protein_id": "NP_001371922.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 766,
"cds_start": 498,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384993.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.498G>C",
"hgvs_p": "p.Glu166Asp",
"transcript": "ENST00000858557.1",
"protein_id": "ENSP00000528616.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 766,
"cds_start": 498,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858557.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.498G>C",
"hgvs_p": "p.Glu166Asp",
"transcript": "ENST00000922765.1",
"protein_id": "ENSP00000592824.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 766,
"cds_start": 498,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922765.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.498G>C",
"hgvs_p": "p.Glu166Asp",
"transcript": "ENST00000677152.1",
"protein_id": "ENSP00000502874.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 765,
"cds_start": 498,
"cds_end": null,
"cds_length": 2298,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677152.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.498G>C",
"hgvs_p": "p.Glu166Asp",
"transcript": "ENST00000858555.1",
"protein_id": "ENSP00000528614.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 765,
"cds_start": 498,
"cds_end": null,
"cds_length": 2298,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858555.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.498G>C",
"hgvs_p": "p.Glu166Asp",
"transcript": "NM_001384987.1",
"protein_id": "NP_001371916.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 763,
"cds_start": 498,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384987.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.498G>C",
"hgvs_p": "p.Glu166Asp",
"transcript": "ENST00000678043.1",
"protein_id": "ENSP00000503872.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 763,
"cds_start": 498,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678043.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.498G>C",
"hgvs_p": "p.Glu166Asp",
"transcript": "ENST00000943793.1",
"protein_id": "ENSP00000613852.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 763,
"cds_start": 498,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943793.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.498G>C",
"hgvs_p": "p.Glu166Asp",
"transcript": "ENST00000943802.1",
"protein_id": "ENSP00000613861.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 763,
"cds_start": 498,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943802.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.498G>C",
"hgvs_p": "p.Glu166Asp",
"transcript": "ENST00000858561.1",
"protein_id": "ENSP00000528620.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 762,
"cds_start": 498,
"cds_end": null,
"cds_length": 2289,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858561.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.498G>C",
"hgvs_p": "p.Glu166Asp",
"transcript": "NM_001384991.1",
"protein_id": "NP_001371920.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 761,
"cds_start": 498,
"cds_end": null,
"cds_length": 2286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384991.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.498G>C",
"hgvs_p": "p.Glu166Asp",
"transcript": "ENST00000677442.1",
"protein_id": "ENSP00000504350.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 761,
"cds_start": 498,
"cds_end": null,
"cds_length": 2286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677442.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.498G>C",
"hgvs_p": "p.Glu166Asp",
"transcript": "ENST00000677002.1",
"protein_id": "ENSP00000503742.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 760,
"cds_start": 498,
"cds_end": null,
"cds_length": 2283,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677002.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.498G>C",
"hgvs_p": "p.Glu166Asp",
"transcript": "ENST00000943785.1",
"protein_id": "ENSP00000613844.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 760,
"cds_start": 498,
"cds_end": null,
"cds_length": 2283,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943785.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.498G>C",
"hgvs_p": "p.Glu166Asp",
"transcript": "ENST00000922764.1",
"protein_id": "ENSP00000592823.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 754,
"cds_start": 498,
"cds_end": null,
"cds_length": 2265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922764.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.498G>C",
"hgvs_p": "p.Glu166Asp",
"transcript": "NM_001384992.1",
"protein_id": "NP_001371921.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 750,
"cds_start": 498,
"cds_end": null,
"cds_length": 2253,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384992.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.498G>C",
"hgvs_p": "p.Glu166Asp",
"transcript": "ENST00000858552.1",
"protein_id": "ENSP00000528611.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 750,
"cds_start": 498,
"cds_end": null,
"cds_length": 2253,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858552.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.498G>C",
"hgvs_p": "p.Glu166Asp",
"transcript": "ENST00000922767.1",
"protein_id": "ENSP00000592826.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 750,
"cds_start": 498,
"cds_end": null,
"cds_length": 2253,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922767.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.498G>C",
"hgvs_p": "p.Glu166Asp",
"transcript": "ENST00000943798.1",
"protein_id": "ENSP00000613857.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 750,
"cds_start": 498,
"cds_end": null,
"cds_length": 2253,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943798.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.498G>C",
"hgvs_p": "p.Glu166Asp",
"transcript": "ENST00000922770.1",
"protein_id": "ENSP00000592829.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 749,
"cds_start": 498,
"cds_end": null,
"cds_length": 2250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922770.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.498G>C",
"hgvs_p": "p.Glu166Asp",
"transcript": "ENST00000943801.1",
"protein_id": "ENSP00000613860.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 749,
"cds_start": 498,
"cds_end": null,
"cds_length": 2250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943801.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.498G>C",
"hgvs_p": "p.Glu166Asp",
"transcript": "ENST00000922768.1",
"protein_id": "ENSP00000592827.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 747,
"cds_start": 498,
"cds_end": null,
"cds_length": 2244,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922768.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.420G>C",
"hgvs_p": "p.Glu140Asp",
"transcript": "NM_001384985.1",
"protein_id": "NP_001371914.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 744,
"cds_start": 420,
"cds_end": null,
"cds_length": 2235,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384985.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.498G>C",
"hgvs_p": "p.Glu166Asp",
"transcript": "NM_001384984.1",
"protein_id": "NP_001371913.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 742,
"cds_start": 498,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384984.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.498G>C",
"hgvs_p": "p.Glu166Asp",
"transcript": "ENST00000678048.1",
"protein_id": "ENSP00000503799.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 742,
"cds_start": 498,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678048.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.498G>C",
"hgvs_p": "p.Glu166Asp",
"transcript": "ENST00000679166.1",
"protein_id": "ENSP00000503308.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 742,
"cds_start": 498,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679166.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.498G>C",
"hgvs_p": "p.Glu166Asp",
"transcript": "ENST00000858562.1",
"protein_id": "ENSP00000528621.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 741,
"cds_start": 498,
"cds_end": null,
"cds_length": 2226,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858562.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.498G>C",
"hgvs_p": "p.Glu166Asp",
"transcript": "ENST00000943786.1",
"protein_id": "ENSP00000613845.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 741,
"cds_start": 498,
"cds_end": null,
"cds_length": 2226,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943786.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.498G>C",
"hgvs_p": "p.Glu166Asp",
"transcript": "ENST00000943783.1",
"protein_id": "ENSP00000613842.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 739,
"cds_start": 498,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943783.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.498G>C",
"hgvs_p": "p.Glu166Asp",
"transcript": "ENST00000943795.1",
"protein_id": "ENSP00000613854.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 739,
"cds_start": 498,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943795.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.498G>C",
"hgvs_p": "p.Glu166Asp",
"transcript": "ENST00000943804.1",
"protein_id": "ENSP00000613863.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 739,
"cds_start": 498,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943804.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.498G>C",
"hgvs_p": "p.Glu166Asp",
"transcript": "NM_001384988.1",
"protein_id": "NP_001371917.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 738,
"cds_start": 498,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384988.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.498G>C",
"hgvs_p": "p.Glu166Asp",
"transcript": "ENST00000677603.1",
"protein_id": "ENSP00000504324.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 738,
"cds_start": 498,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677603.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.498G>C",
"hgvs_p": "p.Glu166Asp",
"transcript": "ENST00000678535.1",
"protein_id": "ENSP00000504081.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 738,
"cds_start": 498,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678535.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.402G>C",
"hgvs_p": "p.Glu134Asp",
"transcript": "ENST00000858556.1",
"protein_id": "ENSP00000528615.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 738,
"cds_start": 402,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858556.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.498G>C",
"hgvs_p": "p.Glu166Asp",
"transcript": "ENST00000922769.1",
"protein_id": "ENSP00000592828.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 738,
"cds_start": 498,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922769.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.402G>C",
"hgvs_p": "p.Glu134Asp",
"transcript": "ENST00000943791.1",
"protein_id": "ENSP00000613850.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 738,
"cds_start": 402,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943791.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.402G>C",
"hgvs_p": "p.Glu134Asp",
"transcript": "ENST00000943794.1",
"protein_id": "ENSP00000613853.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 738,
"cds_start": 402,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943794.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.402G>C",
"hgvs_p": "p.Glu134Asp",
"transcript": "NM_001384989.1",
"protein_id": "NP_001371918.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 737,
"cds_start": 402,
"cds_end": null,
"cds_length": 2214,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384989.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.402G>C",
"hgvs_p": "p.Glu134Asp",
"transcript": "ENST00000678674.1",
"protein_id": "ENSP00000504062.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 737,
"cds_start": 402,
"cds_end": null,
"cds_length": 2214,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678674.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.399G>C",
"hgvs_p": "p.Glu133Asp",
"transcript": "ENST00000858560.1",
"protein_id": "ENSP00000528619.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 737,
"cds_start": 399,
"cds_end": null,
"cds_length": 2214,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858560.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.399G>C",
"hgvs_p": "p.Glu133Asp",
"transcript": "ENST00000943788.1",
"protein_id": "ENSP00000613847.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 737,
"cds_start": 399,
"cds_end": null,
"cds_length": 2214,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943788.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.399G>C",
"hgvs_p": "p.Glu133Asp",
"transcript": "ENST00000943803.1",
"protein_id": "ENSP00000613862.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 737,
"cds_start": 399,
"cds_end": null,
"cds_length": 2214,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943803.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.399G>C",
"hgvs_p": "p.Glu133Asp",
"transcript": "ENST00000943789.1",
"protein_id": "ENSP00000613848.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 736,
"cds_start": 399,
"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": "ENST00000943789.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.498G>C",
"hgvs_p": "p.Glu166Asp",
"transcript": "NM_001384990.1",
"protein_id": "NP_001371919.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 727,
"cds_start": 498,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384990.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.498G>C",
"hgvs_p": "p.Glu166Asp",
"transcript": "ENST00000678572.1",
"protein_id": "ENSP00000504182.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 727,
"cds_start": 498,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678572.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.498G>C",
"hgvs_p": "p.Glu166Asp",
"transcript": "NM_001384986.1",
"protein_id": "NP_001371915.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 726,
"cds_start": 498,
"cds_end": null,
"cds_length": 2181,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384986.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.498G>C",
"hgvs_p": "p.Glu166Asp",
"transcript": "ENST00000678905.1",
"protein_id": "ENSP00000503333.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 726,
"cds_start": 498,
"cds_end": null,
"cds_length": 2181,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678905.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.498G>C",
"hgvs_p": "p.Glu166Asp",
"transcript": "NM_001369517.1",
"protein_id": "NP_001356446.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 722,
"cds_start": 498,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369517.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.498G>C",
"hgvs_p": "p.Glu166Asp",
"transcript": "NM_001369518.1",
"protein_id": "NP_001356447.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 722,
"cds_start": 498,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369518.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.498G>C",
"hgvs_p": "p.Glu166Asp",
"transcript": "NM_213662.2",
"protein_id": "NP_998827.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 722,
"cds_start": 498,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_213662.2"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.498G>C",
"hgvs_p": "p.Glu166Asp",
"transcript": "ENST00000585517.5",
"protein_id": "ENSP00000467000.1",
"transcript_support_level": 5,
"aa_start": 166,
"aa_end": null,
"aa_length": 722,
"cds_start": 498,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000585517.5"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.498G>C",
"hgvs_p": "p.Glu166Asp",
"transcript": "ENST00000677030.1",
"protein_id": "ENSP00000503662.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 722,
"cds_start": 498,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677030.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.498G>C",
"hgvs_p": "p.Glu166Asp",
"transcript": "ENST00000678827.1",
"protein_id": "ENSP00000503634.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 722,
"cds_start": 498,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678827.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.498G>C",
"hgvs_p": "p.Glu166Asp",
"transcript": "ENST00000943787.1",
"protein_id": "ENSP00000613846.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 722,
"cds_start": 498,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943787.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.498G>C",
"hgvs_p": "p.Glu166Asp",
"transcript": "NM_001369519.1",
"protein_id": "NP_001356448.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 721,
"cds_start": 498,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369519.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.498G>C",
"hgvs_p": "p.Glu166Asp",
"transcript": "NM_001369520.1",
"protein_id": "NP_001356449.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 721,
"cds_start": 498,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369520.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.498G>C",
"hgvs_p": "p.Glu166Asp",
"transcript": "ENST00000677479.1",
"protein_id": "ENSP00000503559.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 721,
"cds_start": 498,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677479.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.498G>C",
"hgvs_p": "p.Glu166Asp",
"transcript": "ENST00000679185.1",
"protein_id": "ENSP00000503332.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 721,
"cds_start": 498,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679185.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.498G>C",
"hgvs_p": "p.Glu166Asp",
"transcript": "ENST00000943799.1",
"protein_id": "ENSP00000613858.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 718,
"cds_start": 498,
"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": "ENST00000943799.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.498G>C",
"hgvs_p": "p.Glu166Asp",
"transcript": "ENST00000943792.1",
"protein_id": "ENSP00000613851.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 717,
"cds_start": 498,
"cds_end": null,
"cds_length": 2154,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943792.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.303G>C",
"hgvs_p": "p.Glu101Asp",
"transcript": "ENST00000943800.1",
"protein_id": "ENSP00000613859.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 705,
"cds_start": 303,
"cds_end": null,
"cds_length": 2118,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943800.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.204G>C",
"hgvs_p": "p.Glu68Asp",
"transcript": "ENST00000389272.7",
"protein_id": "ENSP00000373923.3",
"transcript_support_level": 2,
"aa_start": 68,
"aa_end": null,
"aa_length": 672,
"cds_start": 204,
"cds_end": null,
"cds_length": 2019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000389272.7"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.498G>C",
"hgvs_p": "p.Glu166Asp",
"transcript": "ENST00000943805.1",
"protein_id": "ENSP00000613864.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 551,
"cds_start": 498,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943805.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.498G>C",
"hgvs_p": "p.Glu166Asp",
"transcript": "XM_047436585.1",
"protein_id": "XP_047292541.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 722,
"cds_start": 498,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436585.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.498G>C",
"hgvs_p": "p.Glu166Asp",
"transcript": "XM_017024973.3",
"protein_id": "XP_016880462.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 721,
"cds_start": 498,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017024973.3"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "c.294G>C",
"hgvs_p": "p.Glu98Asp",
"transcript": "XM_047436586.1",
"protein_id": "XP_047292542.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 702,
"cds_start": 294,
"cds_end": null,
"cds_length": 2109,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436586.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "n.498G>C",
"hgvs_p": null,
"transcript": "ENST00000676636.1",
"protein_id": "ENSP00000504255.1",
"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": "ENST00000676636.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "n.498G>C",
"hgvs_p": null,
"transcript": "ENST00000677271.1",
"protein_id": "ENSP00000503912.1",
"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": "ENST00000677271.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "n.498G>C",
"hgvs_p": null,
"transcript": "ENST00000677308.1",
"protein_id": "ENSP00000503059.1",
"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": "ENST00000677308.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "n.698G>C",
"hgvs_p": null,
"transcript": "ENST00000677763.1",
"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": "ENST00000677763.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "n.498G>C",
"hgvs_p": null,
"transcript": "ENST00000677820.1",
"protein_id": "ENSP00000504715.1",
"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": "ENST00000677820.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "n.685G>C",
"hgvs_p": null,
"transcript": "ENST00000678108.1",
"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": "ENST00000678108.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "n.498G>C",
"hgvs_p": null,
"transcript": "ENST00000678445.1",
"protein_id": "ENSP00000503105.1",
"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": "ENST00000678445.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "n.666G>C",
"hgvs_p": null,
"transcript": "ENST00000678529.1",
"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": "ENST00000678529.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "n.717G>C",
"hgvs_p": null,
"transcript": "ENST00000678659.1",
"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": "ENST00000678659.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "n.697G>C",
"hgvs_p": null,
"transcript": "ENST00000678764.1",
"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": "ENST00000678764.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"hgvs_c": "n.523G>C",
"hgvs_p": null,
"transcript": "ENST00000679231.1",
"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": "ENST00000679231.1"
}
],
"gene_symbol": "STAT3",
"gene_hgnc_id": 11364,
"dbsnp": "rs1555568530",
"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": 0.7491292953491211,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.331,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9948,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.26,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.23,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_139276.3",
"gene_symbol": "STAT3",
"hgnc_id": 11364,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.498G>C",
"hgvs_p": "p.Glu166Asp"
}
],
"clinvar_disease": " autosomal dominant,Hyper-IgE recurrent infection syndrome 1,STAT3 gain of function",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Hyper-IgE recurrent infection syndrome 1, autosomal dominant;STAT3 gain of function",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}