← 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: 3-177046179-A-AT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=177046179&ref=A&alt=AT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 177046179,
"ref": "A",
"alt": "AT",
"effect": "frameshift_variant",
"transcript": "ENST00000457928.7",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.874dupA",
"hgvs_p": "p.Ile292fs",
"transcript": "NM_024665.7",
"protein_id": "NP_078941.2",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 514,
"cds_start": 874,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 1357,
"cdna_end": null,
"cdna_length": 8182,
"mane_select": "ENST00000457928.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "N?",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.874dupA",
"hgvs_p": "p.Ile292fs",
"transcript": "ENST00000457928.7",
"protein_id": "ENSP00000413251.3",
"transcript_support_level": 1,
"aa_start": 292,
"aa_end": null,
"aa_length": 514,
"cds_start": 874,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 1357,
"cdna_end": null,
"cdna_length": 8182,
"mane_select": "NM_024665.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.874dupA",
"hgvs_p": "p.Ile292fs",
"transcript": "ENST00000430069.5",
"protein_id": "ENSP00000405574.1",
"transcript_support_level": 1,
"aa_start": 292,
"aa_end": null,
"aa_length": 514,
"cds_start": 874,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 1134,
"cdna_end": null,
"cdna_length": 7948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.874dupA",
"hgvs_p": "p.Ile292fs",
"transcript": "NM_001321193.3",
"protein_id": "NP_001308122.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 514,
"cds_start": 874,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 1134,
"cdna_end": null,
"cdna_length": 7959,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.874dupA",
"hgvs_p": "p.Ile292fs",
"transcript": "NM_001321194.3",
"protein_id": "NP_001308123.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 514,
"cds_start": 874,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 1476,
"cdna_end": null,
"cdna_length": 8301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.874dupA",
"hgvs_p": "p.Ile292fs",
"transcript": "NM_001374327.1",
"protein_id": "NP_001361256.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 514,
"cds_start": 874,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 1281,
"cdna_end": null,
"cdna_length": 8106,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.874dupA",
"hgvs_p": "p.Ile292fs",
"transcript": "NM_001374328.1",
"protein_id": "NP_001361257.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 514,
"cds_start": 874,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 1164,
"cdna_end": null,
"cdna_length": 7989,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.874dupA",
"hgvs_p": "p.Ile292fs",
"transcript": "NM_001374329.1",
"protein_id": "NP_001361258.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 514,
"cds_start": 874,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 1145,
"cdna_end": null,
"cdna_length": 7970,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.874dupA",
"hgvs_p": "p.Ile292fs",
"transcript": "ENST00000352800.10",
"protein_id": "ENSP00000263964.11",
"transcript_support_level": 5,
"aa_start": 292,
"aa_end": null,
"aa_length": 514,
"cds_start": 874,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 1051,
"cdna_end": null,
"cdna_length": 2454,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.874dupA",
"hgvs_p": "p.Ile292fs",
"transcript": "ENST00000422066.6",
"protein_id": "ENSP00000398477.2",
"transcript_support_level": 4,
"aa_start": 292,
"aa_end": null,
"aa_length": 514,
"cds_start": 874,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 1218,
"cdna_end": null,
"cdna_length": 2619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.874dupA",
"hgvs_p": "p.Ile292fs",
"transcript": "ENST00000422442.6",
"protein_id": "ENSP00000387849.3",
"transcript_support_level": 5,
"aa_start": 292,
"aa_end": null,
"aa_length": 514,
"cds_start": 874,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 1221,
"cdna_end": null,
"cdna_length": 2535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.874dupA",
"hgvs_p": "p.Ile292fs",
"transcript": "ENST00000673974.1",
"protein_id": "ENSP00000501274.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 514,
"cds_start": 874,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 1105,
"cdna_end": null,
"cdna_length": 6502,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.874dupA",
"hgvs_p": "p.Ile292fs",
"transcript": "ENST00000704383.1",
"protein_id": "ENSP00000515885.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 514,
"cds_start": 874,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 1269,
"cdna_end": null,
"cdna_length": 8082,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.874dupA",
"hgvs_p": "p.Ile292fs",
"transcript": "ENST00000704384.1",
"protein_id": "ENSP00000515886.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 514,
"cds_start": 874,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 1065,
"cdna_end": null,
"cdna_length": 1991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.874dupA",
"hgvs_p": "p.Ile292fs",
"transcript": "ENST00000704385.1",
"protein_id": "ENSP00000515887.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 514,
"cds_start": 874,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 1180,
"cdna_end": null,
"cdna_length": 1902,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.613dupA",
"hgvs_p": "p.Ile205fs",
"transcript": "NM_001321195.3",
"protein_id": "NP_001308124.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 427,
"cds_start": 613,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 1031,
"cdna_end": null,
"cdna_length": 7856,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.613dupA",
"hgvs_p": "p.Ile205fs",
"transcript": "NM_001374330.1",
"protein_id": "NP_001361259.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 427,
"cds_start": 613,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 1254,
"cdna_end": null,
"cdna_length": 8079,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.613dupA",
"hgvs_p": "p.Ile205fs",
"transcript": "ENST00000431421.6",
"protein_id": "ENSP00000402402.2",
"transcript_support_level": 4,
"aa_start": 205,
"aa_end": null,
"aa_length": 427,
"cds_start": 613,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 997,
"cdna_end": null,
"cdna_length": 3814,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.913dupA",
"hgvs_p": "p.Ile305fs",
"transcript": "XM_047448941.1",
"protein_id": "XP_047304897.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 527,
"cds_start": 913,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 4096,
"cdna_end": null,
"cdna_length": 10921,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.904dupA",
"hgvs_p": "p.Ile302fs",
"transcript": "XM_047448942.1",
"protein_id": "XP_047304898.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 524,
"cds_start": 904,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 1341,
"cdna_end": null,
"cdna_length": 8166,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.904dupA",
"hgvs_p": "p.Ile302fs",
"transcript": "XM_047448943.1",
"protein_id": "XP_047304899.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 524,
"cds_start": 904,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 1118,
"cdna_end": null,
"cdna_length": 7943,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.874dupA",
"hgvs_p": "p.Ile292fs",
"transcript": "XM_011513142.3",
"protein_id": "XP_011511444.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 514,
"cds_start": 874,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 1400,
"cdna_end": null,
"cdna_length": 8225,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.874dupA",
"hgvs_p": "p.Ile292fs",
"transcript": "XM_047448944.1",
"protein_id": "XP_047304900.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 514,
"cds_start": 874,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 1151,
"cdna_end": null,
"cdna_length": 7976,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.874dupA",
"hgvs_p": "p.Ile292fs",
"transcript": "XM_047448945.1",
"protein_id": "XP_047304901.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 514,
"cds_start": 874,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 992,
"cdna_end": null,
"cdna_length": 7817,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.874dupA",
"hgvs_p": "p.Ile292fs",
"transcript": "XM_047448946.1",
"protein_id": "XP_047304902.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 514,
"cds_start": 874,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 1110,
"cdna_end": null,
"cdna_length": 7935,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.874dupA",
"hgvs_p": "p.Ile292fs",
"transcript": "XM_047448947.1",
"protein_id": "XP_047304903.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 514,
"cds_start": 874,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 1001,
"cdna_end": null,
"cdna_length": 7826,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.874dupA",
"hgvs_p": "p.Ile292fs",
"transcript": "XM_047448949.1",
"protein_id": "XP_047304905.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 514,
"cds_start": 874,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 1368,
"cdna_end": null,
"cdna_length": 8193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.613dupA",
"hgvs_p": "p.Ile205fs",
"transcript": "XM_047448940.1",
"protein_id": "XP_047304896.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 427,
"cds_start": 613,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 954,
"cdna_end": null,
"cdna_length": 7779,
"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": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "n.874dupA",
"hgvs_p": null,
"transcript": "ENST00000631253.2",
"protein_id": "ENSP00000486324.1",
"transcript_support_level": 5,
"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": 4186,
"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": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "n.478dupA",
"hgvs_p": null,
"transcript": "ENST00000637659.1",
"protein_id": "ENSP00000490514.1",
"transcript_support_level": 5,
"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": 3105,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TBL1XR1-AS1",
"gene_hgnc_id": 41243,
"hgvs_c": "n.124+1196dupT",
"hgvs_p": null,
"transcript": "ENST00000454723.2",
"protein_id": null,
"transcript_support_level": 5,
"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": 414,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TBL1XR1-AS1",
"gene_hgnc_id": 41243,
"hgvs_c": "n.529+1184dupT",
"hgvs_p": null,
"transcript": "ENST00000617758.2",
"protein_id": null,
"transcript_support_level": 5,
"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": 1037,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TBL1XR1-AS1",
"gene_hgnc_id": 41243,
"hgvs_c": "n.517+1196dupT",
"hgvs_p": null,
"transcript": "NR_174966.1",
"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": 807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TBL1XR1",
"gene_hgnc_id": 29529,
"dbsnp": "rs1553813646",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 7.615,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "ENST00000457928.7",
"gene_symbol": "TBL1XR1",
"hgnc_id": 29529,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.874dupA",
"hgvs_p": "p.Ile292fs"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "NR_174966.1",
"gene_symbol": "TBL1XR1-AS1",
"hgnc_id": 41243,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.517+1196dupT",
"hgvs_p": null
}
],
"clinvar_disease": " autosomal dominant 41,Intellectual disability",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Intellectual disability, autosomal dominant 41",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}