← 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: 12-57096595-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=57096595&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 57096595,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000300134.8",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT6",
"gene_hgnc_id": 11368,
"hgvs_c": "c.2521C>G",
"hgvs_p": "p.Leu841Val",
"transcript": "NM_003153.5",
"protein_id": "NP_003144.3",
"transcript_support_level": null,
"aa_start": 841,
"aa_end": null,
"aa_length": 847,
"cds_start": 2521,
"cds_end": null,
"cds_length": 2544,
"cdna_start": 2776,
"cdna_end": null,
"cdna_length": 3963,
"mane_select": "ENST00000300134.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT6",
"gene_hgnc_id": 11368,
"hgvs_c": "c.2521C>G",
"hgvs_p": "p.Leu841Val",
"transcript": "ENST00000300134.8",
"protein_id": "ENSP00000300134.3",
"transcript_support_level": 1,
"aa_start": 841,
"aa_end": null,
"aa_length": 847,
"cds_start": 2521,
"cds_end": null,
"cds_length": 2544,
"cdna_start": 2776,
"cdna_end": null,
"cdna_length": 3963,
"mane_select": "NM_003153.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT6",
"gene_hgnc_id": 11368,
"hgvs_c": "c.2521C>G",
"hgvs_p": "p.Leu841Val",
"transcript": "ENST00000556155.5",
"protein_id": "ENSP00000451742.1",
"transcript_support_level": 1,
"aa_start": 841,
"aa_end": null,
"aa_length": 847,
"cds_start": 2521,
"cds_end": null,
"cds_length": 2544,
"cdna_start": 2670,
"cdna_end": null,
"cdna_length": 2924,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT6",
"gene_hgnc_id": 11368,
"hgvs_c": "c.2575C>G",
"hgvs_p": "p.Leu859Val",
"transcript": "ENST00000553533.2",
"protein_id": "ENSP00000451546.2",
"transcript_support_level": 3,
"aa_start": 859,
"aa_end": null,
"aa_length": 865,
"cds_start": 2575,
"cds_end": null,
"cds_length": 2598,
"cdna_start": 2901,
"cdna_end": null,
"cdna_length": 4018,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT6",
"gene_hgnc_id": 11368,
"hgvs_c": "c.2575C>G",
"hgvs_p": "p.Leu859Val",
"transcript": "ENST00000714374.1",
"protein_id": "ENSP00000519641.1",
"transcript_support_level": null,
"aa_start": 859,
"aa_end": null,
"aa_length": 865,
"cds_start": 2575,
"cds_end": null,
"cds_length": 2598,
"cdna_start": 2919,
"cdna_end": null,
"cdna_length": 3665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT6",
"gene_hgnc_id": 11368,
"hgvs_c": "c.2521C>G",
"hgvs_p": "p.Leu841Val",
"transcript": "NM_001178078.2",
"protein_id": "NP_001171549.1",
"transcript_support_level": null,
"aa_start": 841,
"aa_end": null,
"aa_length": 847,
"cds_start": 2521,
"cds_end": null,
"cds_length": 2544,
"cdna_start": 2795,
"cdna_end": null,
"cdna_length": 3982,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT6",
"gene_hgnc_id": 11368,
"hgvs_c": "c.2521C>G",
"hgvs_p": "p.Leu841Val",
"transcript": "NM_001178079.2",
"protein_id": "NP_001171550.1",
"transcript_support_level": null,
"aa_start": 841,
"aa_end": null,
"aa_length": 847,
"cds_start": 2521,
"cds_end": null,
"cds_length": 2544,
"cdna_start": 2755,
"cdna_end": null,
"cdna_length": 3942,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT6",
"gene_hgnc_id": 11368,
"hgvs_c": "c.2521C>G",
"hgvs_p": "p.Leu841Val",
"transcript": "ENST00000454075.7",
"protein_id": "ENSP00000401486.3",
"transcript_support_level": 2,
"aa_start": 841,
"aa_end": null,
"aa_length": 847,
"cds_start": 2521,
"cds_end": null,
"cds_length": 2544,
"cdna_start": 2807,
"cdna_end": null,
"cdna_length": 3037,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT6",
"gene_hgnc_id": 11368,
"hgvs_c": "c.2521C>G",
"hgvs_p": "p.Leu841Val",
"transcript": "ENST00000543873.6",
"protein_id": "ENSP00000438451.2",
"transcript_support_level": 2,
"aa_start": 841,
"aa_end": null,
"aa_length": 847,
"cds_start": 2521,
"cds_end": null,
"cds_length": 2544,
"cdna_start": 2772,
"cdna_end": null,
"cdna_length": 3119,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT6",
"gene_hgnc_id": 11368,
"hgvs_c": "c.2521C>G",
"hgvs_p": "p.Leu841Val",
"transcript": "ENST00000553275.2",
"protein_id": "ENSP00000450732.2",
"transcript_support_level": 3,
"aa_start": 841,
"aa_end": null,
"aa_length": 847,
"cds_start": 2521,
"cds_end": null,
"cds_length": 2544,
"cdna_start": 2997,
"cdna_end": null,
"cdna_length": 4150,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT6",
"gene_hgnc_id": 11368,
"hgvs_c": "c.2521C>G",
"hgvs_p": "p.Leu841Val",
"transcript": "ENST00000553397.6",
"protein_id": "ENSP00000452203.2",
"transcript_support_level": 4,
"aa_start": 841,
"aa_end": null,
"aa_length": 847,
"cds_start": 2521,
"cds_end": null,
"cds_length": 2544,
"cdna_start": 2824,
"cdna_end": null,
"cdna_length": 3969,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT6",
"gene_hgnc_id": 11368,
"hgvs_c": "c.2521C>G",
"hgvs_p": "p.Leu841Val",
"transcript": "ENST00000553499.6",
"protein_id": "ENSP00000451074.2",
"transcript_support_level": 4,
"aa_start": 841,
"aa_end": null,
"aa_length": 847,
"cds_start": 2521,
"cds_end": null,
"cds_length": 2544,
"cdna_start": 2661,
"cdna_end": null,
"cdna_length": 3838,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT6",
"gene_hgnc_id": 11368,
"hgvs_c": "c.2521C>G",
"hgvs_p": "p.Leu841Val",
"transcript": "ENST00000555849.6",
"protein_id": "ENSP00000452394.2",
"transcript_support_level": 4,
"aa_start": 841,
"aa_end": null,
"aa_length": 847,
"cds_start": 2521,
"cds_end": null,
"cds_length": 2544,
"cdna_start": 2704,
"cdna_end": null,
"cdna_length": 3450,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT6",
"gene_hgnc_id": 11368,
"hgvs_c": "c.2521C>G",
"hgvs_p": "p.Leu841Val",
"transcript": "ENST00000557635.6",
"protein_id": "ENSP00000450747.2",
"transcript_support_level": 4,
"aa_start": 841,
"aa_end": null,
"aa_length": 847,
"cds_start": 2521,
"cds_end": null,
"cds_length": 2544,
"cdna_start": 2942,
"cdna_end": null,
"cdna_length": 3686,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT6",
"gene_hgnc_id": 11368,
"hgvs_c": "c.2521C>G",
"hgvs_p": "p.Leu841Val",
"transcript": "ENST00000714371.1",
"protein_id": "ENSP00000519638.1",
"transcript_support_level": null,
"aa_start": 841,
"aa_end": null,
"aa_length": 847,
"cds_start": 2521,
"cds_end": null,
"cds_length": 2544,
"cdna_start": 2658,
"cdna_end": null,
"cdna_length": 3837,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT6",
"gene_hgnc_id": 11368,
"hgvs_c": "c.2521C>G",
"hgvs_p": "p.Leu841Val",
"transcript": "ENST00000714373.1",
"protein_id": "ENSP00000519640.1",
"transcript_support_level": null,
"aa_start": 841,
"aa_end": null,
"aa_length": 847,
"cds_start": 2521,
"cds_end": null,
"cds_length": 2544,
"cdna_start": 2846,
"cdna_end": null,
"cdna_length": 3996,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT6",
"gene_hgnc_id": 11368,
"hgvs_c": "c.2467C>G",
"hgvs_p": "p.Leu823Val",
"transcript": "ENST00000556259.6",
"protein_id": "ENSP00000452373.2",
"transcript_support_level": 3,
"aa_start": 823,
"aa_end": null,
"aa_length": 829,
"cds_start": 2467,
"cds_end": null,
"cds_length": 2490,
"cdna_start": 2709,
"cdna_end": null,
"cdna_length": 3888,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT6",
"gene_hgnc_id": 11368,
"hgvs_c": "c.2191C>G",
"hgvs_p": "p.Leu731Val",
"transcript": "NM_001178080.2",
"protein_id": "NP_001171551.1",
"transcript_support_level": null,
"aa_start": 731,
"aa_end": null,
"aa_length": 737,
"cds_start": 2191,
"cds_end": null,
"cds_length": 2214,
"cdna_start": 2639,
"cdna_end": null,
"cdna_length": 3826,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT6",
"gene_hgnc_id": 11368,
"hgvs_c": "c.2191C>G",
"hgvs_p": "p.Leu731Val",
"transcript": "NM_001178081.2",
"protein_id": "NP_001171552.1",
"transcript_support_level": null,
"aa_start": 731,
"aa_end": null,
"aa_length": 737,
"cds_start": 2191,
"cds_end": null,
"cds_length": 2214,
"cdna_start": 2500,
"cdna_end": null,
"cdna_length": 3687,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT6",
"gene_hgnc_id": 11368,
"hgvs_c": "c.2191C>G",
"hgvs_p": "p.Leu731Val",
"transcript": "ENST00000537215.6",
"protein_id": "ENSP00000444530.2",
"transcript_support_level": 2,
"aa_start": 731,
"aa_end": null,
"aa_length": 737,
"cds_start": 2191,
"cds_end": null,
"cds_length": 2214,
"cdna_start": 2636,
"cdna_end": null,
"cdna_length": 2886,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT6",
"gene_hgnc_id": 11368,
"hgvs_c": "c.2191C>G",
"hgvs_p": "p.Leu731Val",
"transcript": "ENST00000538913.6",
"protein_id": "ENSP00000445409.2",
"transcript_support_level": 2,
"aa_start": 731,
"aa_end": null,
"aa_length": 737,
"cds_start": 2191,
"cds_end": null,
"cds_length": 2214,
"cdna_start": 2484,
"cdna_end": null,
"cdna_length": 2879,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT6",
"gene_hgnc_id": 11368,
"hgvs_c": "c.2521C>G",
"hgvs_p": "p.Leu841Val",
"transcript": "XM_047429473.1",
"protein_id": "XP_047285429.1",
"transcript_support_level": null,
"aa_start": 841,
"aa_end": null,
"aa_length": 847,
"cds_start": 2521,
"cds_end": null,
"cds_length": 2544,
"cdna_start": 2810,
"cdna_end": null,
"cdna_length": 3997,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT6",
"gene_hgnc_id": 11368,
"hgvs_c": "c.2521C>G",
"hgvs_p": "p.Leu841Val",
"transcript": "XM_047429474.1",
"protein_id": "XP_047285430.1",
"transcript_support_level": null,
"aa_start": 841,
"aa_end": null,
"aa_length": 847,
"cds_start": 2521,
"cds_end": null,
"cds_length": 2544,
"cdna_start": 2946,
"cdna_end": null,
"cdna_length": 4133,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT6",
"gene_hgnc_id": 11368,
"hgvs_c": "c.2521C>G",
"hgvs_p": "p.Leu841Val",
"transcript": "XM_047429475.1",
"protein_id": "XP_047285431.1",
"transcript_support_level": null,
"aa_start": 841,
"aa_end": null,
"aa_length": 847,
"cds_start": 2521,
"cds_end": null,
"cds_length": 2544,
"cdna_start": 2844,
"cdna_end": null,
"cdna_length": 4031,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT6",
"gene_hgnc_id": 11368,
"hgvs_c": "c.1342C>G",
"hgvs_p": "p.Leu448Val",
"transcript": "XM_047429477.1",
"protein_id": "XP_047285433.1",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 454,
"cds_start": 1342,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 1574,
"cdna_end": null,
"cdna_length": 2761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT6",
"gene_hgnc_id": 11368,
"hgvs_c": "n.*2265C>G",
"hgvs_p": null,
"transcript": "ENST00000554764.6",
"protein_id": "ENSP00000451909.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3380,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT6",
"gene_hgnc_id": 11368,
"hgvs_c": "n.1494C>G",
"hgvs_p": null,
"transcript": "ENST00000555222.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2185,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT6",
"gene_hgnc_id": 11368,
"hgvs_c": "n.*324C>G",
"hgvs_p": null,
"transcript": "ENST00000555318.2",
"protein_id": "ENSP00000450428.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4024,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT6",
"gene_hgnc_id": 11368,
"hgvs_c": "n.519C>G",
"hgvs_p": null,
"transcript": "ENST00000557563.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 871,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT6",
"gene_hgnc_id": 11368,
"hgvs_c": "n.*311C>G",
"hgvs_p": null,
"transcript": "ENST00000651176.1",
"protein_id": "ENSP00000498693.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3869,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT6",
"gene_hgnc_id": 11368,
"hgvs_c": "n.*1356C>G",
"hgvs_p": null,
"transcript": "ENST00000714370.1",
"protein_id": "ENSP00000519637.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4123,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT6",
"gene_hgnc_id": 11368,
"hgvs_c": "n.*626C>G",
"hgvs_p": null,
"transcript": "ENST00000714372.1",
"protein_id": "ENSP00000519639.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3686,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT6",
"gene_hgnc_id": 11368,
"hgvs_c": "n.2637C>G",
"hgvs_p": null,
"transcript": "NR_033659.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3824,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT6",
"gene_hgnc_id": 11368,
"hgvs_c": "n.*2265C>G",
"hgvs_p": null,
"transcript": "ENST00000554764.6",
"protein_id": "ENSP00000451909.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3380,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT6",
"gene_hgnc_id": 11368,
"hgvs_c": "n.*324C>G",
"hgvs_p": null,
"transcript": "ENST00000555318.2",
"protein_id": "ENSP00000450428.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4024,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT6",
"gene_hgnc_id": 11368,
"hgvs_c": "n.*311C>G",
"hgvs_p": null,
"transcript": "ENST00000651176.1",
"protein_id": "ENSP00000498693.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3869,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT6",
"gene_hgnc_id": 11368,
"hgvs_c": "n.*1356C>G",
"hgvs_p": null,
"transcript": "ENST00000714370.1",
"protein_id": "ENSP00000519637.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4123,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT6",
"gene_hgnc_id": 11368,
"hgvs_c": "n.*626C>G",
"hgvs_p": null,
"transcript": "ENST00000714372.1",
"protein_id": "ENSP00000519639.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3686,
"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": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT6",
"gene_hgnc_id": 11368,
"hgvs_c": "c.*128C>G",
"hgvs_p": null,
"transcript": "ENST00000640254.2",
"protein_id": "ENSP00000491116.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 796,
"cds_start": -4,
"cds_end": null,
"cds_length": 2393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2728,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "STAT6",
"gene_hgnc_id": 11368,
"dbsnp": "rs3024978",
"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": 0.14820566773414612,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.258,
"revel_prediction": "Benign",
"alphamissense_score": 0.086,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.11,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.032,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000300134.8",
"gene_symbol": "STAT6",
"hgnc_id": 11368,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2521C>G",
"hgvs_p": "p.Leu841Val"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}