← 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: 20-34710077-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=34710077&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TP53INP2",
"hgnc_id": 16104,
"hgvs_c": "c.433C>T",
"hgvs_p": "p.Arg145Cys",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_021202.3",
"verdict": "Uncertain_significance"
},
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"intron_variant"
],
"gene_symbol": "NCOA6",
"hgnc_id": 15936,
"hgvs_c": "n.39+4513G>A",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 1,
"transcript": "ENST00000434040.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.1743,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.46,
"chr": "20",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.36645910143852234,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 220,
"aa_ref": "R",
"aa_start": 145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4127,
"cdna_start": 768,
"cds_end": null,
"cds_length": 663,
"cds_start": 433,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_021202.3",
"gene_hgnc_id": 16104,
"gene_symbol": "TP53INP2",
"hgvs_c": "c.433C>T",
"hgvs_p": "p.Arg145Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000374810.8",
"protein_coding": true,
"protein_id": "NP_067025.1",
"strand": true,
"transcript": "NM_021202.3",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 220,
"aa_ref": "R",
"aa_start": 145,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4127,
"cdna_start": 768,
"cds_end": null,
"cds_length": 663,
"cds_start": 433,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000374810.8",
"gene_hgnc_id": 16104,
"gene_symbol": "TP53INP2",
"hgvs_c": "c.433C>T",
"hgvs_p": "p.Arg145Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_021202.3",
"protein_coding": true,
"protein_id": "ENSP00000363943.3",
"strand": true,
"transcript": "ENST00000374810.8",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 220,
"aa_ref": "R",
"aa_start": 145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4109,
"cdna_start": 750,
"cds_end": null,
"cds_length": 663,
"cds_start": 433,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001329429.2",
"gene_hgnc_id": 16104,
"gene_symbol": "TP53INP2",
"hgvs_c": "c.433C>T",
"hgvs_p": "p.Arg145Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001316358.1",
"strand": true,
"transcript": "NM_001329429.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 220,
"aa_ref": "R",
"aa_start": 145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4010,
"cdna_start": 651,
"cds_end": null,
"cds_length": 663,
"cds_start": 433,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001329430.2",
"gene_hgnc_id": 16104,
"gene_symbol": "TP53INP2",
"hgvs_c": "c.433C>T",
"hgvs_p": "p.Arg145Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001316359.1",
"strand": true,
"transcript": "NM_001329430.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 220,
"aa_ref": "R",
"aa_start": 145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4018,
"cdna_start": 659,
"cds_end": null,
"cds_length": 663,
"cds_start": 433,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001329431.2",
"gene_hgnc_id": 16104,
"gene_symbol": "TP53INP2",
"hgvs_c": "c.433C>T",
"hgvs_p": "p.Arg145Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001316360.1",
"strand": true,
"transcript": "NM_001329431.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 220,
"aa_ref": "R",
"aa_start": 145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4018,
"cdna_start": 656,
"cds_end": null,
"cds_length": 663,
"cds_start": 433,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000374809.6",
"gene_hgnc_id": 16104,
"gene_symbol": "TP53INP2",
"hgvs_c": "c.433C>T",
"hgvs_p": "p.Arg145Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000363942.2",
"strand": true,
"transcript": "ENST00000374809.6",
"transcript_support_level": 5
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 220,
"aa_ref": "R",
"aa_start": 145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3853,
"cdna_start": 491,
"cds_end": null,
"cds_length": 663,
"cds_start": 433,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000894582.1",
"gene_hgnc_id": 16104,
"gene_symbol": "TP53INP2",
"hgvs_c": "c.433C>T",
"hgvs_p": "p.Arg145Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564641.1",
"strand": true,
"transcript": "ENST00000894582.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 220,
"aa_ref": "R",
"aa_start": 145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4174,
"cdna_start": 812,
"cds_end": null,
"cds_length": 663,
"cds_start": 433,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000894583.1",
"gene_hgnc_id": 16104,
"gene_symbol": "TP53INP2",
"hgvs_c": "c.433C>T",
"hgvs_p": "p.Arg145Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564642.1",
"strand": true,
"transcript": "ENST00000894583.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 220,
"aa_ref": "R",
"aa_start": 145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4055,
"cdna_start": 695,
"cds_end": null,
"cds_length": 663,
"cds_start": 433,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000894584.1",
"gene_hgnc_id": 16104,
"gene_symbol": "TP53INP2",
"hgvs_c": "c.433C>T",
"hgvs_p": "p.Arg145Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564643.1",
"strand": true,
"transcript": "ENST00000894584.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 220,
"aa_ref": "R",
"aa_start": 145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4092,
"cdna_start": 733,
"cds_end": null,
"cds_length": 663,
"cds_start": 433,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000894585.1",
"gene_hgnc_id": 16104,
"gene_symbol": "TP53INP2",
"hgvs_c": "c.433C>T",
"hgvs_p": "p.Arg145Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564644.1",
"strand": true,
"transcript": "ENST00000894585.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 220,
"aa_ref": "R",
"aa_start": 145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4074,
"cdna_start": 715,
"cds_end": null,
"cds_length": 663,
"cds_start": 433,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000894586.1",
"gene_hgnc_id": 16104,
"gene_symbol": "TP53INP2",
"hgvs_c": "c.433C>T",
"hgvs_p": "p.Arg145Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564645.1",
"strand": true,
"transcript": "ENST00000894586.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 220,
"aa_ref": "R",
"aa_start": 145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4164,
"cdna_start": 807,
"cds_end": null,
"cds_length": 663,
"cds_start": 433,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000894588.1",
"gene_hgnc_id": 16104,
"gene_symbol": "TP53INP2",
"hgvs_c": "c.433C>T",
"hgvs_p": "p.Arg145Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564647.1",
"strand": true,
"transcript": "ENST00000894588.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 220,
"aa_ref": "R",
"aa_start": 145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4135,
"cdna_start": 776,
"cds_end": null,
"cds_length": 663,
"cds_start": 433,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000894589.1",
"gene_hgnc_id": 16104,
"gene_symbol": "TP53INP2",
"hgvs_c": "c.433C>T",
"hgvs_p": "p.Arg145Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564648.1",
"strand": true,
"transcript": "ENST00000894589.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 220,
"aa_ref": "R",
"aa_start": 145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4737,
"cdna_start": 1377,
"cds_end": null,
"cds_length": 663,
"cds_start": 433,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000894590.1",
"gene_hgnc_id": 16104,
"gene_symbol": "TP53INP2",
"hgvs_c": "c.433C>T",
"hgvs_p": "p.Arg145Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564649.1",
"strand": true,
"transcript": "ENST00000894590.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 220,
"aa_ref": "R",
"aa_start": 145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4005,
"cdna_start": 643,
"cds_end": null,
"cds_length": 663,
"cds_start": 433,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000894591.1",
"gene_hgnc_id": 16104,
"gene_symbol": "TP53INP2",
"hgvs_c": "c.433C>T",
"hgvs_p": "p.Arg145Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564650.1",
"strand": true,
"transcript": "ENST00000894591.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 220,
"aa_ref": "R",
"aa_start": 145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3933,
"cdna_start": 578,
"cds_end": null,
"cds_length": 663,
"cds_start": 433,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000894592.1",
"gene_hgnc_id": 16104,
"gene_symbol": "TP53INP2",
"hgvs_c": "c.433C>T",
"hgvs_p": "p.Arg145Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564651.1",
"strand": true,
"transcript": "ENST00000894592.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 220,
"aa_ref": "R",
"aa_start": 145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3908,
"cdna_start": 564,
"cds_end": null,
"cds_length": 663,
"cds_start": 433,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000894593.1",
"gene_hgnc_id": 16104,
"gene_symbol": "TP53INP2",
"hgvs_c": "c.433C>T",
"hgvs_p": "p.Arg145Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564652.1",
"strand": true,
"transcript": "ENST00000894593.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 220,
"aa_ref": "R",
"aa_start": 145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4098,
"cdna_start": 739,
"cds_end": null,
"cds_length": 663,
"cds_start": 433,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000894594.1",
"gene_hgnc_id": 16104,
"gene_symbol": "TP53INP2",
"hgvs_c": "c.433C>T",
"hgvs_p": "p.Arg145Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564653.1",
"strand": true,
"transcript": "ENST00000894594.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 220,
"aa_ref": "R",
"aa_start": 145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4537,
"cdna_start": 1180,
"cds_end": null,
"cds_length": 663,
"cds_start": 433,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000894595.1",
"gene_hgnc_id": 16104,
"gene_symbol": "TP53INP2",
"hgvs_c": "c.433C>T",
"hgvs_p": "p.Arg145Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564654.1",
"strand": true,
"transcript": "ENST00000894595.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 220,
"aa_ref": "R",
"aa_start": 145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4157,
"cdna_start": 798,
"cds_end": null,
"cds_length": 663,
"cds_start": 433,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000894596.1",
"gene_hgnc_id": 16104,
"gene_symbol": "TP53INP2",
"hgvs_c": "c.433C>T",
"hgvs_p": "p.Arg145Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564655.1",
"strand": true,
"transcript": "ENST00000894596.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 220,
"aa_ref": "R",
"aa_start": 145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4081,
"cdna_start": 770,
"cds_end": null,
"cds_length": 663,
"cds_start": 433,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000894597.1",
"gene_hgnc_id": 16104,
"gene_symbol": "TP53INP2",
"hgvs_c": "c.433C>T",
"hgvs_p": "p.Arg145Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564656.1",
"strand": true,
"transcript": "ENST00000894597.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 220,
"aa_ref": "R",
"aa_start": 145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4157,
"cdna_start": 800,
"cds_end": null,
"cds_length": 663,
"cds_start": 433,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000894598.1",
"gene_hgnc_id": 16104,
"gene_symbol": "TP53INP2",
"hgvs_c": "c.433C>T",
"hgvs_p": "p.Arg145Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564657.1",
"strand": true,
"transcript": "ENST00000894598.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 220,
"aa_ref": "R",
"aa_start": 145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3850,
"cdna_start": 539,
"cds_end": null,
"cds_length": 663,
"cds_start": 433,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000962433.1",
"gene_hgnc_id": 16104,
"gene_symbol": "TP53INP2",
"hgvs_c": "c.433C>T",
"hgvs_p": "p.Arg145Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632492.1",
"strand": true,
"transcript": "ENST00000962433.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 180,
"aa_ref": "R",
"aa_start": 105,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4033,
"cdna_start": 674,
"cds_end": null,
"cds_length": 543,
"cds_start": 313,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000894587.1",
"gene_hgnc_id": 16104,
"gene_symbol": "TP53INP2",
"hgvs_c": "c.313C>T",
"hgvs_p": "p.Arg105Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564646.1",
"strand": true,
"transcript": "ENST00000894587.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 218,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 660,
"cdna_start": null,
"cds_end": null,
"cds_length": 659,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000628752.2",
"gene_hgnc_id": 15936,
"gene_symbol": "NCOA6",
"hgvs_c": "c.557-12834G>A",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000486894.1",
"strand": false,
"transcript": "ENST00000628752.2",
"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": 519,
"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": "ENST00000434040.5",
"gene_hgnc_id": 15936,
"gene_symbol": "NCOA6",
"hgvs_c": "n.39+4513G>A",
"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": "ENST00000434040.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 827,
"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": "ENST00000593786.1",
"gene_hgnc_id": 15936,
"gene_symbol": "NCOA6",
"hgvs_c": "n.567+4513G>A",
"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": "ENST00000593786.1",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs766846796",
"effect": "missense_variant",
"frequency_reference_population": 0.0000017917872,
"gene_hgnc_id": 16104,
"gene_symbol": "TP53INP2",
"gnomad_exomes_ac": 2,
"gnomad_exomes_af": 0.00000179179,
"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": 2.748,
"pos": 34710077,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.094,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_021202.3"
}
]
}