← 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: 10-15103949-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=15103949&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "RPP38",
"hgnc_id": 30329,
"hgvs_c": "c.635T>G",
"hgvs_p": "p.Ile212Ser",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_006414.5",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "NMT2",
"hgnc_id": 7858,
"hgvs_c": "n.128-266A>C",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "ENST00000466201.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.0759,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.68,
"chr": "10",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.0389232337474823,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 283,
"aa_ref": "I",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1484,
"cdna_start": 1176,
"cds_end": null,
"cds_length": 852,
"cds_start": 635,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_183005.5",
"gene_hgnc_id": 30329,
"gene_symbol": "RPP38",
"hgvs_c": "c.635T>G",
"hgvs_p": "p.Ile212Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000378197.5",
"protein_coding": true,
"protein_id": "NP_892117.1",
"strand": true,
"transcript": "NM_183005.5",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 283,
"aa_ref": "I",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1484,
"cdna_start": 1176,
"cds_end": null,
"cds_length": 852,
"cds_start": 635,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000378197.5",
"gene_hgnc_id": 30329,
"gene_symbol": "RPP38",
"hgvs_c": "c.635T>G",
"hgvs_p": "p.Ile212Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_183005.5",
"protein_coding": true,
"protein_id": "ENSP00000367439.4",
"strand": true,
"transcript": "ENST00000378197.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 283,
"aa_ref": "I",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1030,
"cdna_start": 724,
"cds_end": null,
"cds_length": 852,
"cds_start": 635,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000378202.5",
"gene_hgnc_id": 30329,
"gene_symbol": "RPP38",
"hgvs_c": "c.635T>G",
"hgvs_p": "p.Ile212Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000367444.5",
"strand": true,
"transcript": "ENST00000378202.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1227,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000466201.1",
"gene_hgnc_id": 7858,
"gene_symbol": "NMT2",
"hgvs_c": "n.128-266A>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000466201.1",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 283,
"aa_ref": "I",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1127,
"cdna_start": 819,
"cds_end": null,
"cds_length": 852,
"cds_start": 635,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001097590.3",
"gene_hgnc_id": 30329,
"gene_symbol": "RPP38",
"hgvs_c": "c.635T>G",
"hgvs_p": "p.Ile212Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001091059.1",
"strand": true,
"transcript": "NM_001097590.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 283,
"aa_ref": "I",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1365,
"cdna_start": 1057,
"cds_end": null,
"cds_length": 852,
"cds_start": 635,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001265601.2",
"gene_hgnc_id": 30329,
"gene_symbol": "RPP38",
"hgvs_c": "c.635T>G",
"hgvs_p": "p.Ile212Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001252530.1",
"strand": true,
"transcript": "NM_001265601.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 283,
"aa_ref": "I",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1008,
"cdna_start": 700,
"cds_end": null,
"cds_length": 852,
"cds_start": 635,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_006414.5",
"gene_hgnc_id": 30329,
"gene_symbol": "RPP38",
"hgvs_c": "c.635T>G",
"hgvs_p": "p.Ile212Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_006405.2",
"strand": true,
"transcript": "NM_006414.5",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 283,
"aa_ref": "I",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1296,
"cdna_start": 994,
"cds_end": null,
"cds_length": 852,
"cds_start": 635,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000378203.5",
"gene_hgnc_id": 30329,
"gene_symbol": "RPP38",
"hgvs_c": "c.635T>G",
"hgvs_p": "p.Ile212Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000367445.1",
"strand": true,
"transcript": "ENST00000378203.5",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 283,
"aa_ref": "I",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1537,
"cdna_start": 1232,
"cds_end": null,
"cds_length": 852,
"cds_start": 635,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000616640.1",
"gene_hgnc_id": 30329,
"gene_symbol": "RPP38",
"hgvs_c": "c.635T>G",
"hgvs_p": "p.Ile212Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000478982.1",
"strand": true,
"transcript": "ENST00000616640.1",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 283,
"aa_ref": "I",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1231,
"cdna_start": 924,
"cds_end": null,
"cds_length": 852,
"cds_start": 635,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000890835.1",
"gene_hgnc_id": 30329,
"gene_symbol": "RPP38",
"hgvs_c": "c.635T>G",
"hgvs_p": "p.Ile212Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560894.1",
"strand": true,
"transcript": "ENST00000890835.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 283,
"aa_ref": "I",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1350,
"cdna_start": 1043,
"cds_end": null,
"cds_length": 852,
"cds_start": 635,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000890836.1",
"gene_hgnc_id": 30329,
"gene_symbol": "RPP38",
"hgvs_c": "c.635T>G",
"hgvs_p": "p.Ile212Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560895.1",
"strand": true,
"transcript": "ENST00000890836.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 283,
"aa_ref": "I",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1254,
"cdna_start": 946,
"cds_end": null,
"cds_length": 852,
"cds_start": 635,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000890837.1",
"gene_hgnc_id": 30329,
"gene_symbol": "RPP38",
"hgvs_c": "c.635T>G",
"hgvs_p": "p.Ile212Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560896.1",
"strand": true,
"transcript": "ENST00000890837.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 283,
"aa_ref": "I",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1134,
"cdna_start": 827,
"cds_end": null,
"cds_length": 852,
"cds_start": 635,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000890838.1",
"gene_hgnc_id": 30329,
"gene_symbol": "RPP38",
"hgvs_c": "c.635T>G",
"hgvs_p": "p.Ile212Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560897.1",
"strand": true,
"transcript": "ENST00000890838.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 283,
"aa_ref": "I",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1422,
"cdna_start": 1114,
"cds_end": null,
"cds_length": 852,
"cds_start": 635,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000890839.1",
"gene_hgnc_id": 30329,
"gene_symbol": "RPP38",
"hgvs_c": "c.635T>G",
"hgvs_p": "p.Ile212Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560898.1",
"strand": true,
"transcript": "ENST00000890839.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 283,
"aa_ref": "I",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1515,
"cdna_start": 1208,
"cds_end": null,
"cds_length": 852,
"cds_start": 635,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000890840.1",
"gene_hgnc_id": 30329,
"gene_symbol": "RPP38",
"hgvs_c": "c.635T>G",
"hgvs_p": "p.Ile212Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560899.1",
"strand": true,
"transcript": "ENST00000890840.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 283,
"aa_ref": "I",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1118,
"cdna_start": 815,
"cds_end": null,
"cds_length": 852,
"cds_start": 635,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000890841.1",
"gene_hgnc_id": 30329,
"gene_symbol": "RPP38",
"hgvs_c": "c.635T>G",
"hgvs_p": "p.Ile212Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560900.1",
"strand": true,
"transcript": "ENST00000890841.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 283,
"aa_ref": "I",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1496,
"cdna_start": 1193,
"cds_end": null,
"cds_length": 852,
"cds_start": 635,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000890842.1",
"gene_hgnc_id": 30329,
"gene_symbol": "RPP38",
"hgvs_c": "c.635T>G",
"hgvs_p": "p.Ile212Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560901.1",
"strand": true,
"transcript": "ENST00000890842.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 283,
"aa_ref": "I",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1454,
"cdna_start": 1146,
"cds_end": null,
"cds_length": 852,
"cds_start": 635,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000890843.1",
"gene_hgnc_id": 30329,
"gene_symbol": "RPP38",
"hgvs_c": "c.635T>G",
"hgvs_p": "p.Ile212Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560902.1",
"strand": true,
"transcript": "ENST00000890843.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 283,
"aa_ref": "I",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1113,
"cdna_start": 811,
"cds_end": null,
"cds_length": 852,
"cds_start": 635,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000924142.1",
"gene_hgnc_id": 30329,
"gene_symbol": "RPP38",
"hgvs_c": "c.635T>G",
"hgvs_p": "p.Ile212Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594201.1",
"strand": true,
"transcript": "ENST00000924142.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 283,
"aa_ref": "I",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1565,
"cdna_start": 1259,
"cds_end": null,
"cds_length": 852,
"cds_start": 635,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000924143.1",
"gene_hgnc_id": 30329,
"gene_symbol": "RPP38",
"hgvs_c": "c.635T>G",
"hgvs_p": "p.Ile212Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594202.1",
"strand": true,
"transcript": "ENST00000924143.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 283,
"aa_ref": "I",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1685,
"cdna_start": 1377,
"cds_end": null,
"cds_length": 852,
"cds_start": 635,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000924144.1",
"gene_hgnc_id": 30329,
"gene_symbol": "RPP38",
"hgvs_c": "c.635T>G",
"hgvs_p": "p.Ile212Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594203.1",
"strand": true,
"transcript": "ENST00000924144.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 283,
"aa_ref": "I",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1597,
"cdna_start": 1293,
"cds_end": null,
"cds_length": 852,
"cds_start": 635,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000924145.1",
"gene_hgnc_id": 30329,
"gene_symbol": "RPP38",
"hgvs_c": "c.635T>G",
"hgvs_p": "p.Ile212Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594204.1",
"strand": true,
"transcript": "ENST00000924145.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 283,
"aa_ref": "I",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1517,
"cdna_start": 1209,
"cds_end": null,
"cds_length": 852,
"cds_start": 635,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_006717363.3",
"gene_hgnc_id": 30329,
"gene_symbol": "RPP38",
"hgvs_c": "c.635T>G",
"hgvs_p": "p.Ile212Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006717426.1",
"strand": true,
"transcript": "XM_006717363.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 283,
"aa_ref": "I",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 997,
"cdna_start": 689,
"cds_end": null,
"cds_length": 852,
"cds_start": 635,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_006717364.5",
"gene_hgnc_id": 30329,
"gene_symbol": "RPP38",
"hgvs_c": "c.635T>G",
"hgvs_p": "p.Ile212Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006717427.1",
"strand": true,
"transcript": "XM_006717364.5",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 283,
"aa_ref": "I",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1398,
"cdna_start": 1090,
"cds_end": null,
"cds_length": 852,
"cds_start": 635,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_011519293.3",
"gene_hgnc_id": 30329,
"gene_symbol": "RPP38",
"hgvs_c": "c.635T>G",
"hgvs_p": "p.Ile212Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011517595.1",
"strand": true,
"transcript": "XM_011519293.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 283,
"aa_ref": "I",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1851,
"cdna_start": 1543,
"cds_end": null,
"cds_length": 852,
"cds_start": 635,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_017015479.3",
"gene_hgnc_id": 30329,
"gene_symbol": "RPP38",
"hgvs_c": "c.635T>G",
"hgvs_p": "p.Ile212Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016870968.1",
"strand": true,
"transcript": "XM_017015479.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 283,
"aa_ref": "I",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1116,
"cdna_start": 808,
"cds_end": null,
"cds_length": 852,
"cds_start": 635,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_017015480.3",
"gene_hgnc_id": 30329,
"gene_symbol": "RPP38",
"hgvs_c": "c.635T>G",
"hgvs_p": "p.Ile212Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016870969.1",
"strand": true,
"transcript": "XM_017015480.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 283,
"aa_ref": "I",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1732,
"cdna_start": 1424,
"cds_end": null,
"cds_length": 852,
"cds_start": 635,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_017015481.3",
"gene_hgnc_id": 30329,
"gene_symbol": "RPP38",
"hgvs_c": "c.635T>G",
"hgvs_p": "p.Ile212Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016870970.1",
"strand": true,
"transcript": "XM_017015481.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 145,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 833,
"cdna_start": null,
"cds_end": null,
"cds_length": 438,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000378201.6",
"gene_hgnc_id": 30329,
"gene_symbol": "RPP38",
"hgvs_c": "c.399+236T>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000367443.2",
"strand": true,
"transcript": "ENST00000378201.6",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 323,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000451677.1",
"gene_hgnc_id": 30329,
"gene_symbol": "RPP38",
"hgvs_c": "n.162+6551T>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000451677.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 167,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 863,
"cdna_start": null,
"cds_end": null,
"cds_length": 506,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000441850.1",
"gene_hgnc_id": 30329,
"gene_symbol": "RPP38",
"hgvs_c": "c.*129T>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000402635.1",
"strand": true,
"transcript": "ENST00000441850.1",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs10242",
"effect": "missense_variant",
"frequency_reference_population": 6.840769e-7,
"gene_hgnc_id": 30329,
"gene_symbol": "RPP38",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 6.84077e-7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.001,
"pos": 15103949,
"ref": "T",
"revel_prediction": "Benign",
"revel_score": 0.034,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_006414.5"
}
]
}