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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: 10-110894445-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=110894445&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 110894445,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_014456.5",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD4",
"gene_hgnc_id": 8763,
"hgvs_c": "c.1132A>G",
"hgvs_p": "p.Ser378Gly",
"transcript": "NM_014456.5",
"protein_id": "NP_055271.2",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 469,
"cds_start": 1132,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000280154.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014456.5"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD4",
"gene_hgnc_id": 8763,
"hgvs_c": "c.1132A>G",
"hgvs_p": "p.Ser378Gly",
"transcript": "ENST00000280154.12",
"protein_id": "ENSP00000280154.7",
"transcript_support_level": 1,
"aa_start": 378,
"aa_end": null,
"aa_length": 469,
"cds_start": 1132,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014456.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000280154.12"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD4",
"gene_hgnc_id": 8763,
"hgvs_c": "c.1099A>G",
"hgvs_p": "p.Ser367Gly",
"transcript": "ENST00000393104.6",
"protein_id": "ENSP00000376816.2",
"transcript_support_level": 1,
"aa_start": 367,
"aa_end": null,
"aa_length": 458,
"cds_start": 1099,
"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": "ENST00000393104.6"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD4",
"gene_hgnc_id": 8763,
"hgvs_c": "c.1132A>G",
"hgvs_p": "p.Ser378Gly",
"transcript": "ENST00000888009.1",
"protein_id": "ENSP00000558068.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 484,
"cds_start": 1132,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888009.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD4",
"gene_hgnc_id": 8763,
"hgvs_c": "c.1156A>G",
"hgvs_p": "p.Ser386Gly",
"transcript": "ENST00000963371.1",
"protein_id": "ENSP00000633430.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 477,
"cds_start": 1156,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963371.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD4",
"gene_hgnc_id": 8763,
"hgvs_c": "c.1132A>G",
"hgvs_p": "p.Ser378Gly",
"transcript": "ENST00000888008.1",
"protein_id": "ENSP00000558067.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 469,
"cds_start": 1132,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888008.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD4",
"gene_hgnc_id": 8763,
"hgvs_c": "c.1132A>G",
"hgvs_p": "p.Ser378Gly",
"transcript": "ENST00000888011.1",
"protein_id": "ENSP00000558070.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 469,
"cds_start": 1132,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888011.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD4",
"gene_hgnc_id": 8763,
"hgvs_c": "c.1132A>G",
"hgvs_p": "p.Ser378Gly",
"transcript": "ENST00000888012.1",
"protein_id": "ENSP00000558071.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 469,
"cds_start": 1132,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888012.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD4",
"gene_hgnc_id": 8763,
"hgvs_c": "c.1132A>G",
"hgvs_p": "p.Ser378Gly",
"transcript": "ENST00000888013.1",
"protein_id": "ENSP00000558072.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 469,
"cds_start": 1132,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888013.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD4",
"gene_hgnc_id": 8763,
"hgvs_c": "c.1132A>G",
"hgvs_p": "p.Ser378Gly",
"transcript": "ENST00000888015.1",
"protein_id": "ENSP00000558074.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 469,
"cds_start": 1132,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888015.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD4",
"gene_hgnc_id": 8763,
"hgvs_c": "c.1132A>G",
"hgvs_p": "p.Ser378Gly",
"transcript": "ENST00000888016.1",
"protein_id": "ENSP00000558075.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 469,
"cds_start": 1132,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888016.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD4",
"gene_hgnc_id": 8763,
"hgvs_c": "c.1132A>G",
"hgvs_p": "p.Ser378Gly",
"transcript": "ENST00000963374.1",
"protein_id": "ENSP00000633433.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 469,
"cds_start": 1132,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963374.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD4",
"gene_hgnc_id": 8763,
"hgvs_c": "c.1129A>G",
"hgvs_p": "p.Ser377Gly",
"transcript": "ENST00000888007.1",
"protein_id": "ENSP00000558066.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 468,
"cds_start": 1129,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888007.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD4",
"gene_hgnc_id": 8763,
"hgvs_c": "c.1123A>G",
"hgvs_p": "p.Ser375Gly",
"transcript": "ENST00000888010.1",
"protein_id": "ENSP00000558069.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 466,
"cds_start": 1123,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888010.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD4",
"gene_hgnc_id": 8763,
"hgvs_c": "c.1099A>G",
"hgvs_p": "p.Ser367Gly",
"transcript": "NM_145341.4",
"protein_id": "NP_663314.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 458,
"cds_start": 1099,
"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_145341.4"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD4",
"gene_hgnc_id": 8763,
"hgvs_c": "c.1090A>G",
"hgvs_p": "p.Ser364Gly",
"transcript": "NM_001199492.2",
"protein_id": "NP_001186421.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 455,
"cds_start": 1090,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199492.2"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD4",
"gene_hgnc_id": 8763,
"hgvs_c": "c.1090A>G",
"hgvs_p": "p.Ser364Gly",
"transcript": "ENST00000888014.1",
"protein_id": "ENSP00000558073.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 455,
"cds_start": 1090,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888014.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD4",
"gene_hgnc_id": 8763,
"hgvs_c": "c.1090A>G",
"hgvs_p": "p.Ser364Gly",
"transcript": "ENST00000919434.1",
"protein_id": "ENSP00000589493.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 455,
"cds_start": 1090,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919434.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD4",
"gene_hgnc_id": 8763,
"hgvs_c": "c.1090A>G",
"hgvs_p": "p.Ser364Gly",
"transcript": "ENST00000919435.1",
"protein_id": "ENSP00000589494.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 455,
"cds_start": 1090,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919435.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD4",
"gene_hgnc_id": 8763,
"hgvs_c": "c.1090A>G",
"hgvs_p": "p.Ser364Gly",
"transcript": "ENST00000963377.1",
"protein_id": "ENSP00000633436.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 455,
"cds_start": 1090,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963377.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD4",
"gene_hgnc_id": 8763,
"hgvs_c": "c.1081A>G",
"hgvs_p": "p.Ser361Gly",
"transcript": "ENST00000963375.1",
"protein_id": "ENSP00000633434.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 452,
"cds_start": 1081,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963375.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD4",
"gene_hgnc_id": 8763,
"hgvs_c": "c.1018A>G",
"hgvs_p": "p.Ser340Gly",
"transcript": "ENST00000963372.1",
"protein_id": "ENSP00000633431.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 431,
"cds_start": 1018,
"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": "ENST00000963372.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
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"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD4",
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"hgvs_c": "c.919A>G",
"hgvs_p": "p.Ser307Gly",
"transcript": "ENST00000888006.1",
"protein_id": "ENSP00000558065.1",
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"aa_start": 307,
"aa_end": null,
"aa_length": 398,
"cds_start": 919,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888006.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD4",
"gene_hgnc_id": 8763,
"hgvs_c": "c.910A>G",
"hgvs_p": "p.Ser304Gly",
"transcript": "ENST00000963376.1",
"protein_id": "ENSP00000633435.1",
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"aa_start": 304,
"aa_end": null,
"aa_length": 395,
"cds_start": 910,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963376.1"
},
{
"aa_ref": "S",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
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"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "PDCD4",
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"hgvs_c": "c.796A>G",
"hgvs_p": "p.Ser266Gly",
"transcript": "ENST00000963373.1",
"protein_id": "ENSP00000633432.1",
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"aa_start": 266,
"aa_end": null,
"aa_length": 357,
"cds_start": 796,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963373.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
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"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD4",
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"hgvs_c": "n.477A>G",
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"transcript": "ENST00000462577.5",
"protein_id": null,
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"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": "ENST00000462577.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
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"exon_count": 4,
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"intron_rank_end": null,
"gene_symbol": "PDCD4",
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"hgvs_c": "n.67A>G",
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"transcript": "ENST00000498367.1",
"protein_id": null,
"transcript_support_level": 3,
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"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": "ENST00000498367.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PDCD4",
"gene_hgnc_id": 8763,
"hgvs_c": "n.435+247A>G",
"hgvs_p": null,
"transcript": "ENST00000483595.1",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000483595.1"
}
],
"gene_symbol": "PDCD4",
"gene_hgnc_id": 8763,
"dbsnp": "rs766888430",
"frequency_reference_population": 0.0000014079391,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000140794,
"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": 0.13908898830413818,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.061,
"revel_prediction": "Benign",
"alphamissense_score": 0.0618,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.6,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.579,
"phylop100way_prediction": "Uncertain_significance",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_014456.5",
"gene_symbol": "PDCD4",
"hgnc_id": 8763,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1132A>G",
"hgvs_p": "p.Ser378Gly"
}
],
"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
}