← 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: 17-44194600-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=44194600&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 44194600,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001382316.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN7L3",
"gene_hgnc_id": 25416,
"hgvs_c": "c.812G>A",
"hgvs_p": "p.Arg271Gln",
"transcript": "NM_001382309.1",
"protein_id": "NP_001369238.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 347,
"cds_start": 812,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000587097.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382309.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN7L3",
"gene_hgnc_id": 25416,
"hgvs_c": "c.812G>A",
"hgvs_p": "p.Arg271Gln",
"transcript": "ENST00000587097.6",
"protein_id": "ENSP00000465614.2",
"transcript_support_level": 5,
"aa_start": 271,
"aa_end": null,
"aa_length": 347,
"cds_start": 812,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001382309.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000587097.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN7L3",
"gene_hgnc_id": 25416,
"hgvs_c": "c.833G>A",
"hgvs_p": "p.Arg278Gln",
"transcript": "ENST00000454077.6",
"protein_id": "ENSP00000397259.1",
"transcript_support_level": 1,
"aa_start": 278,
"aa_end": null,
"aa_length": 354,
"cds_start": 833,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000454077.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN7L3",
"gene_hgnc_id": 25416,
"hgvs_c": "c.812G>A",
"hgvs_p": "p.Arg271Gln",
"transcript": "ENST00000389384.8",
"protein_id": "ENSP00000374035.3",
"transcript_support_level": 1,
"aa_start": 271,
"aa_end": null,
"aa_length": 347,
"cds_start": 812,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000389384.8"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN7L3",
"gene_hgnc_id": 25416,
"hgvs_c": "c.911G>A",
"hgvs_p": "p.Arg304Gln",
"transcript": "ENST00000962114.1",
"protein_id": "ENSP00000632173.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 380,
"cds_start": 911,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962114.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN7L3",
"gene_hgnc_id": 25416,
"hgvs_c": "c.890G>A",
"hgvs_p": "p.Arg297Gln",
"transcript": "ENST00000889834.1",
"protein_id": "ENSP00000559893.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 373,
"cds_start": 890,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889834.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN7L3",
"gene_hgnc_id": 25416,
"hgvs_c": "c.890G>A",
"hgvs_p": "p.Arg297Gln",
"transcript": "ENST00000962115.1",
"protein_id": "ENSP00000632174.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 373,
"cds_start": 890,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962115.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN7L3",
"gene_hgnc_id": 25416,
"hgvs_c": "c.869G>A",
"hgvs_p": "p.Arg290Gln",
"transcript": "NM_001382316.1",
"protein_id": "NP_001369245.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 366,
"cds_start": 869,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382316.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN7L3",
"gene_hgnc_id": 25416,
"hgvs_c": "c.869G>A",
"hgvs_p": "p.Arg290Gln",
"transcript": "ENST00000889837.1",
"protein_id": "ENSP00000559896.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 366,
"cds_start": 869,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889837.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN7L3",
"gene_hgnc_id": 25416,
"hgvs_c": "c.869G>A",
"hgvs_p": "p.Arg290Gln",
"transcript": "ENST00000889839.1",
"protein_id": "ENSP00000559898.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 366,
"cds_start": 869,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889839.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN7L3",
"gene_hgnc_id": 25416,
"hgvs_c": "c.833G>A",
"hgvs_p": "p.Arg278Gln",
"transcript": "NM_001382308.1",
"protein_id": "NP_001369237.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 354,
"cds_start": 833,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382308.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN7L3",
"gene_hgnc_id": 25416,
"hgvs_c": "c.833G>A",
"hgvs_p": "p.Arg278Gln",
"transcript": "NM_001382310.1",
"protein_id": "NP_001369239.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 354,
"cds_start": 833,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382310.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN7L3",
"gene_hgnc_id": 25416,
"hgvs_c": "c.833G>A",
"hgvs_p": "p.Arg278Gln",
"transcript": "NM_001382314.1",
"protein_id": "NP_001369243.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 354,
"cds_start": 833,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382314.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN7L3",
"gene_hgnc_id": 25416,
"hgvs_c": "c.833G>A",
"hgvs_p": "p.Arg278Gln",
"transcript": "NM_001382315.1",
"protein_id": "NP_001369244.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 354,
"cds_start": 833,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382315.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN7L3",
"gene_hgnc_id": 25416,
"hgvs_c": "c.833G>A",
"hgvs_p": "p.Arg278Gln",
"transcript": "ENST00000913339.1",
"protein_id": "ENSP00000583398.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 354,
"cds_start": 833,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913339.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN7L3",
"gene_hgnc_id": 25416,
"hgvs_c": "c.833G>A",
"hgvs_p": "p.Arg278Gln",
"transcript": "ENST00000913343.1",
"protein_id": "ENSP00000583402.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 354,
"cds_start": 833,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913343.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN7L3",
"gene_hgnc_id": 25416,
"hgvs_c": "c.812G>A",
"hgvs_p": "p.Arg271Gln",
"transcript": "NM_001382311.1",
"protein_id": "NP_001369240.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 347,
"cds_start": 812,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382311.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN7L3",
"gene_hgnc_id": 25416,
"hgvs_c": "c.812G>A",
"hgvs_p": "p.Arg271Gln",
"transcript": "NM_001382312.1",
"protein_id": "NP_001369241.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 347,
"cds_start": 812,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382312.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN7L3",
"gene_hgnc_id": 25416,
"hgvs_c": "c.812G>A",
"hgvs_p": "p.Arg271Gln",
"transcript": "NM_001382313.1",
"protein_id": "NP_001369242.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 347,
"cds_start": 812,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382313.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN7L3",
"gene_hgnc_id": 25416,
"hgvs_c": "c.812G>A",
"hgvs_p": "p.Arg271Gln",
"transcript": "ENST00000889835.1",
"protein_id": "ENSP00000559894.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 347,
"cds_start": 812,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889835.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN7L3",
"gene_hgnc_id": 25416,
"hgvs_c": "c.812G>A",
"hgvs_p": "p.Arg271Gln",
"transcript": "ENST00000889836.1",
"protein_id": "ENSP00000559895.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 347,
"cds_start": 812,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889836.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN7L3",
"gene_hgnc_id": 25416,
"hgvs_c": "c.812G>A",
"hgvs_p": "p.Arg271Gln",
"transcript": "ENST00000889838.1",
"protein_id": "ENSP00000559897.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 347,
"cds_start": 812,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889838.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN7L3",
"gene_hgnc_id": 25416,
"hgvs_c": "c.812G>A",
"hgvs_p": "p.Arg271Gln",
"transcript": "ENST00000913340.1",
"protein_id": "ENSP00000583399.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 347,
"cds_start": 812,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913340.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN7L3",
"gene_hgnc_id": 25416,
"hgvs_c": "c.812G>A",
"hgvs_p": "p.Arg271Gln",
"transcript": "ENST00000913344.1",
"protein_id": "ENSP00000583403.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 347,
"cds_start": 812,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913344.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN7L3",
"gene_hgnc_id": 25416,
"hgvs_c": "c.812G>A",
"hgvs_p": "p.Arg271Gln",
"transcript": "ENST00000962113.1",
"protein_id": "ENSP00000632172.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 347,
"cds_start": 812,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962113.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN7L3",
"gene_hgnc_id": 25416,
"hgvs_c": "c.668G>A",
"hgvs_p": "p.Arg223Gln",
"transcript": "ENST00000913341.1",
"protein_id": "ENSP00000583400.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 299,
"cds_start": 668,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913341.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN7L3",
"gene_hgnc_id": 25416,
"hgvs_c": "c.668G>A",
"hgvs_p": "p.Arg223Gln",
"transcript": "ENST00000913342.1",
"protein_id": "ENSP00000583401.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 299,
"cds_start": 668,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913342.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN7L3",
"gene_hgnc_id": 25416,
"hgvs_c": "c.326G>A",
"hgvs_p": "p.Arg109Gln",
"transcript": "ENST00000591295.5",
"protein_id": "ENSP00000467092.1",
"transcript_support_level": 5,
"aa_start": 109,
"aa_end": null,
"aa_length": 185,
"cds_start": 326,
"cds_end": null,
"cds_length": 558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000591295.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN7L3",
"gene_hgnc_id": 25416,
"hgvs_c": "c.158G>A",
"hgvs_p": "p.Arg53Gln",
"transcript": "ENST00000590537.5",
"protein_id": "ENSP00000465210.1",
"transcript_support_level": 4,
"aa_start": 53,
"aa_end": null,
"aa_length": 71,
"cds_start": 158,
"cds_end": null,
"cds_length": 218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000590537.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN7L3",
"gene_hgnc_id": 25416,
"hgvs_c": "n.344G>A",
"hgvs_p": null,
"transcript": "ENST00000586688.5",
"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": "ENST00000586688.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN7L3",
"gene_hgnc_id": 25416,
"hgvs_c": "n.272G>A",
"hgvs_p": null,
"transcript": "ENST00000593073.5",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000593073.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN7L3",
"gene_hgnc_id": 25416,
"hgvs_c": "n.*51G>A",
"hgvs_p": null,
"transcript": "ENST00000589607.5",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000589607.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN7L3",
"gene_hgnc_id": 25416,
"hgvs_c": "n.*57G>A",
"hgvs_p": null,
"transcript": "ENST00000591807.1",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000591807.1"
}
],
"gene_symbol": "ATXN7L3",
"gene_hgnc_id": 25416,
"dbsnp": "rs566105744",
"frequency_reference_population": 0.000021066877,
"hom_count_reference_population": 0,
"allele_count_reference_population": 34,
"gnomad_exomes_af": 0.0000184721,
"gnomad_genomes_af": 0.0000459776,
"gnomad_exomes_ac": 27,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.18842563033103943,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.181,
"revel_prediction": "Benign",
"alphamissense_score": 0.2276,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.09,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.781,
"phylop100way_prediction": "Uncertain_significance",
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001382316.1",
"gene_symbol": "ATXN7L3",
"hgnc_id": 25416,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.869G>A",
"hgvs_p": "p.Arg290Gln"
}
],
"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
}