← 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: 5-82178550-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=82178550&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 82178550,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_031482.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG10",
"gene_hgnc_id": 20315,
"hgvs_c": "c.416G>T",
"hgvs_p": "p.Arg139Leu",
"transcript": "NM_031482.5",
"protein_id": "NP_113670.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 220,
"cds_start": 416,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000282185.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_031482.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG10",
"gene_hgnc_id": 20315,
"hgvs_c": "c.416G>T",
"hgvs_p": "p.Arg139Leu",
"transcript": "ENST00000282185.8",
"protein_id": "ENSP00000282185.3",
"transcript_support_level": 1,
"aa_start": 139,
"aa_end": null,
"aa_length": 220,
"cds_start": 416,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_031482.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000282185.8"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG10",
"gene_hgnc_id": 20315,
"hgvs_c": "c.416G>T",
"hgvs_p": "p.Arg139Leu",
"transcript": "ENST00000458350.7",
"protein_id": "ENSP00000404938.3",
"transcript_support_level": 1,
"aa_start": 139,
"aa_end": null,
"aa_length": 220,
"cds_start": 416,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000458350.7"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG10",
"gene_hgnc_id": 20315,
"hgvs_c": "c.416G>T",
"hgvs_p": "p.Arg139Leu",
"transcript": "NM_001131028.2",
"protein_id": "NP_001124500.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 220,
"cds_start": 416,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001131028.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG10",
"gene_hgnc_id": 20315,
"hgvs_c": "c.416G>T",
"hgvs_p": "p.Arg139Leu",
"transcript": "ENST00000866604.1",
"protein_id": "ENSP00000536663.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 220,
"cds_start": 416,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866604.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG10",
"gene_hgnc_id": 20315,
"hgvs_c": "c.416G>T",
"hgvs_p": "p.Arg139Leu",
"transcript": "ENST00000866605.1",
"protein_id": "ENSP00000536664.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 220,
"cds_start": 416,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866605.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG10",
"gene_hgnc_id": 20315,
"hgvs_c": "c.416G>T",
"hgvs_p": "p.Arg139Leu",
"transcript": "ENST00000866609.1",
"protein_id": "ENSP00000536668.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 220,
"cds_start": 416,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866609.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG10",
"gene_hgnc_id": 20315,
"hgvs_c": "c.416G>T",
"hgvs_p": "p.Arg139Leu",
"transcript": "ENST00000866610.1",
"protein_id": "ENSP00000536669.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 220,
"cds_start": 416,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866610.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG10",
"gene_hgnc_id": 20315,
"hgvs_c": "c.416G>T",
"hgvs_p": "p.Arg139Leu",
"transcript": "ENST00000866611.1",
"protein_id": "ENSP00000536670.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 220,
"cds_start": 416,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866611.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG10",
"gene_hgnc_id": 20315,
"hgvs_c": "c.416G>T",
"hgvs_p": "p.Arg139Leu",
"transcript": "ENST00000866613.1",
"protein_id": "ENSP00000536672.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 220,
"cds_start": 416,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866613.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG10",
"gene_hgnc_id": 20315,
"hgvs_c": "c.416G>T",
"hgvs_p": "p.Arg139Leu",
"transcript": "ENST00000919272.1",
"protein_id": "ENSP00000589331.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 220,
"cds_start": 416,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919272.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG10",
"gene_hgnc_id": 20315,
"hgvs_c": "c.416G>T",
"hgvs_p": "p.Arg139Leu",
"transcript": "ENST00000919274.1",
"protein_id": "ENSP00000589333.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 220,
"cds_start": 416,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919274.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG10",
"gene_hgnc_id": 20315,
"hgvs_c": "c.416G>T",
"hgvs_p": "p.Arg139Leu",
"transcript": "ENST00000919276.1",
"protein_id": "ENSP00000589335.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 220,
"cds_start": 416,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919276.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG10",
"gene_hgnc_id": 20315,
"hgvs_c": "c.416G>T",
"hgvs_p": "p.Arg139Leu",
"transcript": "ENST00000919277.1",
"protein_id": "ENSP00000589336.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 220,
"cds_start": 416,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919277.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG10",
"gene_hgnc_id": 20315,
"hgvs_c": "c.416G>T",
"hgvs_p": "p.Arg139Leu",
"transcript": "ENST00000969578.1",
"protein_id": "ENSP00000639637.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 220,
"cds_start": 416,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969578.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG10",
"gene_hgnc_id": 20315,
"hgvs_c": "c.416G>T",
"hgvs_p": "p.Arg139Leu",
"transcript": "ENST00000969579.1",
"protein_id": "ENSP00000639638.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 220,
"cds_start": 416,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969579.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG10",
"gene_hgnc_id": 20315,
"hgvs_c": "c.362G>T",
"hgvs_p": "p.Arg121Leu",
"transcript": "ENST00000969580.1",
"protein_id": "ENSP00000639639.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 202,
"cds_start": 362,
"cds_end": null,
"cds_length": 609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969580.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG10",
"gene_hgnc_id": 20315,
"hgvs_c": "c.416G>T",
"hgvs_p": "p.Arg139Leu",
"transcript": "ENST00000513634.1",
"protein_id": "ENSP00000425225.1",
"transcript_support_level": 2,
"aa_start": 139,
"aa_end": null,
"aa_length": 184,
"cds_start": 416,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000513634.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG10",
"gene_hgnc_id": 20315,
"hgvs_c": "c.308G>T",
"hgvs_p": "p.Arg103Leu",
"transcript": "ENST00000866607.1",
"protein_id": "ENSP00000536666.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 184,
"cds_start": 308,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866607.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG10",
"gene_hgnc_id": 20315,
"hgvs_c": "c.308G>T",
"hgvs_p": "p.Arg103Leu",
"transcript": "ENST00000866608.1",
"protein_id": "ENSP00000536667.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 184,
"cds_start": 308,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866608.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG10",
"gene_hgnc_id": 20315,
"hgvs_c": "c.308G>T",
"hgvs_p": "p.Arg103Leu",
"transcript": "ENST00000866612.1",
"protein_id": "ENSP00000536671.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 184,
"cds_start": 308,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866612.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG10",
"gene_hgnc_id": 20315,
"hgvs_c": "c.308G>T",
"hgvs_p": "p.Arg103Leu",
"transcript": "ENST00000919273.1",
"protein_id": "ENSP00000589332.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 184,
"cds_start": 308,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919273.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG10",
"gene_hgnc_id": 20315,
"hgvs_c": "c.308G>T",
"hgvs_p": "p.Arg103Leu",
"transcript": "ENST00000919275.1",
"protein_id": "ENSP00000589334.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 184,
"cds_start": 308,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919275.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG10",
"gene_hgnc_id": 20315,
"hgvs_c": "c.308G>T",
"hgvs_p": "p.Arg103Leu",
"transcript": "ENST00000919278.1",
"protein_id": "ENSP00000589337.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 184,
"cds_start": 308,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919278.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG10",
"gene_hgnc_id": 20315,
"hgvs_c": "c.416G>T",
"hgvs_p": "p.Arg139Leu",
"transcript": "XM_005248610.6",
"protein_id": "XP_005248667.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 220,
"cds_start": 416,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005248610.6"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG10",
"gene_hgnc_id": 20315,
"hgvs_c": "c.416G>T",
"hgvs_p": "p.Arg139Leu",
"transcript": "XM_005248611.6",
"protein_id": "XP_005248668.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 220,
"cds_start": 416,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005248611.6"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG10",
"gene_hgnc_id": 20315,
"hgvs_c": "c.416G>T",
"hgvs_p": "p.Arg139Leu",
"transcript": "XM_047417798.1",
"protein_id": "XP_047273754.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 220,
"cds_start": 416,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417798.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG10",
"gene_hgnc_id": 20315,
"hgvs_c": "c.416G>T",
"hgvs_p": "p.Arg139Leu",
"transcript": "XM_047417799.1",
"protein_id": "XP_047273755.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 220,
"cds_start": 416,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417799.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG10",
"gene_hgnc_id": 20315,
"hgvs_c": "c.416G>T",
"hgvs_p": "p.Arg139Leu",
"transcript": "XM_047417800.1",
"protein_id": "XP_047273756.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 220,
"cds_start": 416,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417800.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG10",
"gene_hgnc_id": 20315,
"hgvs_c": "c.308G>T",
"hgvs_p": "p.Arg103Leu",
"transcript": "XM_005248612.4",
"protein_id": "XP_005248669.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 184,
"cds_start": 308,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005248612.4"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG10",
"gene_hgnc_id": 20315,
"hgvs_c": "c.308G>T",
"hgvs_p": "p.Arg103Leu",
"transcript": "XM_017009944.2",
"protein_id": "XP_016865433.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 184,
"cds_start": 308,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009944.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG10",
"gene_hgnc_id": 20315,
"hgvs_c": "c.308G>T",
"hgvs_p": "p.Arg103Leu",
"transcript": "XM_047417801.1",
"protein_id": "XP_047273757.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 184,
"cds_start": 308,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417801.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG10",
"gene_hgnc_id": 20315,
"hgvs_c": "c.308G>T",
"hgvs_p": "p.Arg103Leu",
"transcript": "XM_047417802.1",
"protein_id": "XP_047273758.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 184,
"cds_start": 308,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417802.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG10",
"gene_hgnc_id": 20315,
"hgvs_c": "c.308G>T",
"hgvs_p": "p.Arg103Leu",
"transcript": "XM_047417803.1",
"protein_id": "XP_047273759.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 184,
"cds_start": 308,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417803.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG10",
"gene_hgnc_id": 20315,
"hgvs_c": "c.290G>T",
"hgvs_p": "p.Arg97Leu",
"transcript": "XM_011543660.3",
"protein_id": "XP_011541962.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 178,
"cds_start": 290,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543660.3"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG10",
"gene_hgnc_id": 20315,
"hgvs_c": "c.206G>T",
"hgvs_p": "p.Arg69Leu",
"transcript": "XM_011543661.3",
"protein_id": "XP_011541963.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 150,
"cds_start": 206,
"cds_end": null,
"cds_length": 453,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543661.3"
},
{
"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": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ATG10",
"gene_hgnc_id": 20315,
"hgvs_c": "c.217-74012G>T",
"hgvs_p": null,
"transcript": "ENST00000866606.1",
"protein_id": "ENSP00000536665.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 141,
"cds_start": null,
"cds_end": null,
"cds_length": 426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866606.1"
},
{
"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": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ATG10",
"gene_hgnc_id": 20315,
"hgvs_c": "c.217-74012G>T",
"hgvs_p": null,
"transcript": "ENST00000866614.1",
"protein_id": "ENSP00000536673.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 141,
"cds_start": null,
"cds_end": null,
"cds_length": 426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866614.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG10",
"gene_hgnc_id": 20315,
"hgvs_c": "n.416G>T",
"hgvs_p": null,
"transcript": "ENST00000504770.5",
"protein_id": "ENSP00000424236.1",
"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": "ENST00000504770.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG10",
"gene_hgnc_id": 20315,
"hgvs_c": "n.125G>T",
"hgvs_p": null,
"transcript": "ENST00000508814.5",
"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": "ENST00000508814.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG10",
"gene_hgnc_id": 20315,
"hgvs_c": "n.154G>T",
"hgvs_p": null,
"transcript": "ENST00000514253.2",
"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": "ENST00000514253.2"
}
],
"gene_symbol": "ATG10",
"gene_hgnc_id": 20315,
"dbsnp": "rs139687676",
"frequency_reference_population": 0.0000013699081,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136991,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5584197044372559,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.159,
"revel_prediction": "Benign",
"alphamissense_score": 0.2019,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.29,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.239,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.06,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_031482.5",
"gene_symbol": "ATG10",
"hgnc_id": 20315,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.416G>T",
"hgvs_p": "p.Arg139Leu"
}
],
"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
}