← 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: 2-86116578-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=86116578&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PTCD3",
"hgnc_id": 24717,
"hgvs_c": "c.289C>G",
"hgvs_p": "p.Pro97Ala",
"inheritance_mode": "AR",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_017952.6",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": 0.3412,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.16,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8970409035682678,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 689,
"aa_ref": "P",
"aa_start": 97,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6681,
"cdna_start": 302,
"cds_end": null,
"cds_length": 2070,
"cds_start": 289,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_017952.6",
"gene_hgnc_id": 24717,
"gene_symbol": "PTCD3",
"hgvs_c": "c.289C>G",
"hgvs_p": "p.Pro97Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000254630.12",
"protein_coding": true,
"protein_id": "NP_060422.4",
"strand": true,
"transcript": "NM_017952.6",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 689,
"aa_ref": "P",
"aa_start": 97,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6681,
"cdna_start": 302,
"cds_end": null,
"cds_length": 2070,
"cds_start": 289,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000254630.12",
"gene_hgnc_id": 24717,
"gene_symbol": "PTCD3",
"hgvs_c": "c.289C>G",
"hgvs_p": "p.Pro97Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_017952.6",
"protein_coding": true,
"protein_id": "ENSP00000254630.7",
"strand": true,
"transcript": "ENST00000254630.12",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 695,
"aa_ref": "P",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2734,
"cdna_start": 329,
"cds_end": null,
"cds_length": 2088,
"cds_start": 307,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000898160.1",
"gene_hgnc_id": 24717,
"gene_symbol": "PTCD3",
"hgvs_c": "c.307C>G",
"hgvs_p": "p.Pro103Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568219.1",
"strand": true,
"transcript": "ENST00000898160.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 690,
"aa_ref": "P",
"aa_start": 97,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2732,
"cdna_start": 309,
"cds_end": null,
"cds_length": 2073,
"cds_start": 289,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000898158.1",
"gene_hgnc_id": 24717,
"gene_symbol": "PTCD3",
"hgvs_c": "c.289C>G",
"hgvs_p": "p.Pro97Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568217.1",
"strand": true,
"transcript": "ENST00000898158.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 689,
"aa_ref": "P",
"aa_start": 97,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2707,
"cdna_start": 302,
"cds_end": null,
"cds_length": 2070,
"cds_start": 289,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000898161.1",
"gene_hgnc_id": 24717,
"gene_symbol": "PTCD3",
"hgvs_c": "c.289C>G",
"hgvs_p": "p.Pro97Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568220.1",
"strand": true,
"transcript": "ENST00000898161.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 688,
"aa_ref": "P",
"aa_start": 97,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3217,
"cdna_start": 309,
"cds_end": null,
"cds_length": 2067,
"cds_start": 289,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000898153.1",
"gene_hgnc_id": 24717,
"gene_symbol": "PTCD3",
"hgvs_c": "c.289C>G",
"hgvs_p": "p.Pro97Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568212.1",
"strand": true,
"transcript": "ENST00000898153.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 688,
"aa_ref": "P",
"aa_start": 97,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2310,
"cdna_start": 309,
"cds_end": null,
"cds_length": 2067,
"cds_start": 289,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000898164.1",
"gene_hgnc_id": 24717,
"gene_symbol": "PTCD3",
"hgvs_c": "c.289C>G",
"hgvs_p": "p.Pro97Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568223.1",
"strand": true,
"transcript": "ENST00000898164.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 687,
"aa_ref": "P",
"aa_start": 97,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3203,
"cdna_start": 311,
"cds_end": null,
"cds_length": 2064,
"cds_start": 289,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000898155.1",
"gene_hgnc_id": 24717,
"gene_symbol": "PTCD3",
"hgvs_c": "c.289C>G",
"hgvs_p": "p.Pro97Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568214.1",
"strand": true,
"transcript": "ENST00000898155.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 684,
"aa_ref": "P",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2293,
"cdna_start": 287,
"cds_end": null,
"cds_length": 2055,
"cds_start": 274,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000938581.1",
"gene_hgnc_id": 24717,
"gene_symbol": "PTCD3",
"hgvs_c": "c.274C>G",
"hgvs_p": "p.Pro92Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608640.1",
"strand": true,
"transcript": "ENST00000938581.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 679,
"aa_ref": "P",
"aa_start": 97,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2676,
"cdna_start": 299,
"cds_end": null,
"cds_length": 2040,
"cds_start": 289,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000898162.1",
"gene_hgnc_id": 24717,
"gene_symbol": "PTCD3",
"hgvs_c": "c.289C>G",
"hgvs_p": "p.Pro97Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568221.1",
"strand": true,
"transcript": "ENST00000898162.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 672,
"aa_ref": "P",
"aa_start": 97,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2269,
"cdna_start": 309,
"cds_end": null,
"cds_length": 2019,
"cds_start": 289,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000898163.1",
"gene_hgnc_id": 24717,
"gene_symbol": "PTCD3",
"hgvs_c": "c.289C>G",
"hgvs_p": "p.Pro97Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568222.1",
"strand": true,
"transcript": "ENST00000898163.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 671,
"aa_ref": "P",
"aa_start": 97,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3153,
"cdna_start": 309,
"cds_end": null,
"cds_length": 2016,
"cds_start": 289,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000898156.1",
"gene_hgnc_id": 24717,
"gene_symbol": "PTCD3",
"hgvs_c": "c.289C>G",
"hgvs_p": "p.Pro97Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568215.1",
"strand": true,
"transcript": "ENST00000898156.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 669,
"aa_ref": "P",
"aa_start": 97,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2599,
"cdna_start": 300,
"cds_end": null,
"cds_length": 2010,
"cds_start": 289,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000938580.1",
"gene_hgnc_id": 24717,
"gene_symbol": "PTCD3",
"hgvs_c": "c.289C>G",
"hgvs_p": "p.Pro97Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608639.1",
"strand": true,
"transcript": "ENST00000938580.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 654,
"aa_ref": "P",
"aa_start": 97,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4648,
"cdna_start": 309,
"cds_end": null,
"cds_length": 1965,
"cds_start": 289,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000971271.1",
"gene_hgnc_id": 24717,
"gene_symbol": "PTCD3",
"hgvs_c": "c.289C>G",
"hgvs_p": "p.Pro97Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641330.1",
"strand": true,
"transcript": "ENST00000971271.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 651,
"aa_ref": "P",
"aa_start": 97,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2607,
"cdna_start": 311,
"cds_end": null,
"cds_length": 1956,
"cds_start": 289,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000938579.1",
"gene_hgnc_id": 24717,
"gene_symbol": "PTCD3",
"hgvs_c": "c.289C>G",
"hgvs_p": "p.Pro97Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608638.1",
"strand": true,
"transcript": "ENST00000938579.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 642,
"aa_ref": "P",
"aa_start": 97,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3059,
"cdna_start": 302,
"cds_end": null,
"cds_length": 1929,
"cds_start": 289,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000898157.1",
"gene_hgnc_id": 24717,
"gene_symbol": "PTCD3",
"hgvs_c": "c.289C>G",
"hgvs_p": "p.Pro97Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568216.1",
"strand": true,
"transcript": "ENST00000898157.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 640,
"aa_ref": "P",
"aa_start": 97,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3078,
"cdna_start": 314,
"cds_end": null,
"cds_length": 1923,
"cds_start": 289,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000898152.1",
"gene_hgnc_id": 24717,
"gene_symbol": "PTCD3",
"hgvs_c": "c.289C>G",
"hgvs_p": "p.Pro97Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568211.1",
"strand": true,
"transcript": "ENST00000898152.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 639,
"aa_ref": "P",
"aa_start": 97,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2170,
"cdna_start": 309,
"cds_end": null,
"cds_length": 1920,
"cds_start": 289,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000971274.1",
"gene_hgnc_id": 24717,
"gene_symbol": "PTCD3",
"hgvs_c": "c.289C>G",
"hgvs_p": "p.Pro97Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641333.1",
"strand": true,
"transcript": "ENST00000971274.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 638,
"aa_ref": "P",
"aa_start": 97,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2556,
"cdna_start": 302,
"cds_end": null,
"cds_length": 1917,
"cds_start": 289,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000971272.1",
"gene_hgnc_id": 24717,
"gene_symbol": "PTCD3",
"hgvs_c": "c.289C>G",
"hgvs_p": "p.Pro97Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641331.1",
"strand": true,
"transcript": "ENST00000971272.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 636,
"aa_ref": "P",
"aa_start": 97,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4623,
"cdna_start": 314,
"cds_end": null,
"cds_length": 1911,
"cds_start": 289,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000898151.1",
"gene_hgnc_id": 24717,
"gene_symbol": "PTCD3",
"hgvs_c": "c.289C>G",
"hgvs_p": "p.Pro97Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568210.1",
"strand": true,
"transcript": "ENST00000898151.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 622,
"aa_ref": "P",
"aa_start": 97,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3012,
"cdna_start": 302,
"cds_end": null,
"cds_length": 1869,
"cds_start": 289,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000898154.1",
"gene_hgnc_id": 24717,
"gene_symbol": "PTCD3",
"hgvs_c": "c.289C>G",
"hgvs_p": "p.Pro97Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568213.1",
"strand": true,
"transcript": "ENST00000898154.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 486,
"aa_ref": "P",
"aa_start": 97,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2123,
"cdna_start": 310,
"cds_end": null,
"cds_length": 1461,
"cds_start": 289,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000938578.1",
"gene_hgnc_id": 24717,
"gene_symbol": "PTCD3",
"hgvs_c": "c.289C>G",
"hgvs_p": "p.Pro97Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608637.1",
"strand": true,
"transcript": "ENST00000938578.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 485,
"aa_ref": "P",
"aa_start": 97,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2096,
"cdna_start": 300,
"cds_end": null,
"cds_length": 1458,
"cds_start": 289,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000971273.1",
"gene_hgnc_id": 24717,
"gene_symbol": "PTCD3",
"hgvs_c": "c.289C>G",
"hgvs_p": "p.Pro97Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641332.1",
"strand": true,
"transcript": "ENST00000971273.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 186,
"aa_ref": "P",
"aa_start": 97,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 587,
"cdna_start": 313,
"cds_end": null,
"cds_length": 563,
"cds_start": 289,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000409783.6",
"gene_hgnc_id": 24717,
"gene_symbol": "PTCD3",
"hgvs_c": "c.289C>G",
"hgvs_p": "p.Pro97Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386922.3",
"strand": true,
"transcript": "ENST00000409783.6",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 631,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2551,
"cdna_start": null,
"cds_end": null,
"cds_length": 1896,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000898159.1",
"gene_hgnc_id": 24717,
"gene_symbol": "PTCD3",
"hgvs_c": "c.241-2343C>G",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568218.1",
"strand": true,
"transcript": "ENST00000898159.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 522,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000409326.6",
"gene_hgnc_id": 24717,
"gene_symbol": "PTCD3",
"hgvs_c": "n.*135C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000386963.2",
"strand": true,
"transcript": "ENST00000409326.6",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 532,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000418628.5",
"gene_hgnc_id": 24717,
"gene_symbol": "PTCD3",
"hgvs_c": "n.*214C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000394441.1",
"strand": true,
"transcript": "ENST00000418628.5",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 747,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000465560.5",
"gene_hgnc_id": 24717,
"gene_symbol": "PTCD3",
"hgvs_c": "n.314C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000465560.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 576,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000483925.1",
"gene_hgnc_id": 24717,
"gene_symbol": "PTCD3",
"hgvs_c": "n.190C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000483925.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 522,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000409326.6",
"gene_hgnc_id": 24717,
"gene_symbol": "PTCD3",
"hgvs_c": "n.*135C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000386963.2",
"strand": true,
"transcript": "ENST00000409326.6",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 532,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000418628.5",
"gene_hgnc_id": 24717,
"gene_symbol": "PTCD3",
"hgvs_c": "n.*214C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000394441.1",
"strand": true,
"transcript": "ENST00000418628.5",
"transcript_support_level": 4
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs200222766",
"effect": "missense_variant",
"frequency_reference_population": 0.000002058856,
"gene_hgnc_id": 24717,
"gene_symbol": "PTCD3",
"gnomad_exomes_ac": 3,
"gnomad_exomes_af": 0.00000205886,
"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": "Uncertain_significance",
"phylop100way_score": 6.285,
"pos": 86116578,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.277,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_017952.6"
}
]
}