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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: 2-241651275-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=241651275&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 241651275,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000404914.8",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4B",
"gene_hgnc_id": 20790,
"hgvs_c": "c.124A>G",
"hgvs_p": "p.Ile42Val",
"transcript": "NM_013325.5",
"protein_id": "NP_037457.3",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 393,
"cds_start": 124,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 146,
"cdna_end": null,
"cdna_length": 2797,
"mane_select": "ENST00000404914.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4B",
"gene_hgnc_id": 20790,
"hgvs_c": "c.124A>G",
"hgvs_p": "p.Ile42Val",
"transcript": "ENST00000404914.8",
"protein_id": "ENSP00000384259.3",
"transcript_support_level": 1,
"aa_start": 42,
"aa_end": null,
"aa_length": 393,
"cds_start": 124,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 146,
"cdna_end": null,
"cdna_length": 2797,
"mane_select": "NM_013325.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4B",
"gene_hgnc_id": 20790,
"hgvs_c": "n.141A>G",
"hgvs_p": null,
"transcript": "ENST00000482507.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2414,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4B",
"gene_hgnc_id": 20790,
"hgvs_c": "c.124A>G",
"hgvs_p": "p.Ile42Val",
"transcript": "NM_178326.3",
"protein_id": "NP_847896.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 380,
"cds_start": 124,
"cds_end": null,
"cds_length": 1143,
"cdna_start": 146,
"cdna_end": null,
"cdna_length": 2817,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4B",
"gene_hgnc_id": 20790,
"hgvs_c": "c.124A>G",
"hgvs_p": "p.Ile42Val",
"transcript": "ENST00000405546.7",
"protein_id": "ENSP00000383964.3",
"transcript_support_level": 2,
"aa_start": 42,
"aa_end": null,
"aa_length": 380,
"cds_start": 124,
"cds_end": null,
"cds_length": 1143,
"cdna_start": 626,
"cdna_end": null,
"cdna_length": 3294,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4B",
"gene_hgnc_id": 20790,
"hgvs_c": "c.124A>G",
"hgvs_p": "p.Ile42Val",
"transcript": "ENST00000400771.7",
"protein_id": "ENSP00000383582.3",
"transcript_support_level": 5,
"aa_start": 42,
"aa_end": null,
"aa_length": 218,
"cds_start": 124,
"cds_end": null,
"cds_length": 658,
"cdna_start": 129,
"cdna_end": null,
"cdna_length": 663,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4B",
"gene_hgnc_id": 20790,
"hgvs_c": "c.124A>G",
"hgvs_p": "p.Ile42Val",
"transcript": "ENST00000625810.2",
"protein_id": "ENSP00000487133.1",
"transcript_support_level": 4,
"aa_start": 42,
"aa_end": null,
"aa_length": 88,
"cds_start": 124,
"cds_end": null,
"cds_length": 267,
"cdna_start": 227,
"cdna_end": null,
"cdna_length": 370,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4B",
"gene_hgnc_id": 20790,
"hgvs_c": "c.124A>G",
"hgvs_p": "p.Ile42Val",
"transcript": "XM_005246992.5",
"protein_id": "XP_005247049.2",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 415,
"cds_start": 124,
"cds_end": null,
"cds_length": 1248,
"cdna_start": 146,
"cdna_end": null,
"cdna_length": 3582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4B",
"gene_hgnc_id": 20790,
"hgvs_c": "c.124A>G",
"hgvs_p": "p.Ile42Val",
"transcript": "XM_047443738.1",
"protein_id": "XP_047299694.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 382,
"cds_start": 124,
"cds_end": null,
"cds_length": 1149,
"cdna_start": 146,
"cdna_end": null,
"cdna_length": 3483,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4B",
"gene_hgnc_id": 20790,
"hgvs_c": "c.124A>G",
"hgvs_p": "p.Ile42Val",
"transcript": "XM_047443739.1",
"protein_id": "XP_047299695.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 360,
"cds_start": 124,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 146,
"cdna_end": null,
"cdna_length": 2698,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4B",
"gene_hgnc_id": 20790,
"hgvs_c": "n.115A>G",
"hgvs_p": null,
"transcript": "ENST00000344376.9",
"protein_id": "ENSP00000344960.5",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4B",
"gene_hgnc_id": 20790,
"hgvs_c": "n.124A>G",
"hgvs_p": null,
"transcript": "ENST00000400772.6",
"protein_id": "ENSP00000383583.2",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 625,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4B",
"gene_hgnc_id": 20790,
"hgvs_c": "n.124A>G",
"hgvs_p": null,
"transcript": "ENST00000415107.5",
"protein_id": "ENSP00000390597.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 356,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4B",
"gene_hgnc_id": 20790,
"hgvs_c": "n.132A>G",
"hgvs_p": null,
"transcript": "ENST00000425239.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4B",
"gene_hgnc_id": 20790,
"hgvs_c": "n.146A>G",
"hgvs_p": null,
"transcript": "ENST00000430617.6",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 623,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4B",
"gene_hgnc_id": 20790,
"hgvs_c": "n.146A>G",
"hgvs_p": null,
"transcript": "ENST00000465399.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4B",
"gene_hgnc_id": 20790,
"hgvs_c": "n.294A>G",
"hgvs_p": null,
"transcript": "ENST00000468018.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 721,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4B",
"gene_hgnc_id": 20790,
"hgvs_c": "n.146A>G",
"hgvs_p": null,
"transcript": "ENST00000475195.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 762,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4B",
"gene_hgnc_id": 20790,
"hgvs_c": "n.146A>G",
"hgvs_p": null,
"transcript": "ENST00000479554.5",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4B",
"gene_hgnc_id": 20790,
"hgvs_c": "n.177A>G",
"hgvs_p": null,
"transcript": "ENST00000483778.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1103,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4B",
"gene_hgnc_id": 20790,
"hgvs_c": "n.219A>G",
"hgvs_p": null,
"transcript": "ENST00000491867.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 435,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4B",
"gene_hgnc_id": 20790,
"hgvs_c": "n.204A>G",
"hgvs_p": null,
"transcript": "ENST00000494465.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2365,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4B",
"gene_hgnc_id": 20790,
"hgvs_c": "c.-99A>G",
"hgvs_p": null,
"transcript": "ENST00000402096.5",
"protein_id": "ENSP00000384661.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 331,
"cds_start": -4,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1685,
"mane_select": null,
"mane_plus": null,
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},
{
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"protein_coding": true,
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},
{
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},
{
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"5_prime_UTR_variant"
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},
{
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"5_prime_UTR_variant"
],
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
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"gene_symbol": "ATG4B",
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"hgvs_c": "n.121+164A>G",
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"transcript": "ENST00000493618.5",
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"cds_end": null,
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"feature": null
}
],
"gene_symbol": "ATG4B",
"gene_hgnc_id": 20790,
"dbsnp": "rs1297451770",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3469966650009155,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.128,
"revel_prediction": "Benign",
"alphamissense_score": 0.1496,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.744,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000404914.8",
"gene_symbol": "ATG4B",
"hgnc_id": 20790,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.124A>G",
"hgvs_p": "p.Ile42Val"
}
],
"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
}