← 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: 5-272714-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=272714&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "PDCD6",
"hgnc_id": 8765,
"hgvs_c": "c.105C>G",
"hgvs_p": "p.Val35Val",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -3,
"transcript": "NM_013232.4",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000286001",
"hgnc_id": null,
"hgvs_c": "n.*1475C>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "ENST00000651543.1",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "PDCD6-AHRR",
"hgnc_id": 54724,
"hgvs_c": "n.105C>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "ENST00000675395.1",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "PDCD6-DT",
"hgnc_id": 55580,
"hgvs_c": "n.173-2507G>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "ENST00000753214.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_score": -3,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.57,
"chr": "5",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.5699999928474426,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 191,
"aa_ref": "V",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1110,
"cdna_start": 180,
"cds_end": null,
"cds_length": 576,
"cds_start": 105,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_013232.4",
"gene_hgnc_id": 8765,
"gene_symbol": "PDCD6",
"hgvs_c": "c.105C>G",
"hgvs_p": "p.Val35Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000264933.9",
"protein_coding": true,
"protein_id": "NP_037364.1",
"strand": true,
"transcript": "NM_013232.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 191,
"aa_ref": "V",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1110,
"cdna_start": 180,
"cds_end": null,
"cds_length": 576,
"cds_start": 105,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000264933.9",
"gene_hgnc_id": 8765,
"gene_symbol": "PDCD6",
"hgvs_c": "c.105C>G",
"hgvs_p": "p.Val35Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_013232.4",
"protein_coding": true,
"protein_id": "ENSP00000264933.4",
"strand": true,
"transcript": "ENST00000264933.9",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 189,
"aa_ref": "V",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1088,
"cdna_start": 169,
"cds_end": null,
"cds_length": 570,
"cds_start": 105,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000507528.5",
"gene_hgnc_id": 8765,
"gene_symbol": "PDCD6",
"hgvs_c": "c.105C>G",
"hgvs_p": "p.Val35Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000423815.1",
"strand": true,
"transcript": "ENST00000507528.5",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 55,
"aa_ref": "V",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1156,
"cdna_start": 169,
"cds_end": null,
"cds_length": 168,
"cds_start": 105,
"consequences": [
"synonymous_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000509581.5",
"gene_hgnc_id": 8765,
"gene_symbol": "PDCD6",
"hgvs_c": "c.105C>G",
"hgvs_p": "p.Val35Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000422691.1",
"strand": true,
"transcript": "ENST00000509581.5",
"transcript_support_level": 1
},
{
"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": 5820,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000505113.6",
"gene_hgnc_id": 54724,
"gene_symbol": "PDCD6-AHRR",
"hgvs_c": "n.105C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000424601.2",
"strand": true,
"transcript": "ENST00000505113.6",
"transcript_support_level": 1
},
{
"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": 855,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000515587.1",
"gene_hgnc_id": 8765,
"gene_symbol": "PDCD6",
"hgvs_c": "n.202C>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": "ENST00000515587.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 3665,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 24,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000651543.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000286001",
"hgvs_c": "n.*1475C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000499215.1",
"strand": true,
"transcript": "ENST00000651543.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 5874,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000675395.1",
"gene_hgnc_id": 54724,
"gene_symbol": "PDCD6-AHRR",
"hgvs_c": "n.105C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000502570.1",
"strand": true,
"transcript": "ENST00000675395.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 3665,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 24,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000651543.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000286001",
"hgvs_c": "n.*1475C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000499215.1",
"strand": true,
"transcript": "ENST00000651543.1",
"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": 1484,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000505526.1",
"gene_hgnc_id": 8765,
"gene_symbol": "PDCD6",
"hgvs_c": "n.101+893C>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000424201.1",
"strand": true,
"transcript": "ENST00000505526.1",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 197,
"aa_ref": "V",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1127,
"cdna_start": 180,
"cds_end": null,
"cds_length": 594,
"cds_start": 105,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000874098.1",
"gene_hgnc_id": 8765,
"gene_symbol": "PDCD6",
"hgvs_c": "c.105C>G",
"hgvs_p": "p.Val35Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544157.1",
"strand": true,
"transcript": "ENST00000874098.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 189,
"aa_ref": "V",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1104,
"cdna_start": 180,
"cds_end": null,
"cds_length": 570,
"cds_start": 105,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001267556.2",
"gene_hgnc_id": 8765,
"gene_symbol": "PDCD6",
"hgvs_c": "c.105C>G",
"hgvs_p": "p.Val35Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001254485.1",
"strand": true,
"transcript": "NM_001267556.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 123,
"aa_ref": "V",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 906,
"cdna_start": 180,
"cds_end": null,
"cds_length": 372,
"cds_start": 105,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001267557.2",
"gene_hgnc_id": 8765,
"gene_symbol": "PDCD6",
"hgvs_c": "c.105C>G",
"hgvs_p": "p.Val35Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001254486.1",
"strand": true,
"transcript": "NM_001267557.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 123,
"aa_ref": "V",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 931,
"cdna_start": 205,
"cds_end": null,
"cds_length": 372,
"cds_start": 105,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000618970.4",
"gene_hgnc_id": 8765,
"gene_symbol": "PDCD6",
"hgvs_c": "c.105C>G",
"hgvs_p": "p.Val35Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000482332.1",
"strand": true,
"transcript": "ENST00000618970.4",
"transcript_support_level": 3
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 104,
"aa_ref": "V",
"aa_start": 1,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 486,
"cdna_start": 3,
"cds_end": null,
"cds_length": 315,
"cds_start": 3,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000507473.1",
"gene_hgnc_id": 8765,
"gene_symbol": "PDCD6",
"hgvs_c": "c.3C>G",
"hgvs_p": "p.Val1Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000425370.1",
"strand": true,
"transcript": "ENST00000507473.1",
"transcript_support_level": 3
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 69,
"aa_ref": "V",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 841,
"cdna_start": 180,
"cds_end": null,
"cds_length": 210,
"cds_start": 105,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001267559.2",
"gene_hgnc_id": 8765,
"gene_symbol": "PDCD6",
"hgvs_c": "c.105C>G",
"hgvs_p": "p.Val35Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001254488.1",
"strand": true,
"transcript": "NM_001267559.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 69,
"aa_ref": "V",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 672,
"cdna_start": 179,
"cds_end": null,
"cds_length": 210,
"cds_start": 105,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000505221.5",
"gene_hgnc_id": 8765,
"gene_symbol": "PDCD6",
"hgvs_c": "c.105C>G",
"hgvs_p": "p.Val35Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000422085.1",
"strand": true,
"transcript": "ENST00000505221.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 121,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1025,
"cdna_start": null,
"cds_end": null,
"cds_length": 366,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001267558.2",
"gene_hgnc_id": 8765,
"gene_symbol": "PDCD6",
"hgvs_c": "c.-106C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001254487.1",
"strand": true,
"transcript": "NM_001267558.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 121,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1050,
"cdna_start": null,
"cds_end": null,
"cds_length": 366,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000614778.4",
"gene_hgnc_id": 8765,
"gene_symbol": "PDCD6",
"hgvs_c": "c.-106C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000485024.1",
"strand": true,
"transcript": "ENST00000614778.4",
"transcript_support_level": 2
},
{
"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": 3500,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000513582.5",
"gene_hgnc_id": 8765,
"gene_symbol": "PDCD6",
"hgvs_c": "n.201C>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": "ENST00000513582.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1167,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NR_073609.2",
"gene_hgnc_id": 8765,
"gene_symbol": "PDCD6",
"hgvs_c": "n.180C>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": "NR_073609.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 5892,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NR_165159.2",
"gene_hgnc_id": 54724,
"gene_symbol": "PDCD6-AHRR",
"hgvs_c": "n.180C>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": "NR_165159.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 5838,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NR_165163.2",
"gene_hgnc_id": 54724,
"gene_symbol": "PDCD6-AHRR",
"hgvs_c": "n.180C>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": "NR_165163.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 578,
"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": "ENST00000753214.1",
"gene_hgnc_id": 55580,
"gene_symbol": "PDCD6-DT",
"hgvs_c": "n.173-2507G>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": "ENST00000753214.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs145036962",
"effect": "synonymous_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 8765,
"gene_symbol": "PDCD6",
"gnomad_exomes_ac": 0,
"gnomad_exomes_af": 0,
"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": -0.358,
"pos": 272714,
"ref": "C",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.019999999552965164,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.02,
"transcript": "NM_013232.4"
}
]
}