← 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: 1-151097954-GTT-ATC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=151097954&ref=GTT&alt=ATC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "GABPB2",
"hgnc_id": 28441,
"hgvs_c": "c.622_624delGTTinsATC",
"hgvs_p": "p.Val208Ile",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001323910.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "ATC",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 448,
"aa_ref": "V",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8807,
"cdna_start": 748,
"cds_end": null,
"cds_length": 1347,
"cds_start": 574,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_144618.3",
"gene_hgnc_id": 28441,
"gene_symbol": "GABPB2",
"hgvs_c": "c.574_576delGTTinsATC",
"hgvs_p": "p.Val192Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000368918.8",
"protein_coding": true,
"protein_id": "NP_653219.1",
"strand": true,
"transcript": "NM_144618.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 448,
"aa_ref": "V",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8807,
"cdna_start": 748,
"cds_end": null,
"cds_length": 1347,
"cds_start": 574,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000368918.8",
"gene_hgnc_id": 28441,
"gene_symbol": "GABPB2",
"hgvs_c": "c.574_576delGTTinsATC",
"hgvs_p": "p.Val192Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_144618.3",
"protein_coding": true,
"protein_id": "ENSP00000357914.3",
"strand": true,
"transcript": "ENST00000368918.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1017,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000467551.1",
"gene_hgnc_id": 28441,
"gene_symbol": "GABPB2",
"hgvs_c": "n.244_246delGTTinsATC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000467551.1",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 464,
"aa_ref": "V",
"aa_start": 208,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8855,
"cdna_start": 796,
"cds_end": null,
"cds_length": 1395,
"cds_start": 622,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001323910.2",
"gene_hgnc_id": 28441,
"gene_symbol": "GABPB2",
"hgvs_c": "c.622_624delGTTinsATC",
"hgvs_p": "p.Val208Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310839.1",
"strand": true,
"transcript": "NM_001323910.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 464,
"aa_ref": "V",
"aa_start": 208,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1733,
"cdna_start": 739,
"cds_end": null,
"cds_length": 1395,
"cds_start": 622,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000931884.1",
"gene_hgnc_id": 28441,
"gene_symbol": "GABPB2",
"hgvs_c": "c.622_624delGTTinsATC",
"hgvs_p": "p.Val208Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601943.1",
"strand": true,
"transcript": "ENST00000931884.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 464,
"aa_ref": "V",
"aa_start": 208,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3531,
"cdna_start": 1043,
"cds_end": null,
"cds_length": 1395,
"cds_start": 622,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000947109.1",
"gene_hgnc_id": 28441,
"gene_symbol": "GABPB2",
"hgvs_c": "c.622_624delGTTinsATC",
"hgvs_p": "p.Val208Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617168.1",
"strand": true,
"transcript": "ENST00000947109.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 452,
"aa_ref": "V",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2760,
"cdna_start": 748,
"cds_end": null,
"cds_length": 1359,
"cds_start": 574,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001323906.2",
"gene_hgnc_id": 28441,
"gene_symbol": "GABPB2",
"hgvs_c": "c.574_576delGTTinsATC",
"hgvs_p": "p.Val192Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310835.1",
"strand": true,
"transcript": "NM_001323906.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 448,
"aa_ref": "V",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8839,
"cdna_start": 780,
"cds_end": null,
"cds_length": 1347,
"cds_start": 574,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001323908.2",
"gene_hgnc_id": 28441,
"gene_symbol": "GABPB2",
"hgvs_c": "c.574_576delGTTinsATC",
"hgvs_p": "p.Val192Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310837.1",
"strand": true,
"transcript": "NM_001323908.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 448,
"aa_ref": "V",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2420,
"cdna_start": 753,
"cds_end": null,
"cds_length": 1347,
"cds_start": 574,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000897349.1",
"gene_hgnc_id": 28441,
"gene_symbol": "GABPB2",
"hgvs_c": "c.574_576delGTTinsATC",
"hgvs_p": "p.Val192Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567408.1",
"strand": true,
"transcript": "ENST00000897349.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 448,
"aa_ref": "V",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1884,
"cdna_start": 1059,
"cds_end": null,
"cds_length": 1347,
"cds_start": 574,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000897351.1",
"gene_hgnc_id": 28441,
"gene_symbol": "GABPB2",
"hgvs_c": "c.574_576delGTTinsATC",
"hgvs_p": "p.Val192Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567410.1",
"strand": true,
"transcript": "ENST00000897351.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 448,
"aa_ref": "V",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2149,
"cdna_start": 1143,
"cds_end": null,
"cds_length": 1347,
"cds_start": 574,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000947114.1",
"gene_hgnc_id": 28441,
"gene_symbol": "GABPB2",
"hgvs_c": "c.574_576delGTTinsATC",
"hgvs_p": "p.Val192Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617173.1",
"strand": true,
"transcript": "ENST00000947114.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 448,
"aa_ref": "V",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1862,
"cdna_start": 859,
"cds_end": null,
"cds_length": 1347,
"cds_start": 574,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000947117.1",
"gene_hgnc_id": 28441,
"gene_symbol": "GABPB2",
"hgvs_c": "c.574_576delGTTinsATC",
"hgvs_p": "p.Val192Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617176.1",
"strand": true,
"transcript": "ENST00000947117.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 448,
"aa_ref": "V",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2920,
"cdna_start": 1259,
"cds_end": null,
"cds_length": 1347,
"cds_start": 574,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000947119.1",
"gene_hgnc_id": 28441,
"gene_symbol": "GABPB2",
"hgvs_c": "c.574_576delGTTinsATC",
"hgvs_p": "p.Val192Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617178.1",
"strand": true,
"transcript": "ENST00000947119.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 426,
"aa_ref": "V",
"aa_start": 208,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2057,
"cdna_start": 882,
"cds_end": null,
"cds_length": 1281,
"cds_start": 622,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000897353.1",
"gene_hgnc_id": 28441,
"gene_symbol": "GABPB2",
"hgvs_c": "c.622_624delGTTinsATC",
"hgvs_p": "p.Val208Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567412.1",
"strand": true,
"transcript": "ENST00000897353.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 426,
"aa_ref": "V",
"aa_start": 208,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1523,
"cdna_start": 785,
"cds_end": null,
"cds_length": 1281,
"cds_start": 622,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000931883.1",
"gene_hgnc_id": 28441,
"gene_symbol": "GABPB2",
"hgvs_c": "c.622_624delGTTinsATC",
"hgvs_p": "p.Val208Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601942.1",
"strand": true,
"transcript": "ENST00000931883.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 426,
"aa_ref": "V",
"aa_start": 208,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1847,
"cdna_start": 912,
"cds_end": null,
"cds_length": 1281,
"cds_start": 622,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000947115.1",
"gene_hgnc_id": 28441,
"gene_symbol": "GABPB2",
"hgvs_c": "c.622_624delGTTinsATC",
"hgvs_p": "p.Val208Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617174.1",
"strand": true,
"transcript": "ENST00000947115.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 414,
"aa_ref": "V",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2646,
"cdna_start": 748,
"cds_end": null,
"cds_length": 1245,
"cds_start": 574,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001323911.2",
"gene_hgnc_id": 28441,
"gene_symbol": "GABPB2",
"hgvs_c": "c.574_576delGTTinsATC",
"hgvs_p": "p.Val192Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310840.1",
"strand": true,
"transcript": "NM_001323911.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 410,
"aa_ref": "V",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8693,
"cdna_start": 748,
"cds_end": null,
"cds_length": 1233,
"cds_start": 574,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001323909.2",
"gene_hgnc_id": 28441,
"gene_symbol": "GABPB2",
"hgvs_c": "c.574_576delGTTinsATC",
"hgvs_p": "p.Val192Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310838.1",
"strand": true,
"transcript": "NM_001323909.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 410,
"aa_ref": "V",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1680,
"cdna_start": 606,
"cds_end": null,
"cds_length": 1233,
"cds_start": 574,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000368916.1",
"gene_hgnc_id": 28441,
"gene_symbol": "GABPB2",
"hgvs_c": "c.574_576delGTTinsATC",
"hgvs_p": "p.Val192Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000357912.1",
"strand": true,
"transcript": "ENST00000368916.1",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 410,
"aa_ref": "V",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3228,
"cdna_start": 890,
"cds_end": null,
"cds_length": 1233,
"cds_start": 574,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000897348.1",
"gene_hgnc_id": 28441,
"gene_symbol": "GABPB2",
"hgvs_c": "c.574_576delGTTinsATC",
"hgvs_p": "p.Val192Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567407.1",
"strand": true,
"transcript": "ENST00000897348.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 410,
"aa_ref": "V",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1960,
"cdna_start": 1025,
"cds_end": null,
"cds_length": 1233,
"cds_start": 574,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000897350.1",
"gene_hgnc_id": 28441,
"gene_symbol": "GABPB2",
"hgvs_c": "c.574_576delGTTinsATC",
"hgvs_p": "p.Val192Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567409.1",
"strand": true,
"transcript": "ENST00000897350.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 410,
"aa_ref": "V",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1565,
"cdna_start": 675,
"cds_end": null,
"cds_length": 1233,
"cds_start": 574,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000897352.1",
"gene_hgnc_id": 28441,
"gene_symbol": "GABPB2",
"hgvs_c": "c.574_576delGTTinsATC",
"hgvs_p": "p.Val192Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567411.1",
"strand": true,
"transcript": "ENST00000897352.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 408,
"aa_ref": "V",
"aa_start": 152,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2966,
"cdna_start": 715,
"cds_end": null,
"cds_length": 1227,
"cds_start": 454,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000947112.1",
"gene_hgnc_id": 28441,
"gene_symbol": "GABPB2",
"hgvs_c": "c.454_456delGTTinsATC",
"hgvs_p": "p.Val152Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617171.1",
"strand": true,
"transcript": "ENST00000947112.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 408,
"aa_ref": "V",
"aa_start": 152,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1763,
"cdna_start": 714,
"cds_end": null,
"cds_length": 1227,
"cds_start": 454,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000947116.1",
"gene_hgnc_id": 28441,
"gene_symbol": "GABPB2",
"hgvs_c": "c.454_456delGTTinsATC",
"hgvs_p": "p.Val152Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617175.1",
"strand": true,
"transcript": "ENST00000947116.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 392,
"aa_ref": "V",
"aa_start": 136,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8639,
"cdna_start": 580,
"cds_end": null,
"cds_length": 1179,
"cds_start": 406,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001323913.2",
"gene_hgnc_id": 28441,
"gene_symbol": "GABPB2",
"hgvs_c": "c.406_408delGTTinsATC",
"hgvs_p": "p.Val136Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310842.1",
"strand": true,
"transcript": "NM_001323913.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 392,
"aa_ref": "V",
"aa_start": 136,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3044,
"cdna_start": 607,
"cds_end": null,
"cds_length": 1179,
"cds_start": 406,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000947110.1",
"gene_hgnc_id": 28441,
"gene_symbol": "GABPB2",
"hgvs_c": "c.406_408delGTTinsATC",
"hgvs_p": "p.Val136Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617169.1",
"strand": true,
"transcript": "ENST00000947110.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 392,
"aa_ref": "V",
"aa_start": 136,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1861,
"cdna_start": 685,
"cds_end": null,
"cds_length": 1179,
"cds_start": 406,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000947113.1",
"gene_hgnc_id": 28441,
"gene_symbol": "GABPB2",
"hgvs_c": "c.406_408delGTTinsATC",
"hgvs_p": "p.Val136Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617172.1",
"strand": true,
"transcript": "ENST00000947113.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 392,
"aa_ref": "V",
"aa_start": 136,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1723,
"cdna_start": 720,
"cds_end": null,
"cds_length": 1179,
"cds_start": 406,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000947118.1",
"gene_hgnc_id": 28441,
"gene_symbol": "GABPB2",
"hgvs_c": "c.406_408delGTTinsATC",
"hgvs_p": "p.Val136Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617177.1",
"strand": true,
"transcript": "ENST00000947118.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 370,
"aa_ref": "V",
"aa_start": 152,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8573,
"cdna_start": 628,
"cds_end": null,
"cds_length": 1113,
"cds_start": 454,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001323907.2",
"gene_hgnc_id": 28441,
"gene_symbol": "GABPB2",
"hgvs_c": "c.454_456delGTTinsATC",
"hgvs_p": "p.Val152Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310836.1",
"strand": true,
"transcript": "NM_001323907.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 354,
"aa_ref": "V",
"aa_start": 136,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8644,
"cdna_start": 699,
"cds_end": null,
"cds_length": 1065,
"cds_start": 406,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001323912.2",
"gene_hgnc_id": 28441,
"gene_symbol": "GABPB2",
"hgvs_c": "c.406_408delGTTinsATC",
"hgvs_p": "p.Val136Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310841.1",
"strand": true,
"transcript": "NM_001323912.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 354,
"aa_ref": "V",
"aa_start": 136,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2899,
"cdna_start": 578,
"cds_end": null,
"cds_length": 1065,
"cds_start": 406,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000947111.1",
"gene_hgnc_id": 28441,
"gene_symbol": "GABPB2",
"hgvs_c": "c.406_408delGTTinsATC",
"hgvs_p": "p.Val136Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617170.1",
"strand": true,
"transcript": "ENST00000947111.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 833,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000486076.5",
"gene_hgnc_id": 28441,
"gene_symbol": "GABPB2",
"hgvs_c": "n.785_787delGTTinsATC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000486076.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 915,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000489549.5",
"gene_hgnc_id": 28441,
"gene_symbol": "GABPB2",
"hgvs_c": "n.612_614delGTTinsATC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000489549.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1011,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000462520.5",
"gene_hgnc_id": 28441,
"gene_symbol": "GABPB2",
"hgvs_c": "n.*39_*41delGTTinsATC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000462520.5",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 28441,
"gene_symbol": "GABPB2",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 6.44,
"pos": 151097954,
"ref": "GTT",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_001323910.2"
}
]
}