← 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: 4-46250458-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=46250458&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 46250458,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001330690.2",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRA2",
"gene_hgnc_id": 4076,
"hgvs_c": "c.1206C>G",
"hgvs_p": "p.Asn402Lys",
"transcript": "NM_000807.4",
"protein_id": "NP_000798.2",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 451,
"cds_start": 1206,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000381620.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000807.4"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRA2",
"gene_hgnc_id": 4076,
"hgvs_c": "c.1206C>G",
"hgvs_p": "p.Asn402Lys",
"transcript": "ENST00000381620.9",
"protein_id": "ENSP00000371033.4",
"transcript_support_level": 1,
"aa_start": 402,
"aa_end": null,
"aa_length": 451,
"cds_start": 1206,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000807.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381620.9"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRA2",
"gene_hgnc_id": 4076,
"hgvs_c": "c.1386C>G",
"hgvs_p": "p.Asn462Lys",
"transcript": "NM_001330690.2",
"protein_id": "NP_001317619.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 511,
"cds_start": 1386,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330690.2"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRA2",
"gene_hgnc_id": 4076,
"hgvs_c": "c.1386C>G",
"hgvs_p": "p.Asn462Lys",
"transcript": "NM_001377144.1",
"protein_id": "NP_001364073.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 511,
"cds_start": 1386,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377144.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRA2",
"gene_hgnc_id": 4076,
"hgvs_c": "c.1386C>G",
"hgvs_p": "p.Asn462Lys",
"transcript": "NM_001377145.1",
"protein_id": "NP_001364074.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 511,
"cds_start": 1386,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377145.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRA2",
"gene_hgnc_id": 4076,
"hgvs_c": "c.1386C>G",
"hgvs_p": "p.Asn462Lys",
"transcript": "ENST00000507069.5",
"protein_id": "ENSP00000427603.1",
"transcript_support_level": 3,
"aa_start": 462,
"aa_end": null,
"aa_length": 511,
"cds_start": 1386,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000507069.5"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRA2",
"gene_hgnc_id": 4076,
"hgvs_c": "c.1284C>G",
"hgvs_p": "p.Asn428Lys",
"transcript": "ENST00000863565.1",
"protein_id": "ENSP00000533624.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 477,
"cds_start": 1284,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863565.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRA2",
"gene_hgnc_id": 4076,
"hgvs_c": "c.1221C>G",
"hgvs_p": "p.Asn407Lys",
"transcript": "NM_001286827.3",
"protein_id": "NP_001273756.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 456,
"cds_start": 1221,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286827.3"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRA2",
"gene_hgnc_id": 4076,
"hgvs_c": "c.1206C>G",
"hgvs_p": "p.Asn402Lys",
"transcript": "NM_001114175.3",
"protein_id": "NP_001107647.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 451,
"cds_start": 1206,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001114175.3"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRA2",
"gene_hgnc_id": 4076,
"hgvs_c": "c.1206C>G",
"hgvs_p": "p.Asn402Lys",
"transcript": "NM_001377146.1",
"protein_id": "NP_001364075.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 451,
"cds_start": 1206,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377146.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRA2",
"gene_hgnc_id": 4076,
"hgvs_c": "c.1206C>G",
"hgvs_p": "p.Asn402Lys",
"transcript": "NM_001377147.1",
"protein_id": "NP_001364076.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 451,
"cds_start": 1206,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377147.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRA2",
"gene_hgnc_id": 4076,
"hgvs_c": "c.1206C>G",
"hgvs_p": "p.Asn402Lys",
"transcript": "NM_001377148.1",
"protein_id": "NP_001364077.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 451,
"cds_start": 1206,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377148.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRA2",
"gene_hgnc_id": 4076,
"hgvs_c": "c.1206C>G",
"hgvs_p": "p.Asn402Lys",
"transcript": "NM_001377149.1",
"protein_id": "NP_001364078.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 451,
"cds_start": 1206,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377149.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRA2",
"gene_hgnc_id": 4076,
"hgvs_c": "c.1206C>G",
"hgvs_p": "p.Asn402Lys",
"transcript": "NM_001377150.1",
"protein_id": "NP_001364079.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 451,
"cds_start": 1206,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377150.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRA2",
"gene_hgnc_id": 4076,
"hgvs_c": "c.1206C>G",
"hgvs_p": "p.Asn402Lys",
"transcript": "NM_001377151.1",
"protein_id": "NP_001364080.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 451,
"cds_start": 1206,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377151.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRA2",
"gene_hgnc_id": 4076,
"hgvs_c": "c.1206C>G",
"hgvs_p": "p.Asn402Lys",
"transcript": "ENST00000356504.5",
"protein_id": "ENSP00000348897.1",
"transcript_support_level": 2,
"aa_start": 402,
"aa_end": null,
"aa_length": 451,
"cds_start": 1206,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356504.5"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRA2",
"gene_hgnc_id": 4076,
"hgvs_c": "c.1206C>G",
"hgvs_p": "p.Asn402Lys",
"transcript": "ENST00000510861.5",
"protein_id": "ENSP00000421828.1",
"transcript_support_level": 5,
"aa_start": 402,
"aa_end": null,
"aa_length": 451,
"cds_start": 1206,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000510861.5"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRA2",
"gene_hgnc_id": 4076,
"hgvs_c": "c.1206C>G",
"hgvs_p": "p.Asn402Lys",
"transcript": "ENST00000514090.5",
"protein_id": "ENSP00000421300.1",
"transcript_support_level": 5,
"aa_start": 402,
"aa_end": null,
"aa_length": 451,
"cds_start": 1206,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000514090.5"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRA2",
"gene_hgnc_id": 4076,
"hgvs_c": "c.1206C>G",
"hgvs_p": "p.Asn402Lys",
"transcript": "ENST00000863563.1",
"protein_id": "ENSP00000533622.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 451,
"cds_start": 1206,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863563.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRA2",
"gene_hgnc_id": 4076,
"hgvs_c": "c.1206C>G",
"hgvs_p": "p.Asn402Lys",
"transcript": "ENST00000863564.1",
"protein_id": "ENSP00000533623.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 451,
"cds_start": 1206,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863564.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRA2",
"gene_hgnc_id": 4076,
"hgvs_c": "c.1206C>G",
"hgvs_p": "p.Asn402Lys",
"transcript": "ENST00000863568.1",
"protein_id": "ENSP00000533627.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 451,
"cds_start": 1206,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863568.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRA2",
"gene_hgnc_id": 4076,
"hgvs_c": "c.1206C>G",
"hgvs_p": "p.Asn402Lys",
"transcript": "ENST00000960092.1",
"protein_id": "ENSP00000630151.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 451,
"cds_start": 1206,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960092.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRA2",
"gene_hgnc_id": 4076,
"hgvs_c": "c.1206C>G",
"hgvs_p": "p.Asn402Lys",
"transcript": "ENST00000960093.1",
"protein_id": "ENSP00000630152.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 451,
"cds_start": 1206,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960093.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRA2",
"gene_hgnc_id": 4076,
"hgvs_c": "c.1134C>G",
"hgvs_p": "p.Asn378Lys",
"transcript": "ENST00000540012.5",
"protein_id": "ENSP00000444409.2",
"transcript_support_level": 5,
"aa_start": 378,
"aa_end": null,
"aa_length": 427,
"cds_start": 1134,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000540012.5"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRA2",
"gene_hgnc_id": 4076,
"hgvs_c": "c.1053C>G",
"hgvs_p": "p.Asn351Lys",
"transcript": "ENST00000863566.1",
"protein_id": "ENSP00000533625.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 400,
"cds_start": 1053,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863566.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRA2",
"gene_hgnc_id": 4076,
"hgvs_c": "c.1053C>G",
"hgvs_p": "p.Asn351Lys",
"transcript": "ENST00000863567.1",
"protein_id": "ENSP00000533626.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 400,
"cds_start": 1053,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863567.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRA2",
"gene_hgnc_id": 4076,
"hgvs_c": "c.1053C>G",
"hgvs_p": "p.Asn351Lys",
"transcript": "ENST00000960094.1",
"protein_id": "ENSP00000630153.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 400,
"cds_start": 1053,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960094.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRA2",
"gene_hgnc_id": 4076,
"hgvs_c": "c.1041C>G",
"hgvs_p": "p.Asn347Lys",
"transcript": "NM_001377152.1",
"protein_id": "NP_001364081.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 396,
"cds_start": 1041,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377152.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRA2",
"gene_hgnc_id": 4076,
"hgvs_c": "c.1041C>G",
"hgvs_p": "p.Asn347Lys",
"transcript": "NM_001377153.1",
"protein_id": "NP_001364082.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 396,
"cds_start": 1041,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377153.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRA2",
"gene_hgnc_id": 4076,
"hgvs_c": "c.1041C>G",
"hgvs_p": "p.Asn347Lys",
"transcript": "NM_001377154.1",
"protein_id": "NP_001364083.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 396,
"cds_start": 1041,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377154.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRA2",
"gene_hgnc_id": 4076,
"hgvs_c": "c.1386C>G",
"hgvs_p": "p.Asn462Lys",
"transcript": "XM_011513675.2",
"protein_id": "XP_011511977.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 511,
"cds_start": 1386,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513675.2"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRA2",
"gene_hgnc_id": 4076,
"hgvs_c": "c.1386C>G",
"hgvs_p": "p.Asn462Lys",
"transcript": "XM_024453964.2",
"protein_id": "XP_024309732.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 511,
"cds_start": 1386,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453964.2"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRA2",
"gene_hgnc_id": 4076,
"hgvs_c": "c.1386C>G",
"hgvs_p": "p.Asn462Lys",
"transcript": "XM_024453966.2",
"protein_id": "XP_024309734.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 511,
"cds_start": 1386,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453966.2"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRA2",
"gene_hgnc_id": 4076,
"hgvs_c": "c.1386C>G",
"hgvs_p": "p.Asn462Lys",
"transcript": "XM_024453967.2",
"protein_id": "XP_024309735.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 511,
"cds_start": 1386,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453967.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRA2",
"gene_hgnc_id": 4076,
"hgvs_c": "n.*499C>G",
"hgvs_p": null,
"transcript": "ENST00000510233.5",
"protein_id": "ENSP00000422642.1",
"transcript_support_level": 3,
"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": "ENST00000510233.5"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRA2",
"gene_hgnc_id": 4076,
"hgvs_c": "n.*640C>G",
"hgvs_p": null,
"transcript": "ENST00000513005.5",
"protein_id": "ENSP00000421639.1",
"transcript_support_level": 3,
"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": "ENST00000513005.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRA2",
"gene_hgnc_id": 4076,
"hgvs_c": "n.*1117C>G",
"hgvs_p": null,
"transcript": "ENST00000630416.2",
"protein_id": "ENSP00000486333.1",
"transcript_support_level": 2,
"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": "ENST00000630416.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRA2",
"gene_hgnc_id": 4076,
"hgvs_c": "n.*499C>G",
"hgvs_p": null,
"transcript": "ENST00000510233.5",
"protein_id": "ENSP00000422642.1",
"transcript_support_level": 3,
"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": "ENST00000510233.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRA2",
"gene_hgnc_id": 4076,
"hgvs_c": "n.*640C>G",
"hgvs_p": null,
"transcript": "ENST00000513005.5",
"protein_id": "ENSP00000421639.1",
"transcript_support_level": 3,
"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": "ENST00000513005.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRA2",
"gene_hgnc_id": 4076,
"hgvs_c": "n.*1117C>G",
"hgvs_p": null,
"transcript": "ENST00000630416.2",
"protein_id": "ENSP00000486333.1",
"transcript_support_level": 2,
"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": "ENST00000630416.2"
}
],
"gene_symbol": "GABRA2",
"gene_hgnc_id": 4076,
"dbsnp": "rs749211070",
"frequency_reference_population": 0.0000034237007,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.0000034237,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0707719624042511,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.164,
"revel_prediction": "Benign",
"alphamissense_score": 0.0998,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.34,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.41,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001330690.2",
"gene_symbol": "GABRA2",
"hgnc_id": 4076,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1386C>G",
"hgvs_p": "p.Asn462Lys"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}