← 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: 13-40933636-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=40933636&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ELF1",
"hgnc_id": 3316,
"hgvs_c": "c.1649G>T",
"hgvs_p": "p.Gly550Val",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_172373.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.3854,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.18,
"chr": "13",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.42898982763290405,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 619,
"aa_ref": "G",
"aa_start": 550,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3678,
"cdna_start": 1966,
"cds_end": null,
"cds_length": 1860,
"cds_start": 1649,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_172373.4",
"gene_hgnc_id": 3316,
"gene_symbol": "ELF1",
"hgvs_c": "c.1649G>T",
"hgvs_p": "p.Gly550Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000239882.7",
"protein_coding": true,
"protein_id": "NP_758961.1",
"strand": false,
"transcript": "NM_172373.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 619,
"aa_ref": "G",
"aa_start": 550,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3678,
"cdna_start": 1966,
"cds_end": null,
"cds_length": 1860,
"cds_start": 1649,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000239882.7",
"gene_hgnc_id": 3316,
"gene_symbol": "ELF1",
"hgvs_c": "c.1649G>T",
"hgvs_p": "p.Gly550Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_172373.4",
"protein_coding": true,
"protein_id": "ENSP00000239882.3",
"strand": false,
"transcript": "ENST00000239882.7",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 619,
"aa_ref": "G",
"aa_start": 550,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4138,
"cdna_start": 2426,
"cds_end": null,
"cds_length": 1860,
"cds_start": 1649,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001370330.1",
"gene_hgnc_id": 3316,
"gene_symbol": "ELF1",
"hgvs_c": "c.1649G>T",
"hgvs_p": "p.Gly550Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001357259.1",
"strand": false,
"transcript": "NM_001370330.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 619,
"aa_ref": "G",
"aa_start": 550,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3631,
"cdna_start": 1919,
"cds_end": null,
"cds_length": 1860,
"cds_start": 1649,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001370331.1",
"gene_hgnc_id": 3316,
"gene_symbol": "ELF1",
"hgvs_c": "c.1649G>T",
"hgvs_p": "p.Gly550Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001357260.1",
"strand": false,
"transcript": "NM_001370331.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 619,
"aa_ref": "G",
"aa_start": 550,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3986,
"cdna_start": 2274,
"cds_end": null,
"cds_length": 1860,
"cds_start": 1649,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001370332.1",
"gene_hgnc_id": 3316,
"gene_symbol": "ELF1",
"hgvs_c": "c.1649G>T",
"hgvs_p": "p.Gly550Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001357261.1",
"strand": false,
"transcript": "NM_001370332.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 619,
"aa_ref": "G",
"aa_start": 550,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4359,
"cdna_start": 2763,
"cds_end": null,
"cds_length": 1860,
"cds_start": 1649,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000891312.1",
"gene_hgnc_id": 3316,
"gene_symbol": "ELF1",
"hgvs_c": "c.1649G>T",
"hgvs_p": "p.Gly550Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561371.1",
"strand": false,
"transcript": "ENST00000891312.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 619,
"aa_ref": "G",
"aa_start": 550,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3988,
"cdna_start": 2383,
"cds_end": null,
"cds_length": 1860,
"cds_start": 1649,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000891313.1",
"gene_hgnc_id": 3316,
"gene_symbol": "ELF1",
"hgvs_c": "c.1649G>T",
"hgvs_p": "p.Gly550Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561372.1",
"strand": false,
"transcript": "ENST00000891313.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 619,
"aa_ref": "G",
"aa_start": 550,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4556,
"cdna_start": 2162,
"cds_end": null,
"cds_length": 1860,
"cds_start": 1649,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000891314.1",
"gene_hgnc_id": 3316,
"gene_symbol": "ELF1",
"hgvs_c": "c.1649G>T",
"hgvs_p": "p.Gly550Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561373.1",
"strand": false,
"transcript": "ENST00000891314.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 619,
"aa_ref": "G",
"aa_start": 550,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3559,
"cdna_start": 1955,
"cds_end": null,
"cds_length": 1860,
"cds_start": 1649,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000891315.1",
"gene_hgnc_id": 3316,
"gene_symbol": "ELF1",
"hgvs_c": "c.1649G>T",
"hgvs_p": "p.Gly550Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561374.1",
"strand": false,
"transcript": "ENST00000891315.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 619,
"aa_ref": "G",
"aa_start": 550,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3671,
"cdna_start": 2063,
"cds_end": null,
"cds_length": 1860,
"cds_start": 1649,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000891316.1",
"gene_hgnc_id": 3316,
"gene_symbol": "ELF1",
"hgvs_c": "c.1649G>T",
"hgvs_p": "p.Gly550Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561375.1",
"strand": false,
"transcript": "ENST00000891316.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 619,
"aa_ref": "G",
"aa_start": 550,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3779,
"cdna_start": 2173,
"cds_end": null,
"cds_length": 1860,
"cds_start": 1649,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000891317.1",
"gene_hgnc_id": 3316,
"gene_symbol": "ELF1",
"hgvs_c": "c.1649G>T",
"hgvs_p": "p.Gly550Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561376.1",
"strand": false,
"transcript": "ENST00000891317.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 619,
"aa_ref": "G",
"aa_start": 550,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3883,
"cdna_start": 2274,
"cds_end": null,
"cds_length": 1860,
"cds_start": 1649,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000891319.1",
"gene_hgnc_id": 3316,
"gene_symbol": "ELF1",
"hgvs_c": "c.1649G>T",
"hgvs_p": "p.Gly550Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561378.1",
"strand": false,
"transcript": "ENST00000891319.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 619,
"aa_ref": "G",
"aa_start": 550,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3764,
"cdna_start": 2157,
"cds_end": null,
"cds_length": 1860,
"cds_start": 1649,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000891320.1",
"gene_hgnc_id": 3316,
"gene_symbol": "ELF1",
"hgvs_c": "c.1649G>T",
"hgvs_p": "p.Gly550Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561379.1",
"strand": false,
"transcript": "ENST00000891320.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 619,
"aa_ref": "G",
"aa_start": 550,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3647,
"cdna_start": 2042,
"cds_end": null,
"cds_length": 1860,
"cds_start": 1649,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000891321.1",
"gene_hgnc_id": 3316,
"gene_symbol": "ELF1",
"hgvs_c": "c.1649G>T",
"hgvs_p": "p.Gly550Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561380.1",
"strand": false,
"transcript": "ENST00000891321.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 619,
"aa_ref": "G",
"aa_start": 550,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3685,
"cdna_start": 2083,
"cds_end": null,
"cds_length": 1860,
"cds_start": 1649,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000891322.1",
"gene_hgnc_id": 3316,
"gene_symbol": "ELF1",
"hgvs_c": "c.1649G>T",
"hgvs_p": "p.Gly550Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561381.1",
"strand": false,
"transcript": "ENST00000891322.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 619,
"aa_ref": "G",
"aa_start": 550,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3573,
"cdna_start": 2159,
"cds_end": null,
"cds_length": 1860,
"cds_start": 1649,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000891323.1",
"gene_hgnc_id": 3316,
"gene_symbol": "ELF1",
"hgvs_c": "c.1649G>T",
"hgvs_p": "p.Gly550Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561382.1",
"strand": false,
"transcript": "ENST00000891323.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 619,
"aa_ref": "G",
"aa_start": 550,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3989,
"cdna_start": 2392,
"cds_end": null,
"cds_length": 1860,
"cds_start": 1649,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000955689.1",
"gene_hgnc_id": 3316,
"gene_symbol": "ELF1",
"hgvs_c": "c.1649G>T",
"hgvs_p": "p.Gly550Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625748.1",
"strand": false,
"transcript": "ENST00000955689.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 614,
"aa_ref": "G",
"aa_start": 550,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2116,
"cdna_start": 1919,
"cds_end": null,
"cds_length": 1846,
"cds_start": 1649,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000635415.1",
"gene_hgnc_id": 3316,
"gene_symbol": "ELF1",
"hgvs_c": "c.1649G>T",
"hgvs_p": "p.Gly550Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000489586.1",
"strand": false,
"transcript": "ENST00000635415.1",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 595,
"aa_ref": "G",
"aa_start": 526,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3522,
"cdna_start": 1805,
"cds_end": null,
"cds_length": 1788,
"cds_start": 1577,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001145353.1",
"gene_hgnc_id": 3316,
"gene_symbol": "ELF1",
"hgvs_c": "c.1577G>T",
"hgvs_p": "p.Gly526Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001138825.1",
"strand": false,
"transcript": "NM_001145353.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 595,
"aa_ref": "G",
"aa_start": 526,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2032,
"cdna_start": 1748,
"cds_end": null,
"cds_length": 1788,
"cds_start": 1577,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000625359.1",
"gene_hgnc_id": 3316,
"gene_symbol": "ELF1",
"hgvs_c": "c.1577G>T",
"hgvs_p": "p.Gly526Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000486912.1",
"strand": false,
"transcript": "ENST00000625359.1",
"transcript_support_level": 2
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 591,
"aa_ref": "G",
"aa_start": 522,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3507,
"cdna_start": 1899,
"cds_end": null,
"cds_length": 1776,
"cds_start": 1565,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000891318.1",
"gene_hgnc_id": 3316,
"gene_symbol": "ELF1",
"hgvs_c": "c.1565G>T",
"hgvs_p": "p.Gly522Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561377.1",
"strand": false,
"transcript": "ENST00000891318.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 560,
"aa_ref": "G",
"aa_start": 491,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4257,
"cdna_start": 2545,
"cds_end": null,
"cds_length": 1683,
"cds_start": 1472,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001370329.1",
"gene_hgnc_id": 3316,
"gene_symbol": "ELF1",
"hgvs_c": "c.1472G>T",
"hgvs_p": "p.Gly491Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001357258.1",
"strand": false,
"transcript": "NM_001370329.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 469,
"aa_ref": "G",
"aa_start": 400,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2922,
"cdna_start": 1508,
"cds_end": null,
"cds_length": 1410,
"cds_start": 1199,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000891324.1",
"gene_hgnc_id": 3316,
"gene_symbol": "ELF1",
"hgvs_c": "c.1199G>T",
"hgvs_p": "p.Gly400Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561383.1",
"strand": false,
"transcript": "ENST00000891324.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 469,
"aa_ref": "G",
"aa_start": 400,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3074,
"cdna_start": 1469,
"cds_end": null,
"cds_length": 1410,
"cds_start": 1199,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000891325.1",
"gene_hgnc_id": 3316,
"gene_symbol": "ELF1",
"hgvs_c": "c.1199G>T",
"hgvs_p": "p.Gly400Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561384.1",
"strand": false,
"transcript": "ENST00000891325.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 469,
"aa_ref": "G",
"aa_start": 400,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3285,
"cdna_start": 1579,
"cds_end": null,
"cds_length": 1410,
"cds_start": 1199,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000955690.1",
"gene_hgnc_id": 3316,
"gene_symbol": "ELF1",
"hgvs_c": "c.1199G>T",
"hgvs_p": "p.Gly400Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625749.1",
"strand": false,
"transcript": "ENST00000955690.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 441,
"aa_ref": "G",
"aa_start": 372,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2988,
"cdna_start": 1380,
"cds_end": null,
"cds_length": 1326,
"cds_start": 1115,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000891326.1",
"gene_hgnc_id": 3316,
"gene_symbol": "ELF1",
"hgvs_c": "c.1115G>T",
"hgvs_p": "p.Gly372Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561385.1",
"strand": false,
"transcript": "ENST00000891326.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 619,
"aa_ref": "G",
"aa_start": 550,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4343,
"cdna_start": 2631,
"cds_end": null,
"cds_length": 1860,
"cds_start": 1649,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047430118.1",
"gene_hgnc_id": 3316,
"gene_symbol": "ELF1",
"hgvs_c": "c.1649G>T",
"hgvs_p": "p.Gly550Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047286074.1",
"strand": false,
"transcript": "XM_047430118.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 619,
"aa_ref": "G",
"aa_start": 550,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3858,
"cdna_start": 2146,
"cds_end": null,
"cds_length": 1860,
"cds_start": 1649,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_047430119.1",
"gene_hgnc_id": 3316,
"gene_symbol": "ELF1",
"hgvs_c": "c.1649G>T",
"hgvs_p": "p.Gly550Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047286075.1",
"strand": false,
"transcript": "XM_047430119.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 619,
"aa_ref": "G",
"aa_start": 550,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3741,
"cdna_start": 2029,
"cds_end": null,
"cds_length": 1860,
"cds_start": 1649,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047430120.1",
"gene_hgnc_id": 3316,
"gene_symbol": "ELF1",
"hgvs_c": "c.1649G>T",
"hgvs_p": "p.Gly550Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047286076.1",
"strand": false,
"transcript": "XM_047430120.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 619,
"aa_ref": "G",
"aa_start": 550,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3795,
"cdna_start": 2083,
"cds_end": null,
"cds_length": 1860,
"cds_start": 1649,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047430121.1",
"gene_hgnc_id": 3316,
"gene_symbol": "ELF1",
"hgvs_c": "c.1649G>T",
"hgvs_p": "p.Gly550Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047286077.1",
"strand": false,
"transcript": "XM_047430121.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 619,
"aa_ref": "G",
"aa_start": 550,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3934,
"cdna_start": 2222,
"cds_end": null,
"cds_length": 1860,
"cds_start": 1649,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_047430122.1",
"gene_hgnc_id": 3316,
"gene_symbol": "ELF1",
"hgvs_c": "c.1649G>T",
"hgvs_p": "p.Gly550Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047286078.1",
"strand": false,
"transcript": "XM_047430122.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 619,
"aa_ref": "G",
"aa_start": 550,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3869,
"cdna_start": 2157,
"cds_end": null,
"cds_length": 1860,
"cds_start": 1649,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047430123.1",
"gene_hgnc_id": 3316,
"gene_symbol": "ELF1",
"hgvs_c": "c.1649G>T",
"hgvs_p": "p.Gly550Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047286079.1",
"strand": false,
"transcript": "XM_047430123.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 619,
"aa_ref": "G",
"aa_start": 550,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3817,
"cdna_start": 2105,
"cds_end": null,
"cds_length": 1860,
"cds_start": 1649,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_047430124.1",
"gene_hgnc_id": 3316,
"gene_symbol": "ELF1",
"hgvs_c": "c.1649G>T",
"hgvs_p": "p.Gly550Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047286080.1",
"strand": false,
"transcript": "XM_047430124.1",
"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": 3672,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000498824.5",
"gene_hgnc_id": 3316,
"gene_symbol": "ELF1",
"hgvs_c": "n.*1392G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000487240.1",
"strand": false,
"transcript": "ENST00000498824.5",
"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": 3672,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000498824.5",
"gene_hgnc_id": 3316,
"gene_symbol": "ELF1",
"hgvs_c": "n.*1392G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000487240.1",
"strand": false,
"transcript": "ENST00000498824.5",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs773346594",
"effect": "missense_variant",
"frequency_reference_population": 0.000013142158,
"gene_hgnc_id": 3316,
"gene_symbol": "ELF1",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": 2,
"gnomad_genomes_af": 0.0000131422,
"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": null,
"phenotype_combined": null,
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 4.66,
"pos": 40933636,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.148,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_172373.4"
}
]
}