← 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: 10-5730498-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=5730498&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 5730498,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001387328.1",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASOR2",
"gene_hgnc_id": 23484,
"hgvs_c": "c.499T>A",
"hgvs_p": "p.Leu167Met",
"transcript": "NM_001321783.2",
"protein_id": "NP_001308712.2",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 2430,
"cds_start": 499,
"cds_end": null,
"cds_length": 7293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000695737.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321783.2"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASOR2",
"gene_hgnc_id": 23484,
"hgvs_c": "c.499T>A",
"hgvs_p": "p.Leu167Met",
"transcript": "ENST00000695737.1",
"protein_id": "ENSP00000512130.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 2430,
"cds_start": 499,
"cds_end": null,
"cds_length": 7293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001321783.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695737.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASOR2",
"gene_hgnc_id": 23484,
"hgvs_c": "c.499T>A",
"hgvs_p": "p.Leu167Met",
"transcript": "ENST00000328090.9",
"protein_id": "ENSP00000328426.5",
"transcript_support_level": 1,
"aa_start": 167,
"aa_end": null,
"aa_length": 2430,
"cds_start": 499,
"cds_end": null,
"cds_length": 7293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000328090.9"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASOR2",
"gene_hgnc_id": 23484,
"hgvs_c": "c.1282T>A",
"hgvs_p": "p.Leu428Met",
"transcript": "ENST00000699051.1",
"protein_id": "ENSP00000514102.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 2691,
"cds_start": 1282,
"cds_end": null,
"cds_length": 8076,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699051.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASOR2",
"gene_hgnc_id": 23484,
"hgvs_c": "c.1204T>A",
"hgvs_p": "p.Leu402Met",
"transcript": "ENST00000699050.1",
"protein_id": "ENSP00000514101.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 2665,
"cds_start": 1204,
"cds_end": null,
"cds_length": 7998,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699050.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASOR2",
"gene_hgnc_id": 23484,
"hgvs_c": "c.1144T>A",
"hgvs_p": "p.Leu382Met",
"transcript": "NM_001387328.1",
"protein_id": "NP_001374257.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 2645,
"cds_start": 1144,
"cds_end": null,
"cds_length": 7938,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387328.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASOR2",
"gene_hgnc_id": 23484,
"hgvs_c": "c.1144T>A",
"hgvs_p": "p.Leu382Met",
"transcript": "ENST00000645567.1",
"protein_id": "ENSP00000496466.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 2645,
"cds_start": 1144,
"cds_end": null,
"cds_length": 7938,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645567.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASOR2",
"gene_hgnc_id": 23484,
"hgvs_c": "c.751T>A",
"hgvs_p": "p.Leu251Met",
"transcript": "ENST00000695832.1",
"protein_id": "ENSP00000512205.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 2514,
"cds_start": 751,
"cds_end": null,
"cds_length": 7545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695832.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASOR2",
"gene_hgnc_id": 23484,
"hgvs_c": "c.499T>A",
"hgvs_p": "p.Leu167Met",
"transcript": "NM_001321784.2",
"protein_id": "NP_001308713.2",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 2430,
"cds_start": 499,
"cds_end": null,
"cds_length": 7293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321784.2"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASOR2",
"gene_hgnc_id": 23484,
"hgvs_c": "c.499T>A",
"hgvs_p": "p.Leu167Met",
"transcript": "NM_017782.5",
"protein_id": "NP_060252.5",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 2430,
"cds_start": 499,
"cds_end": null,
"cds_length": 7293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017782.5"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASOR2",
"gene_hgnc_id": 23484,
"hgvs_c": "c.499T>A",
"hgvs_p": "p.Leu167Met",
"transcript": "ENST00000695834.1",
"protein_id": "ENSP00000512207.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 2430,
"cds_start": 499,
"cds_end": null,
"cds_length": 7293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695834.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASOR2",
"gene_hgnc_id": 23484,
"hgvs_c": "c.499T>A",
"hgvs_p": "p.Leu167Met",
"transcript": "ENST00000873841.1",
"protein_id": "ENSP00000543900.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 2430,
"cds_start": 499,
"cds_end": null,
"cds_length": 7293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873841.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASOR2",
"gene_hgnc_id": 23484,
"hgvs_c": "c.499T>A",
"hgvs_p": "p.Leu167Met",
"transcript": "ENST00000914613.1",
"protein_id": "ENSP00000584672.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 2430,
"cds_start": 499,
"cds_end": null,
"cds_length": 7293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914613.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASOR2",
"gene_hgnc_id": 23484,
"hgvs_c": "c.499T>A",
"hgvs_p": "p.Leu167Met",
"transcript": "ENST00000914614.1",
"protein_id": "ENSP00000584673.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 2430,
"cds_start": 499,
"cds_end": null,
"cds_length": 7293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914614.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASOR2",
"gene_hgnc_id": 23484,
"hgvs_c": "c.499T>A",
"hgvs_p": "p.Leu167Met",
"transcript": "ENST00000914615.1",
"protein_id": "ENSP00000584674.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 2430,
"cds_start": 499,
"cds_end": null,
"cds_length": 7293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914615.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASOR2",
"gene_hgnc_id": 23484,
"hgvs_c": "c.499T>A",
"hgvs_p": "p.Leu167Met",
"transcript": "ENST00000914616.1",
"protein_id": "ENSP00000584675.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 2430,
"cds_start": 499,
"cds_end": null,
"cds_length": 7293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914616.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASOR2",
"gene_hgnc_id": 23484,
"hgvs_c": "c.499T>A",
"hgvs_p": "p.Leu167Met",
"transcript": "ENST00000914617.1",
"protein_id": "ENSP00000584676.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 2430,
"cds_start": 499,
"cds_end": null,
"cds_length": 7293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914617.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASOR2",
"gene_hgnc_id": 23484,
"hgvs_c": "c.499T>A",
"hgvs_p": "p.Leu167Met",
"transcript": "ENST00000914618.1",
"protein_id": "ENSP00000584677.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 2430,
"cds_start": 499,
"cds_end": null,
"cds_length": 7293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914618.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASOR2",
"gene_hgnc_id": 23484,
"hgvs_c": "c.499T>A",
"hgvs_p": "p.Leu167Met",
"transcript": "ENST00000914619.1",
"protein_id": "ENSP00000584678.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 2430,
"cds_start": 499,
"cds_end": null,
"cds_length": 7293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914619.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASOR2",
"gene_hgnc_id": 23484,
"hgvs_c": "c.499T>A",
"hgvs_p": "p.Leu167Met",
"transcript": "ENST00000914620.1",
"protein_id": "ENSP00000584679.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 2430,
"cds_start": 499,
"cds_end": null,
"cds_length": 7293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914620.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASOR2",
"gene_hgnc_id": 23484,
"hgvs_c": "c.499T>A",
"hgvs_p": "p.Leu167Met",
"transcript": "NM_001321785.2",
"protein_id": "NP_001308714.2",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 2349,
"cds_start": 499,
"cds_end": null,
"cds_length": 7050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321785.2"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASOR2",
"gene_hgnc_id": 23484,
"hgvs_c": "c.499T>A",
"hgvs_p": "p.Leu167Met",
"transcript": "ENST00000695833.1",
"protein_id": "ENSP00000512206.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 2349,
"cds_start": 499,
"cds_end": null,
"cds_length": 7050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695833.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASOR2",
"gene_hgnc_id": 23484,
"hgvs_c": "c.1066T>A",
"hgvs_p": "p.Leu356Met",
"transcript": "ENST00000695835.1",
"protein_id": "ENSP00000512208.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 1255,
"cds_start": 1066,
"cds_end": null,
"cds_length": 3768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695835.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "TASOR2",
"gene_hgnc_id": 23484,
"hgvs_c": "n.207T>A",
"hgvs_p": null,
"transcript": "ENST00000532080.1",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000532080.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASOR2",
"gene_hgnc_id": 23484,
"hgvs_c": "n.*1060T>A",
"hgvs_p": null,
"transcript": "ENST00000695836.1",
"protein_id": "ENSP00000512209.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000695836.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASOR2",
"gene_hgnc_id": 23484,
"hgvs_c": "n.*1060T>A",
"hgvs_p": null,
"transcript": "ENST00000695836.1",
"protein_id": "ENSP00000512209.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000695836.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000226647",
"gene_hgnc_id": null,
"hgvs_c": "n.221+13349A>T",
"hgvs_p": null,
"transcript": "ENST00000411512.2",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000411512.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASOR2",
"gene_hgnc_id": 23484,
"hgvs_c": "n.-164T>A",
"hgvs_p": null,
"transcript": "ENST00000380270.3",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000380270.3"
}
],
"gene_symbol": "TASOR2",
"gene_hgnc_id": 23484,
"dbsnp": "rs199828167",
"frequency_reference_population": 0.0000075216058,
"hom_count_reference_population": 0,
"allele_count_reference_population": 12,
"gnomad_exomes_af": 0.00000277179,
"gnomad_genomes_af": 0.0000525307,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": 8,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.04062739014625549,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.071,
"revel_prediction": "Benign",
"alphamissense_score": 0.0965,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.63,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.414,
"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": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001387328.1",
"gene_symbol": "TASOR2",
"hgnc_id": 23484,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1144T>A",
"hgvs_p": "p.Leu382Met"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000411512.2",
"gene_symbol": "ENSG00000226647",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.221+13349A>T",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}