← 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: 12-69253081-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=69253081&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"BP4_Moderate",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CPSF6",
"hgnc_id": 13871,
"hgvs_c": "c.301G>A",
"hgvs_p": "p.Val101Ile",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -6,
"transcript": "NM_001300947.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_score": -6,
"allele_count_reference_population": 59,
"alphamissense_prediction": null,
"alphamissense_score": 0.075,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.34,
"chr": "12",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.12184271216392517,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 551,
"aa_ref": "V",
"aa_start": 101,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6584,
"cdna_start": 379,
"cds_end": null,
"cds_length": 1656,
"cds_start": 301,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_007007.3",
"gene_hgnc_id": 13871,
"gene_symbol": "CPSF6",
"hgvs_c": "c.301G>A",
"hgvs_p": "p.Val101Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000435070.7",
"protein_coding": true,
"protein_id": "NP_008938.2",
"strand": true,
"transcript": "NM_007007.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 551,
"aa_ref": "V",
"aa_start": 101,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6584,
"cdna_start": 379,
"cds_end": null,
"cds_length": 1656,
"cds_start": 301,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000435070.7",
"gene_hgnc_id": 13871,
"gene_symbol": "CPSF6",
"hgvs_c": "c.301G>A",
"hgvs_p": "p.Val101Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_007007.3",
"protein_coding": true,
"protein_id": "ENSP00000391774.2",
"strand": true,
"transcript": "ENST00000435070.7",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 588,
"aa_ref": "V",
"aa_start": 101,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2229,
"cdna_start": 332,
"cds_end": null,
"cds_length": 1767,
"cds_start": 301,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000266679.8",
"gene_hgnc_id": 13871,
"gene_symbol": "CPSF6",
"hgvs_c": "c.301G>A",
"hgvs_p": "p.Val101Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000266679.8",
"strand": true,
"transcript": "ENST00000266679.8",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 600,
"aa_ref": "V",
"aa_start": 101,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2293,
"cdna_start": 361,
"cds_end": null,
"cds_length": 1803,
"cds_start": 301,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000886662.1",
"gene_hgnc_id": 13871,
"gene_symbol": "CPSF6",
"hgvs_c": "c.301G>A",
"hgvs_p": "p.Val101Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556721.1",
"strand": true,
"transcript": "ENST00000886662.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 595,
"aa_ref": "V",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3450,
"cdna_start": 338,
"cds_end": null,
"cds_length": 1788,
"cds_start": 322,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000927159.1",
"gene_hgnc_id": 13871,
"gene_symbol": "CPSF6",
"hgvs_c": "c.322G>A",
"hgvs_p": "p.Val108Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597218.1",
"strand": true,
"transcript": "ENST00000927159.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 595,
"aa_ref": "V",
"aa_start": 101,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2231,
"cdna_start": 313,
"cds_end": null,
"cds_length": 1788,
"cds_start": 301,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000927168.1",
"gene_hgnc_id": 13871,
"gene_symbol": "CPSF6",
"hgvs_c": "c.301G>A",
"hgvs_p": "p.Val101Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597227.1",
"strand": true,
"transcript": "ENST00000927168.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 589,
"aa_ref": "V",
"aa_start": 101,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3871,
"cdna_start": 379,
"cds_end": null,
"cds_length": 1770,
"cds_start": 301,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000886658.1",
"gene_hgnc_id": 13871,
"gene_symbol": "CPSF6",
"hgvs_c": "c.301G>A",
"hgvs_p": "p.Val101Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556717.1",
"strand": true,
"transcript": "ENST00000886658.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 589,
"aa_ref": "V",
"aa_start": 101,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2062,
"cdna_start": 361,
"cds_end": null,
"cds_length": 1770,
"cds_start": 301,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000927154.1",
"gene_hgnc_id": 13871,
"gene_symbol": "CPSF6",
"hgvs_c": "c.301G>A",
"hgvs_p": "p.Val101Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597213.1",
"strand": true,
"transcript": "ENST00000927154.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 589,
"aa_ref": "V",
"aa_start": 101,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1961,
"cdna_start": 376,
"cds_end": null,
"cds_length": 1770,
"cds_start": 301,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000927156.1",
"gene_hgnc_id": 13871,
"gene_symbol": "CPSF6",
"hgvs_c": "c.301G>A",
"hgvs_p": "p.Val101Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597215.1",
"strand": true,
"transcript": "ENST00000927156.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 589,
"aa_ref": "V",
"aa_start": 101,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5280,
"cdna_start": 343,
"cds_end": null,
"cds_length": 1770,
"cds_start": 301,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000941459.1",
"gene_hgnc_id": 13871,
"gene_symbol": "CPSF6",
"hgvs_c": "c.301G>A",
"hgvs_p": "p.Val101Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611518.1",
"strand": true,
"transcript": "ENST00000941459.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 588,
"aa_ref": "V",
"aa_start": 101,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6695,
"cdna_start": 379,
"cds_end": null,
"cds_length": 1767,
"cds_start": 301,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001300947.2",
"gene_hgnc_id": 13871,
"gene_symbol": "CPSF6",
"hgvs_c": "c.301G>A",
"hgvs_p": "p.Val101Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001287876.1",
"strand": true,
"transcript": "NM_001300947.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 588,
"aa_ref": "V",
"aa_start": 101,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5343,
"cdna_start": 376,
"cds_end": null,
"cds_length": 1767,
"cds_start": 301,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000886666.1",
"gene_hgnc_id": 13871,
"gene_symbol": "CPSF6",
"hgvs_c": "c.301G>A",
"hgvs_p": "p.Val101Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556725.1",
"strand": true,
"transcript": "ENST00000886666.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 563,
"aa_ref": "V",
"aa_start": 101,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2166,
"cdna_start": 345,
"cds_end": null,
"cds_length": 1692,
"cds_start": 301,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000941457.1",
"gene_hgnc_id": 13871,
"gene_symbol": "CPSF6",
"hgvs_c": "c.301G>A",
"hgvs_p": "p.Val101Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611516.1",
"strand": true,
"transcript": "ENST00000941457.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 558,
"aa_ref": "V",
"aa_start": 101,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2142,
"cdna_start": 338,
"cds_end": null,
"cds_length": 1677,
"cds_start": 301,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000927167.1",
"gene_hgnc_id": 13871,
"gene_symbol": "CPSF6",
"hgvs_c": "c.301G>A",
"hgvs_p": "p.Val101Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597226.1",
"strand": true,
"transcript": "ENST00000927167.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 557,
"aa_ref": "V",
"aa_start": 107,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2200,
"cdna_start": 415,
"cds_end": null,
"cds_length": 1674,
"cds_start": 319,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000886661.1",
"gene_hgnc_id": 13871,
"gene_symbol": "CPSF6",
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Val107Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556720.1",
"strand": true,
"transcript": "ENST00000886661.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 552,
"aa_ref": "V",
"aa_start": 101,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6610,
"cdna_start": 402,
"cds_end": null,
"cds_length": 1659,
"cds_start": 301,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000886657.1",
"gene_hgnc_id": 13871,
"gene_symbol": "CPSF6",
"hgvs_c": "c.301G>A",
"hgvs_p": "p.Val101Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556716.1",
"strand": true,
"transcript": "ENST00000886657.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 552,
"aa_ref": "V",
"aa_start": 101,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2156,
"cdna_start": 334,
"cds_end": null,
"cds_length": 1659,
"cds_start": 301,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000886663.1",
"gene_hgnc_id": 13871,
"gene_symbol": "CPSF6",
"hgvs_c": "c.301G>A",
"hgvs_p": "p.Val101Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556722.1",
"strand": true,
"transcript": "ENST00000886663.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 552,
"aa_ref": "V",
"aa_start": 101,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13533,
"cdna_start": 376,
"cds_end": null,
"cds_length": 1659,
"cds_start": 301,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000927157.1",
"gene_hgnc_id": 13871,
"gene_symbol": "CPSF6",
"hgvs_c": "c.301G>A",
"hgvs_p": "p.Val101Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597216.1",
"strand": true,
"transcript": "ENST00000927157.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 552,
"aa_ref": "V",
"aa_start": 101,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2159,
"cdna_start": 379,
"cds_end": null,
"cds_length": 1659,
"cds_start": 301,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000927164.1",
"gene_hgnc_id": 13871,
"gene_symbol": "CPSF6",
"hgvs_c": "c.301G>A",
"hgvs_p": "p.Val101Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597223.1",
"strand": true,
"transcript": "ENST00000927164.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 552,
"aa_ref": "V",
"aa_start": 101,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2341,
"cdna_start": 376,
"cds_end": null,
"cds_length": 1659,
"cds_start": 301,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000941456.1",
"gene_hgnc_id": 13871,
"gene_symbol": "CPSF6",
"hgvs_c": "c.301G>A",
"hgvs_p": "p.Val101Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611515.1",
"strand": true,
"transcript": "ENST00000941456.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 552,
"aa_ref": "V",
"aa_start": 101,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3278,
"cdna_start": 348,
"cds_end": null,
"cds_length": 1659,
"cds_start": 301,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000941458.1",
"gene_hgnc_id": 13871,
"gene_symbol": "CPSF6",
"hgvs_c": "c.301G>A",
"hgvs_p": "p.Val101Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611517.1",
"strand": true,
"transcript": "ENST00000941458.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 551,
"aa_ref": "V",
"aa_start": 101,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2328,
"cdna_start": 364,
"cds_end": null,
"cds_length": 1656,
"cds_start": 301,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000886656.1",
"gene_hgnc_id": 13871,
"gene_symbol": "CPSF6",
"hgvs_c": "c.301G>A",
"hgvs_p": "p.Val101Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556715.1",
"strand": true,
"transcript": "ENST00000886656.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 551,
"aa_ref": "V",
"aa_start": 101,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5262,
"cdna_start": 405,
"cds_end": null,
"cds_length": 1656,
"cds_start": 301,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000886665.1",
"gene_hgnc_id": 13871,
"gene_symbol": "CPSF6",
"hgvs_c": "c.301G>A",
"hgvs_p": "p.Val101Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556724.1",
"strand": true,
"transcript": "ENST00000886665.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 551,
"aa_ref": "V",
"aa_start": 101,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4291,
"cdna_start": 305,
"cds_end": null,
"cds_length": 1656,
"cds_start": 301,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000886667.1",
"gene_hgnc_id": 13871,
"gene_symbol": "CPSF6",
"hgvs_c": "c.301G>A",
"hgvs_p": "p.Val101Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556726.1",
"strand": true,
"transcript": "ENST00000886667.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 551,
"aa_ref": "V",
"aa_start": 101,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1850,
"cdna_start": 376,
"cds_end": null,
"cds_length": 1656,
"cds_start": 301,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000927155.1",
"gene_hgnc_id": 13871,
"gene_symbol": "CPSF6",
"hgvs_c": "c.301G>A",
"hgvs_p": "p.Val101Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597214.1",
"strand": true,
"transcript": "ENST00000927155.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 551,
"aa_ref": "V",
"aa_start": 101,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3669,
"cdna_start": 379,
"cds_end": null,
"cds_length": 1656,
"cds_start": 301,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000927158.1",
"gene_hgnc_id": 13871,
"gene_symbol": "CPSF6",
"hgvs_c": "c.301G>A",
"hgvs_p": "p.Val101Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597217.1",
"strand": true,
"transcript": "ENST00000927158.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 551,
"aa_ref": "V",
"aa_start": 101,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2199,
"cdna_start": 379,
"cds_end": null,
"cds_length": 1656,
"cds_start": 301,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000927163.1",
"gene_hgnc_id": 13871,
"gene_symbol": "CPSF6",
"hgvs_c": "c.301G>A",
"hgvs_p": "p.Val101Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597222.1",
"strand": true,
"transcript": "ENST00000927163.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 551,
"aa_ref": "V",
"aa_start": 101,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4177,
"cdna_start": 376,
"cds_end": null,
"cds_length": 1656,
"cds_start": 301,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000927165.1",
"gene_hgnc_id": 13871,
"gene_symbol": "CPSF6",
"hgvs_c": "c.301G>A",
"hgvs_p": "p.Val101Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597224.1",
"strand": true,
"transcript": "ENST00000927165.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 551,
"aa_ref": "V",
"aa_start": 101,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3590,
"cdna_start": 334,
"cds_end": null,
"cds_length": 1656,
"cds_start": 301,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000941460.1",
"gene_hgnc_id": 13871,
"gene_symbol": "CPSF6",
"hgvs_c": "c.301G>A",
"hgvs_p": "p.Val101Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611519.1",
"strand": true,
"transcript": "ENST00000941460.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 519,
"aa_ref": "V",
"aa_start": 101,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1799,
"cdna_start": 376,
"cds_end": null,
"cds_length": 1560,
"cds_start": 301,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000886664.1",
"gene_hgnc_id": 13871,
"gene_symbol": "CPSF6",
"hgvs_c": "c.301G>A",
"hgvs_p": "p.Val101Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556723.1",
"strand": true,
"transcript": "ENST00000886664.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 481,
"aa_ref": "V",
"aa_start": 31,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1657,
"cdna_start": 138,
"cds_end": null,
"cds_length": 1446,
"cds_start": 91,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000927169.1",
"gene_hgnc_id": 13871,
"gene_symbol": "CPSF6",
"hgvs_c": "c.91G>A",
"hgvs_p": "p.Val31Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597228.1",
"strand": true,
"transcript": "ENST00000927169.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 478,
"aa_ref": "V",
"aa_start": 101,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1915,
"cdna_start": 348,
"cds_end": null,
"cds_length": 1437,
"cds_start": 301,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000456847.7",
"gene_hgnc_id": 13871,
"gene_symbol": "CPSF6",
"hgvs_c": "c.301G>A",
"hgvs_p": "p.Val101Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000391437.3",
"strand": true,
"transcript": "ENST00000456847.7",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 435,
"aa_ref": "V",
"aa_start": 101,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1964,
"cdna_start": 343,
"cds_end": null,
"cds_length": 1308,
"cds_start": 301,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000927161.1",
"gene_hgnc_id": 13871,
"gene_symbol": "CPSF6",
"hgvs_c": "c.301G>A",
"hgvs_p": "p.Val101Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597220.1",
"strand": true,
"transcript": "ENST00000927161.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 434,
"aa_ref": "V",
"aa_start": 101,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1998,
"cdna_start": 376,
"cds_end": null,
"cds_length": 1305,
"cds_start": 301,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000886659.1",
"gene_hgnc_id": 13871,
"gene_symbol": "CPSF6",
"hgvs_c": "c.301G>A",
"hgvs_p": "p.Val101Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556718.1",
"strand": true,
"transcript": "ENST00000886659.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 403,
"aa_ref": "V",
"aa_start": 101,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1722,
"cdna_start": 376,
"cds_end": null,
"cds_length": 1212,
"cds_start": 301,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000927162.1",
"gene_hgnc_id": 13871,
"gene_symbol": "CPSF6",
"hgvs_c": "c.301G>A",
"hgvs_p": "p.Val101Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597221.1",
"strand": true,
"transcript": "ENST00000927162.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 402,
"aa_ref": "V",
"aa_start": 101,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1903,
"cdna_start": 379,
"cds_end": null,
"cds_length": 1209,
"cds_start": 301,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000927160.1",
"gene_hgnc_id": 13871,
"gene_symbol": "CPSF6",
"hgvs_c": "c.301G>A",
"hgvs_p": "p.Val101Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597219.1",
"strand": true,
"transcript": "ENST00000927160.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 386,
"aa_ref": "V",
"aa_start": 101,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1658,
"cdna_start": 367,
"cds_end": null,
"cds_length": 1161,
"cds_start": 301,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000927166.1",
"gene_hgnc_id": 13871,
"gene_symbol": "CPSF6",
"hgvs_c": "c.301G>A",
"hgvs_p": "p.Val101Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597225.1",
"strand": true,
"transcript": "ENST00000927166.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 376,
"aa_ref": "V",
"aa_start": 101,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1666,
"cdna_start": 405,
"cds_end": null,
"cds_length": 1131,
"cds_start": 301,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000886660.1",
"gene_hgnc_id": 13871,
"gene_symbol": "CPSF6",
"hgvs_c": "c.301G>A",
"hgvs_p": "p.Val101Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556719.1",
"strand": true,
"transcript": "ENST00000886660.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 589,
"aa_ref": "V",
"aa_start": 101,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6698,
"cdna_start": 379,
"cds_end": null,
"cds_length": 1770,
"cds_start": 301,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_005268588.4",
"gene_hgnc_id": 13871,
"gene_symbol": "CPSF6",
"hgvs_c": "c.301G>A",
"hgvs_p": "p.Val101Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005268645.1",
"strand": true,
"transcript": "XM_005268588.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 589,
"aa_ref": "V",
"aa_start": 101,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1852,
"cdna_start": 379,
"cds_end": null,
"cds_length": 1770,
"cds_start": 301,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047428132.1",
"gene_hgnc_id": 13871,
"gene_symbol": "CPSF6",
"hgvs_c": "c.301G>A",
"hgvs_p": "p.Val101Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047284088.1",
"strand": true,
"transcript": "XM_047428132.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 552,
"aa_ref": "V",
"aa_start": 101,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6587,
"cdna_start": 379,
"cds_end": null,
"cds_length": 1659,
"cds_start": 301,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_005268590.4",
"gene_hgnc_id": 13871,
"gene_symbol": "CPSF6",
"hgvs_c": "c.301G>A",
"hgvs_p": "p.Val101Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005268647.1",
"strand": true,
"transcript": "XM_005268590.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 56,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 234,
"cdna_start": null,
"cds_end": null,
"cds_length": 171,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000551516.1",
"gene_hgnc_id": 13871,
"gene_symbol": "CPSF6",
"hgvs_c": "c.73+1940G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000450206.1",
"strand": true,
"transcript": "ENST00000551516.1",
"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": 872,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000547486.1",
"gene_hgnc_id": 13871,
"gene_symbol": "CPSF6",
"hgvs_c": "n.195G>A",
"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": "ENST00000547486.1",
"transcript_support_level": 2
},
{
"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": 540,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000550075.5",
"gene_hgnc_id": 13871,
"gene_symbol": "CPSF6",
"hgvs_c": "n.*108G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000446670.1",
"strand": true,
"transcript": "ENST00000550075.5",
"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": 560,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000550987.5",
"gene_hgnc_id": 13871,
"gene_symbol": "CPSF6",
"hgvs_c": "n.328G>A",
"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": "ENST00000550987.5",
"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": 7525,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000650046.1",
"gene_hgnc_id": 13871,
"gene_symbol": "CPSF6",
"hgvs_c": "n.301G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000497420.1",
"strand": true,
"transcript": "ENST00000650046.1",
"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": 540,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000550075.5",
"gene_hgnc_id": 13871,
"gene_symbol": "CPSF6",
"hgvs_c": "n.*108G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000446670.1",
"strand": true,
"transcript": "ENST00000550075.5",
"transcript_support_level": 4
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs150030798",
"effect": "missense_variant",
"frequency_reference_population": 0.000037096514,
"gene_hgnc_id": 13871,
"gene_symbol": "CPSF6",
"gnomad_exomes_ac": 55,
"gnomad_exomes_af": 0.0000382378,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 4,
"gnomad_genomes_af": 0.0000263019,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 6.376,
"pos": 69253081,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.172,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.009999999776482582,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.01,
"transcript": "NM_001300947.2"
}
]
}