← 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: 9-2804391-CAA-TAC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=2804391&ref=CAA&alt=TAC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "PUM3",
"hgnc_id": 29676,
"hgvs_c": "c.1885_1887delTTGinsGTA",
"hgvs_p": "p.Leu629Val",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_014878.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TAC",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "9",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 648,
"aa_ref": "L",
"aa_start": 629,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2187,
"cdna_start": 1948,
"cds_end": null,
"cds_length": 1947,
"cds_start": 1885,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_014878.5",
"gene_hgnc_id": 29676,
"gene_symbol": "PUM3",
"hgvs_c": "c.1885_1887delTTGinsGTA",
"hgvs_p": "p.Leu629Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000397885.3",
"protein_coding": true,
"protein_id": "NP_055693.4",
"strand": false,
"transcript": "NM_014878.5",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 648,
"aa_ref": "L",
"aa_start": 629,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2187,
"cdna_start": 1948,
"cds_end": null,
"cds_length": 1947,
"cds_start": 1885,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000397885.3",
"gene_hgnc_id": 29676,
"gene_symbol": "PUM3",
"hgvs_c": "c.1885_1887delTTGinsGTA",
"hgvs_p": "p.Leu629Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014878.5",
"protein_coding": true,
"protein_id": "ENSP00000380982.2",
"strand": false,
"transcript": "ENST00000397885.3",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 688,
"aa_ref": "L",
"aa_start": 669,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2337,
"cdna_start": 2098,
"cds_end": null,
"cds_length": 2067,
"cds_start": 2005,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000861029.1",
"gene_hgnc_id": 29676,
"gene_symbol": "PUM3",
"hgvs_c": "c.2005_2007delTTGinsGTA",
"hgvs_p": "p.Leu669Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531088.1",
"strand": false,
"transcript": "ENST00000861029.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 688,
"aa_ref": "L",
"aa_start": 669,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2388,
"cdna_start": 2085,
"cds_end": null,
"cds_length": 2067,
"cds_start": 2005,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000922208.1",
"gene_hgnc_id": 29676,
"gene_symbol": "PUM3",
"hgvs_c": "c.2005_2007delTTGinsGTA",
"hgvs_p": "p.Leu669Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592267.1",
"strand": false,
"transcript": "ENST00000922208.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 648,
"aa_ref": "L",
"aa_start": 629,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2249,
"cdna_start": 1936,
"cds_end": null,
"cds_length": 1947,
"cds_start": 1885,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000861028.1",
"gene_hgnc_id": 29676,
"gene_symbol": "PUM3",
"hgvs_c": "c.1885_1887delTTGinsGTA",
"hgvs_p": "p.Leu629Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531087.1",
"strand": false,
"transcript": "ENST00000861028.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 648,
"aa_ref": "L",
"aa_start": 629,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2210,
"cdna_start": 1977,
"cds_end": null,
"cds_length": 1947,
"cds_start": 1885,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000861034.1",
"gene_hgnc_id": 29676,
"gene_symbol": "PUM3",
"hgvs_c": "c.1885_1887delTTGinsGTA",
"hgvs_p": "p.Leu629Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531093.1",
"strand": false,
"transcript": "ENST00000861034.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 648,
"aa_ref": "L",
"aa_start": 629,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3300,
"cdna_start": 3059,
"cds_end": null,
"cds_length": 1947,
"cds_start": 1885,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000861035.1",
"gene_hgnc_id": 29676,
"gene_symbol": "PUM3",
"hgvs_c": "c.1885_1887delTTGinsGTA",
"hgvs_p": "p.Leu629Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531094.1",
"strand": false,
"transcript": "ENST00000861035.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 648,
"aa_ref": "L",
"aa_start": 629,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2463,
"cdna_start": 2224,
"cds_end": null,
"cds_length": 1947,
"cds_start": 1885,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000861036.1",
"gene_hgnc_id": 29676,
"gene_symbol": "PUM3",
"hgvs_c": "c.1885_1887delTTGinsGTA",
"hgvs_p": "p.Leu629Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531095.1",
"strand": false,
"transcript": "ENST00000861036.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 648,
"aa_ref": "L",
"aa_start": 629,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4028,
"cdna_start": 1949,
"cds_end": null,
"cds_length": 1947,
"cds_start": 1885,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000922205.1",
"gene_hgnc_id": 29676,
"gene_symbol": "PUM3",
"hgvs_c": "c.1885_1887delTTGinsGTA",
"hgvs_p": "p.Leu629Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592264.1",
"strand": false,
"transcript": "ENST00000922205.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 648,
"aa_ref": "L",
"aa_start": 629,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2694,
"cdna_start": 1981,
"cds_end": null,
"cds_length": 1947,
"cds_start": 1885,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000922206.1",
"gene_hgnc_id": 29676,
"gene_symbol": "PUM3",
"hgvs_c": "c.1885_1887delTTGinsGTA",
"hgvs_p": "p.Leu629Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592265.1",
"strand": false,
"transcript": "ENST00000922206.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 648,
"aa_ref": "L",
"aa_start": 629,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5000,
"cdna_start": 1983,
"cds_end": null,
"cds_length": 1947,
"cds_start": 1885,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000922207.1",
"gene_hgnc_id": 29676,
"gene_symbol": "PUM3",
"hgvs_c": "c.1885_1887delTTGinsGTA",
"hgvs_p": "p.Leu629Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592266.1",
"strand": false,
"transcript": "ENST00000922207.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 648,
"aa_ref": "L",
"aa_start": 629,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2175,
"cdna_start": 1915,
"cds_end": null,
"cds_length": 1947,
"cds_start": 1885,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000922209.1",
"gene_hgnc_id": 29676,
"gene_symbol": "PUM3",
"hgvs_c": "c.1885_1887delTTGinsGTA",
"hgvs_p": "p.Leu629Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592268.1",
"strand": false,
"transcript": "ENST00000922209.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 648,
"aa_ref": "L",
"aa_start": 629,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2282,
"cdna_start": 2043,
"cds_end": null,
"cds_length": 1947,
"cds_start": 1885,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000922212.1",
"gene_hgnc_id": 29676,
"gene_symbol": "PUM3",
"hgvs_c": "c.1885_1887delTTGinsGTA",
"hgvs_p": "p.Leu629Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592271.1",
"strand": false,
"transcript": "ENST00000922212.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 648,
"aa_ref": "L",
"aa_start": 629,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2294,
"cdna_start": 2055,
"cds_end": null,
"cds_length": 1947,
"cds_start": 1885,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000922213.1",
"gene_hgnc_id": 29676,
"gene_symbol": "PUM3",
"hgvs_c": "c.1885_1887delTTGinsGTA",
"hgvs_p": "p.Leu629Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592272.1",
"strand": false,
"transcript": "ENST00000922213.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 648,
"aa_ref": "L",
"aa_start": 629,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5732,
"cdna_start": 5504,
"cds_end": null,
"cds_length": 1947,
"cds_start": 1885,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000922215.1",
"gene_hgnc_id": 29676,
"gene_symbol": "PUM3",
"hgvs_c": "c.1885_1887delTTGinsGTA",
"hgvs_p": "p.Leu629Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592274.1",
"strand": false,
"transcript": "ENST00000922215.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 648,
"aa_ref": "L",
"aa_start": 629,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2491,
"cdna_start": 2263,
"cds_end": null,
"cds_length": 1947,
"cds_start": 1885,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000922216.1",
"gene_hgnc_id": 29676,
"gene_symbol": "PUM3",
"hgvs_c": "c.1885_1887delTTGinsGTA",
"hgvs_p": "p.Leu629Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592275.1",
"strand": false,
"transcript": "ENST00000922216.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 648,
"aa_ref": "L",
"aa_start": 629,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2264,
"cdna_start": 2037,
"cds_end": null,
"cds_length": 1947,
"cds_start": 1885,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000922217.1",
"gene_hgnc_id": 29676,
"gene_symbol": "PUM3",
"hgvs_c": "c.1885_1887delTTGinsGTA",
"hgvs_p": "p.Leu629Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592276.1",
"strand": false,
"transcript": "ENST00000922217.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 647,
"aa_ref": "L",
"aa_start": 628,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2177,
"cdna_start": 1943,
"cds_end": null,
"cds_length": 1944,
"cds_start": 1882,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000861032.1",
"gene_hgnc_id": 29676,
"gene_symbol": "PUM3",
"hgvs_c": "c.1882_1884delTTGinsGTA",
"hgvs_p": "p.Leu628Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531091.1",
"strand": false,
"transcript": "ENST00000861032.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 647,
"aa_ref": "L",
"aa_start": 628,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4732,
"cdna_start": 1980,
"cds_end": null,
"cds_length": 1944,
"cds_start": 1882,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000922210.1",
"gene_hgnc_id": 29676,
"gene_symbol": "PUM3",
"hgvs_c": "c.1882_1884delTTGinsGTA",
"hgvs_p": "p.Leu628Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592269.1",
"strand": false,
"transcript": "ENST00000922210.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 646,
"aa_ref": "L",
"aa_start": 627,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2205,
"cdna_start": 1976,
"cds_end": null,
"cds_length": 1941,
"cds_start": 1879,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000954334.1",
"gene_hgnc_id": 29676,
"gene_symbol": "PUM3",
"hgvs_c": "c.1879_1881delTTGinsGTA",
"hgvs_p": "p.Leu627Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624393.1",
"strand": false,
"transcript": "ENST00000954334.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 640,
"aa_ref": "L",
"aa_start": 621,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2151,
"cdna_start": 1924,
"cds_end": null,
"cds_length": 1923,
"cds_start": 1861,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000954335.1",
"gene_hgnc_id": 29676,
"gene_symbol": "PUM3",
"hgvs_c": "c.1861_1863delTTGinsGTA",
"hgvs_p": "p.Leu621Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624394.1",
"strand": false,
"transcript": "ENST00000954335.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 621,
"aa_ref": "L",
"aa_start": 602,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2112,
"cdna_start": 1873,
"cds_end": null,
"cds_length": 1866,
"cds_start": 1804,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000861031.1",
"gene_hgnc_id": 29676,
"gene_symbol": "PUM3",
"hgvs_c": "c.1804_1806delTTGinsGTA",
"hgvs_p": "p.Leu602Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531090.1",
"strand": false,
"transcript": "ENST00000861031.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 615,
"aa_ref": "L",
"aa_start": 596,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2095,
"cdna_start": 1858,
"cds_end": null,
"cds_length": 1848,
"cds_start": 1786,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000861030.1",
"gene_hgnc_id": 29676,
"gene_symbol": "PUM3",
"hgvs_c": "c.1786_1788delTTGinsGTA",
"hgvs_p": "p.Leu596Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531089.1",
"strand": false,
"transcript": "ENST00000861030.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 614,
"aa_ref": "L",
"aa_start": 595,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2047,
"cdna_start": 1824,
"cds_end": null,
"cds_length": 1845,
"cds_start": 1783,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000922214.1",
"gene_hgnc_id": 29676,
"gene_symbol": "PUM3",
"hgvs_c": "c.1783_1785delTTGinsGTA",
"hgvs_p": "p.Leu595Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592273.1",
"strand": false,
"transcript": "ENST00000922214.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 597,
"aa_ref": "L",
"aa_start": 578,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2044,
"cdna_start": 1805,
"cds_end": null,
"cds_length": 1794,
"cds_start": 1732,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000922211.1",
"gene_hgnc_id": 29676,
"gene_symbol": "PUM3",
"hgvs_c": "c.1732_1734delTTGinsGTA",
"hgvs_p": "p.Leu578Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592270.1",
"strand": false,
"transcript": "ENST00000922211.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 587,
"aa_ref": "L",
"aa_start": 568,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1959,
"cdna_start": 1734,
"cds_end": null,
"cds_length": 1764,
"cds_start": 1702,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000954336.1",
"gene_hgnc_id": 29676,
"gene_symbol": "PUM3",
"hgvs_c": "c.1702_1704delTTGinsGTA",
"hgvs_p": "p.Leu568Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624395.1",
"strand": false,
"transcript": "ENST00000954336.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 509,
"aa_ref": "L",
"aa_start": 490,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1744,
"cdna_start": 1505,
"cds_end": null,
"cds_length": 1530,
"cds_start": 1468,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000861033.1",
"gene_hgnc_id": 29676,
"gene_symbol": "PUM3",
"hgvs_c": "c.1468_1470delTTGinsGTA",
"hgvs_p": "p.Leu490Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531092.1",
"strand": false,
"transcript": "ENST00000861033.1",
"transcript_support_level": null
},
{
"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": 458,
"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": "ENST00000382032.3",
"gene_hgnc_id": 29676,
"gene_symbol": "PUM3",
"hgvs_c": "n.232_234delTTGinsGTA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000382032.3",
"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": 340,
"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": "ENST00000490444.2",
"gene_hgnc_id": 29676,
"gene_symbol": "PUM3",
"hgvs_c": "n.88_90delTTGinsGTA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000474467.1",
"strand": false,
"transcript": "ENST00000490444.2",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 29676,
"gene_symbol": "PUM3",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 5.264,
"pos": 2804391,
"ref": "CAA",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_014878.5"
}
]
}