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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: 2-55617279-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=55617279&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 55617279,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001122964.3",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP4R3B",
"gene_hgnc_id": 29267,
"hgvs_c": "c.7G>C",
"hgvs_p": "p.Asp3His",
"transcript": "NM_001122964.3",
"protein_id": "NP_001116436.3",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 849,
"cds_start": 7,
"cds_end": null,
"cds_length": 2550,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000616407.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001122964.3"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP4R3B",
"gene_hgnc_id": 29267,
"hgvs_c": "c.7G>C",
"hgvs_p": "p.Asp3His",
"transcript": "ENST00000616407.2",
"protein_id": "ENSP00000483228.1",
"transcript_support_level": 1,
"aa_start": 3,
"aa_end": null,
"aa_length": 849,
"cds_start": 7,
"cds_end": null,
"cds_length": 2550,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001122964.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000616407.2"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP4R3B",
"gene_hgnc_id": 29267,
"hgvs_c": "c.7G>C",
"hgvs_p": "p.Asp3His",
"transcript": "ENST00000616288.4",
"protein_id": "ENSP00000484116.1",
"transcript_support_level": 1,
"aa_start": 3,
"aa_end": null,
"aa_length": 817,
"cds_start": 7,
"cds_end": null,
"cds_length": 2454,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000616288.4"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP4R3B",
"gene_hgnc_id": 29267,
"hgvs_c": "c.7G>C",
"hgvs_p": "p.Asp3His",
"transcript": "ENST00000611717.4",
"protein_id": "ENSP00000478677.1",
"transcript_support_level": 1,
"aa_start": 3,
"aa_end": null,
"aa_length": 764,
"cds_start": 7,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000611717.4"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP4R3B",
"gene_hgnc_id": 29267,
"hgvs_c": "c.7G>C",
"hgvs_p": "p.Asp3His",
"transcript": "ENST00000890080.1",
"protein_id": "ENSP00000560139.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 872,
"cds_start": 7,
"cds_end": null,
"cds_length": 2619,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890080.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP4R3B",
"gene_hgnc_id": 29267,
"hgvs_c": "c.7G>C",
"hgvs_p": "p.Asp3His",
"transcript": "ENST00000890066.1",
"protein_id": "ENSP00000560125.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 860,
"cds_start": 7,
"cds_end": null,
"cds_length": 2583,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890066.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP4R3B",
"gene_hgnc_id": 29267,
"hgvs_c": "c.7G>C",
"hgvs_p": "p.Asp3His",
"transcript": "ENST00000953469.1",
"protein_id": "ENSP00000623528.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 858,
"cds_start": 7,
"cds_end": null,
"cds_length": 2577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953469.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP4R3B",
"gene_hgnc_id": 29267,
"hgvs_c": "c.7G>C",
"hgvs_p": "p.Asp3His",
"transcript": "ENST00000953465.1",
"protein_id": "ENSP00000623524.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 853,
"cds_start": 7,
"cds_end": null,
"cds_length": 2562,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953465.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP4R3B",
"gene_hgnc_id": 29267,
"hgvs_c": "c.7G>C",
"hgvs_p": "p.Asp3His",
"transcript": "ENST00000890073.1",
"protein_id": "ENSP00000560132.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 847,
"cds_start": 7,
"cds_end": null,
"cds_length": 2544,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890073.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP4R3B",
"gene_hgnc_id": 29267,
"hgvs_c": "c.7G>C",
"hgvs_p": "p.Asp3His",
"transcript": "ENST00000890052.1",
"protein_id": "ENSP00000560111.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 842,
"cds_start": 7,
"cds_end": null,
"cds_length": 2529,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890052.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP4R3B",
"gene_hgnc_id": 29267,
"hgvs_c": "c.7G>C",
"hgvs_p": "p.Asp3His",
"transcript": "ENST00000890056.1",
"protein_id": "ENSP00000560115.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 840,
"cds_start": 7,
"cds_end": null,
"cds_length": 2523,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890056.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP4R3B",
"gene_hgnc_id": 29267,
"hgvs_c": "c.7G>C",
"hgvs_p": "p.Asp3His",
"transcript": "ENST00000890060.1",
"protein_id": "ENSP00000560119.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 840,
"cds_start": 7,
"cds_end": null,
"cds_length": 2523,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890060.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP4R3B",
"gene_hgnc_id": 29267,
"hgvs_c": "c.7G>C",
"hgvs_p": "p.Asp3His",
"transcript": "ENST00000925130.1",
"protein_id": "ENSP00000595189.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 828,
"cds_start": 7,
"cds_end": null,
"cds_length": 2487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925130.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP4R3B",
"gene_hgnc_id": 29267,
"hgvs_c": "c.7G>C",
"hgvs_p": "p.Asp3His",
"transcript": "ENST00000890082.1",
"protein_id": "ENSP00000560141.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 826,
"cds_start": 7,
"cds_end": null,
"cds_length": 2481,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890082.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP4R3B",
"gene_hgnc_id": 29267,
"hgvs_c": "c.7G>C",
"hgvs_p": "p.Asp3His",
"transcript": "ENST00000925132.1",
"protein_id": "ENSP00000595191.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 820,
"cds_start": 7,
"cds_end": null,
"cds_length": 2463,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925132.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP4R3B",
"gene_hgnc_id": 29267,
"hgvs_c": "c.7G>C",
"hgvs_p": "p.Asp3His",
"transcript": "NM_001282850.2",
"protein_id": "NP_001269779.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 817,
"cds_start": 7,
"cds_end": null,
"cds_length": 2454,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282850.2"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP4R3B",
"gene_hgnc_id": 29267,
"hgvs_c": "c.7G>C",
"hgvs_p": "p.Asp3His",
"transcript": "ENST00000890059.1",
"protein_id": "ENSP00000560118.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 815,
"cds_start": 7,
"cds_end": null,
"cds_length": 2448,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890059.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP4R3B",
"gene_hgnc_id": 29267,
"hgvs_c": "c.7G>C",
"hgvs_p": "p.Asp3His",
"transcript": "ENST00000890054.1",
"protein_id": "ENSP00000560113.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 810,
"cds_start": 7,
"cds_end": null,
"cds_length": 2433,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890054.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP4R3B",
"gene_hgnc_id": 29267,
"hgvs_c": "c.7G>C",
"hgvs_p": "p.Asp3His",
"transcript": "ENST00000890071.1",
"protein_id": "ENSP00000560130.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 808,
"cds_start": 7,
"cds_end": null,
"cds_length": 2427,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890071.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP4R3B",
"gene_hgnc_id": 29267,
"hgvs_c": "c.7G>C",
"hgvs_p": "p.Asp3His",
"transcript": "ENST00000925131.1",
"protein_id": "ENSP00000595190.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 807,
"cds_start": 7,
"cds_end": null,
"cds_length": 2424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925131.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP4R3B",
"gene_hgnc_id": 29267,
"hgvs_c": "c.7G>C",
"hgvs_p": "p.Asp3His",
"transcript": "ENST00000890076.1",
"protein_id": "ENSP00000560135.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 804,
"cds_start": 7,
"cds_end": null,
"cds_length": 2415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890076.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP4R3B",
"gene_hgnc_id": 29267,
"hgvs_c": "c.7G>C",
"hgvs_p": "p.Asp3His",
"transcript": "ENST00000890086.1",
"protein_id": "ENSP00000560145.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 800,
"cds_start": 7,
"cds_end": null,
"cds_length": 2403,
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"transcript": "XM_047445152.1",
"protein_id": "XP_047301108.1",
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"aa_start": 3,
"aa_end": null,
"aa_length": 588,
"cds_start": 7,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445152.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP4R3B",
"gene_hgnc_id": 29267,
"hgvs_c": "c.7G>C",
"hgvs_p": "p.Asp3His",
"transcript": "XM_047445153.1",
"protein_id": "XP_047301109.1",
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"aa_start": 3,
"aa_end": null,
"aa_length": 581,
"cds_start": 7,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445153.1"
},
{
"aa_ref": "D",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP4R3B",
"gene_hgnc_id": 29267,
"hgvs_c": "c.7G>C",
"hgvs_p": "p.Asp3His",
"transcript": "XM_017004535.3",
"protein_id": "XP_016860024.1",
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"aa_start": 3,
"aa_end": null,
"aa_length": 556,
"cds_start": 7,
"cds_end": null,
"cds_length": 1671,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017004535.3"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP4R3B",
"gene_hgnc_id": 29267,
"hgvs_c": "c.7G>C",
"hgvs_p": "p.Asp3His",
"transcript": "XM_017004536.3",
"protein_id": "XP_016860025.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 549,
"cds_start": 7,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017004536.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "PPP4R3B",
"gene_hgnc_id": 29267,
"hgvs_c": "n.1515G>C",
"hgvs_p": null,
"transcript": "ENST00000612688.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000612688.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPP4R3B-DT",
"gene_hgnc_id": 55209,
"hgvs_c": "n.187+217C>G",
"hgvs_p": null,
"transcript": "ENST00000608113.3",
"protein_id": null,
"transcript_support_level": 6,
"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": "ENST00000608113.3"
}
],
"gene_symbol": "PPP4R3B",
"gene_hgnc_id": 29267,
"dbsnp": null,
"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": 0.5003102421760559,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.293,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8956,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.13,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.392,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 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_001122964.3",
"gene_symbol": "PPP4R3B",
"hgnc_id": 29267,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.7G>C",
"hgvs_p": "p.Asp3His"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000608113.3",
"gene_symbol": "PPP4R3B-DT",
"hgnc_id": 55209,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.187+217C>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
}