← 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: 1-62819267-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=62819267&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 62819267,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_032852.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4C",
"gene_hgnc_id": 16040,
"hgvs_c": "c.657A>C",
"hgvs_p": "p.Glu219Asp",
"transcript": "NM_032852.4",
"protein_id": "NP_116241.2",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 458,
"cds_start": 657,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000317868.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032852.4"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4C",
"gene_hgnc_id": 16040,
"hgvs_c": "c.657A>C",
"hgvs_p": "p.Glu219Asp",
"transcript": "ENST00000317868.9",
"protein_id": "ENSP00000322159.4",
"transcript_support_level": 1,
"aa_start": 219,
"aa_end": null,
"aa_length": 458,
"cds_start": 657,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032852.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000317868.9"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4C",
"gene_hgnc_id": 16040,
"hgvs_c": "c.657A>C",
"hgvs_p": "p.Glu219Asp",
"transcript": "ENST00000371120.7",
"protein_id": "ENSP00000360161.3",
"transcript_support_level": 1,
"aa_start": 219,
"aa_end": null,
"aa_length": 458,
"cds_start": 657,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371120.7"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4C",
"gene_hgnc_id": 16040,
"hgvs_c": "c.759A>C",
"hgvs_p": "p.Glu253Asp",
"transcript": "ENST00000852843.1",
"protein_id": "ENSP00000522902.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 492,
"cds_start": 759,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852843.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4C",
"gene_hgnc_id": 16040,
"hgvs_c": "c.759A>C",
"hgvs_p": "p.Glu253Asp",
"transcript": "ENST00000852844.1",
"protein_id": "ENSP00000522903.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 492,
"cds_start": 759,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852844.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4C",
"gene_hgnc_id": 16040,
"hgvs_c": "c.720A>C",
"hgvs_p": "p.Glu240Asp",
"transcript": "ENST00000929153.1",
"protein_id": "ENSP00000599212.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 479,
"cds_start": 720,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929153.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4C",
"gene_hgnc_id": 16040,
"hgvs_c": "c.657A>C",
"hgvs_p": "p.Glu219Asp",
"transcript": "ENST00000852835.1",
"protein_id": "ENSP00000522894.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 470,
"cds_start": 657,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852835.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4C",
"gene_hgnc_id": 16040,
"hgvs_c": "c.657A>C",
"hgvs_p": "p.Glu219Asp",
"transcript": "ENST00000852845.1",
"protein_id": "ENSP00000522904.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 470,
"cds_start": 657,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852845.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4C",
"gene_hgnc_id": 16040,
"hgvs_c": "c.657A>C",
"hgvs_p": "p.Glu219Asp",
"transcript": "ENST00000929151.1",
"protein_id": "ENSP00000599210.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 470,
"cds_start": 657,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929151.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4C",
"gene_hgnc_id": 16040,
"hgvs_c": "c.657A>C",
"hgvs_p": "p.Glu219Asp",
"transcript": "NM_178221.3",
"protein_id": "NP_835739.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 458,
"cds_start": 657,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_178221.3"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4C",
"gene_hgnc_id": 16040,
"hgvs_c": "c.657A>C",
"hgvs_p": "p.Glu219Asp",
"transcript": "ENST00000852834.1",
"protein_id": "ENSP00000522893.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 458,
"cds_start": 657,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852834.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4C",
"gene_hgnc_id": 16040,
"hgvs_c": "c.657A>C",
"hgvs_p": "p.Glu219Asp",
"transcript": "ENST00000852837.1",
"protein_id": "ENSP00000522896.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 458,
"cds_start": 657,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852837.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4C",
"gene_hgnc_id": 16040,
"hgvs_c": "c.657A>C",
"hgvs_p": "p.Glu219Asp",
"transcript": "ENST00000852839.1",
"protein_id": "ENSP00000522898.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 458,
"cds_start": 657,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852839.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4C",
"gene_hgnc_id": 16040,
"hgvs_c": "c.657A>C",
"hgvs_p": "p.Glu219Asp",
"transcript": "ENST00000852840.1",
"protein_id": "ENSP00000522899.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 458,
"cds_start": 657,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852840.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4C",
"gene_hgnc_id": 16040,
"hgvs_c": "c.657A>C",
"hgvs_p": "p.Glu219Asp",
"transcript": "ENST00000852842.1",
"protein_id": "ENSP00000522901.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 458,
"cds_start": 657,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852842.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4C",
"gene_hgnc_id": 16040,
"hgvs_c": "c.657A>C",
"hgvs_p": "p.Glu219Asp",
"transcript": "ENST00000929148.1",
"protein_id": "ENSP00000599207.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 458,
"cds_start": 657,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929148.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4C",
"gene_hgnc_id": 16040,
"hgvs_c": "c.657A>C",
"hgvs_p": "p.Glu219Asp",
"transcript": "ENST00000945357.1",
"protein_id": "ENSP00000615416.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 458,
"cds_start": 657,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945357.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4C",
"gene_hgnc_id": 16040,
"hgvs_c": "c.657A>C",
"hgvs_p": "p.Glu219Asp",
"transcript": "ENST00000945359.1",
"protein_id": "ENSP00000615418.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 458,
"cds_start": 657,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945359.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4C",
"gene_hgnc_id": 16040,
"hgvs_c": "c.657A>C",
"hgvs_p": "p.Glu219Asp",
"transcript": "ENST00000945360.1",
"protein_id": "ENSP00000615419.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 458,
"cds_start": 657,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945360.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4C",
"gene_hgnc_id": 16040,
"hgvs_c": "c.651A>C",
"hgvs_p": "p.Glu217Asp",
"transcript": "ENST00000929152.1",
"protein_id": "ENSP00000599211.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 456,
"cds_start": 651,
"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": "ENST00000929152.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4C",
"gene_hgnc_id": 16040,
"hgvs_c": "c.657A>C",
"hgvs_p": "p.Glu219Asp",
"transcript": "ENST00000852836.1",
"protein_id": "ENSP00000522895.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 449,
"cds_start": 657,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852836.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4C",
"gene_hgnc_id": 16040,
"hgvs_c": "c.657A>C",
"hgvs_p": "p.Glu219Asp",
"transcript": "ENST00000852848.1",
"protein_id": "ENSP00000522907.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 449,
"cds_start": 657,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852848.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4C",
"gene_hgnc_id": 16040,
"hgvs_c": "c.618A>C",
"hgvs_p": "p.Glu206Asp",
"transcript": "ENST00000945356.1",
"protein_id": "ENSP00000615415.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 445,
"cds_start": 618,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945356.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4C",
"gene_hgnc_id": 16040,
"hgvs_c": "c.657A>C",
"hgvs_p": "p.Glu219Asp",
"transcript": "ENST00000929154.1",
"protein_id": "ENSP00000599213.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 443,
"cds_start": 657,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929154.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4C",
"gene_hgnc_id": 16040,
"hgvs_c": "c.657A>C",
"hgvs_p": "p.Glu219Asp",
"transcript": "ENST00000852841.1",
"protein_id": "ENSP00000522900.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 431,
"cds_start": 657,
"cds_end": null,
"cds_length": 1296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852841.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4C",
"gene_hgnc_id": 16040,
"hgvs_c": "c.657A>C",
"hgvs_p": "p.Glu219Asp",
"transcript": "ENST00000929149.1",
"protein_id": "ENSP00000599208.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 431,
"cds_start": 657,
"cds_end": null,
"cds_length": 1296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929149.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4C",
"gene_hgnc_id": 16040,
"hgvs_c": "c.657A>C",
"hgvs_p": "p.Glu219Asp",
"transcript": "ENST00000852833.1",
"protein_id": "ENSP00000522892.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 418,
"cds_start": 657,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852833.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4C",
"gene_hgnc_id": 16040,
"hgvs_c": "c.657A>C",
"hgvs_p": "p.Glu219Asp",
"transcript": "ENST00000852838.1",
"protein_id": "ENSP00000522897.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 418,
"cds_start": 657,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852838.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4C",
"gene_hgnc_id": 16040,
"hgvs_c": "c.657A>C",
"hgvs_p": "p.Glu219Asp",
"transcript": "ENST00000945358.1",
"protein_id": "ENSP00000615417.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 418,
"cds_start": 657,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945358.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4C",
"gene_hgnc_id": 16040,
"hgvs_c": "c.423A>C",
"hgvs_p": "p.Glu141Asp",
"transcript": "ENST00000852847.1",
"protein_id": "ENSP00000522906.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 380,
"cds_start": 423,
"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": "ENST00000852847.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4C",
"gene_hgnc_id": 16040,
"hgvs_c": "c.396A>C",
"hgvs_p": "p.Glu132Asp",
"transcript": "ENST00000852846.1",
"protein_id": "ENSP00000522905.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 331,
"cds_start": 396,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852846.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ATG4C",
"gene_hgnc_id": 16040,
"hgvs_c": "c.161-9773A>C",
"hgvs_p": null,
"transcript": "ENST00000929150.1",
"protein_id": "ENSP00000599209.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 246,
"cds_start": null,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929150.1"
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000306496",
"gene_hgnc_id": 58931,
"hgvs_c": "n.415-27599T>G",
"hgvs_p": null,
"transcript": "ENST00000819120.1",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000819120.1"
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000306496",
"gene_hgnc_id": 58931,
"hgvs_c": "n.325-27599T>G",
"hgvs_p": null,
"transcript": "ENST00000819121.1",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000819121.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"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": "ATG4C",
"gene_hgnc_id": 16040,
"hgvs_c": "c.*88A>C",
"hgvs_p": null,
"transcript": "ENST00000371118.1",
"protein_id": "ENSP00000360159.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 188,
"cds_start": null,
"cds_end": null,
"cds_length": 569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371118.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"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": "ATG4C",
"gene_hgnc_id": 16040,
"hgvs_c": "c.*202A>C",
"hgvs_p": null,
"transcript": "ENST00000443289.5",
"protein_id": "ENSP00000396614.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 150,
"cds_start": null,
"cds_end": null,
"cds_length": 455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000443289.5"
}
],
"gene_symbol": "ATG4C",
"gene_hgnc_id": 16040,
"dbsnp": "rs145971105",
"frequency_reference_population": 0.00009050144,
"hom_count_reference_population": 0,
"allele_count_reference_population": 146,
"gnomad_exomes_af": 0.0000520201,
"gnomad_genomes_af": 0.00045974,
"gnomad_exomes_ac": 76,
"gnomad_genomes_ac": 70,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.02320125699043274,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.063,
"revel_prediction": "Benign",
"alphamissense_score": 0.0967,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.56,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.003,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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_032852.4",
"gene_symbol": "ATG4C",
"hgnc_id": 16040,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.657A>C",
"hgvs_p": "p.Glu219Asp"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000819120.1",
"gene_symbol": "ENSG00000306496",
"hgnc_id": 58931,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.415-27599T>G",
"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
}