← Back to variant description
GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 5-138556481-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=138556481&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 14,
"criteria": [
"BP4_Strong",
"BP6",
"BP7",
"BA1"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "HSPA9",
"hgnc_id": 5244,
"hgvs_c": "c.1933C>T",
"hgvs_p": "p.Leu645Leu",
"inheritance_mode": "AD,AR",
"pathogenic_score": 0,
"score": -14,
"transcript": "NM_004134.7",
"verdict": "Benign"
},
{
"benign_score": 13,
"criteria": [
"BP4_Strong",
"BP6",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000299264",
"hgnc_id": 59150,
"hgvs_c": "n.153+13077G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -13,
"transcript": "ENST00000762014.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BP7,BA1",
"acmg_score": -14,
"allele_count_reference_population": 710049,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.59,
"chr": "5",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Even-plus syndrome,not provided",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 B:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.5899999737739563,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 679,
"aa_ref": "L",
"aa_start": 645,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4404,
"cdna_start": 2016,
"cds_end": null,
"cds_length": 2040,
"cds_start": 1933,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_004134.7",
"gene_hgnc_id": 5244,
"gene_symbol": "HSPA9",
"hgvs_c": "c.1933C>T",
"hgvs_p": "p.Leu645Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000297185.9",
"protein_coding": true,
"protein_id": "NP_004125.3",
"strand": false,
"transcript": "NM_004134.7",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 679,
"aa_ref": "L",
"aa_start": 645,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4404,
"cdna_start": 2016,
"cds_end": null,
"cds_length": 2040,
"cds_start": 1933,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000297185.9",
"gene_hgnc_id": 5244,
"gene_symbol": "HSPA9",
"hgvs_c": "c.1933C>T",
"hgvs_p": "p.Leu645Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004134.7",
"protein_coding": true,
"protein_id": "ENSP00000297185.3",
"strand": false,
"transcript": "ENST00000297185.9",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 740,
"aa_ref": "L",
"aa_start": 706,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2977,
"cdna_start": 2171,
"cds_end": null,
"cds_length": 2223,
"cds_start": 2116,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000946847.1",
"gene_hgnc_id": 5244,
"gene_symbol": "HSPA9",
"hgvs_c": "c.2116C>T",
"hgvs_p": "p.Leu706Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616906.1",
"strand": false,
"transcript": "ENST00000946847.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 685,
"aa_ref": "L",
"aa_start": 651,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2851,
"cdna_start": 2046,
"cds_end": null,
"cds_length": 2058,
"cds_start": 1951,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000936338.1",
"gene_hgnc_id": 5244,
"gene_symbol": "HSPA9",
"hgvs_c": "c.1951C>T",
"hgvs_p": "p.Leu651Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606397.1",
"strand": false,
"transcript": "ENST00000936338.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 677,
"aa_ref": "L",
"aa_start": 643,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3443,
"cdna_start": 2185,
"cds_end": null,
"cds_length": 2034,
"cds_start": 1927,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000946842.1",
"gene_hgnc_id": 5244,
"gene_symbol": "HSPA9",
"hgvs_c": "c.1927C>T",
"hgvs_p": "p.Leu643Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616901.1",
"strand": false,
"transcript": "ENST00000946842.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 676,
"aa_ref": "L",
"aa_start": 642,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2809,
"cdna_start": 2007,
"cds_end": null,
"cds_length": 2031,
"cds_start": 1924,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000852879.1",
"gene_hgnc_id": 5244,
"gene_symbol": "HSPA9",
"hgvs_c": "c.1924C>T",
"hgvs_p": "p.Leu642Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522938.1",
"strand": false,
"transcript": "ENST00000852879.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 676,
"aa_ref": "L",
"aa_start": 642,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2826,
"cdna_start": 2017,
"cds_end": null,
"cds_length": 2031,
"cds_start": 1924,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000946845.1",
"gene_hgnc_id": 5244,
"gene_symbol": "HSPA9",
"hgvs_c": "c.1924C>T",
"hgvs_p": "p.Leu642Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616904.1",
"strand": false,
"transcript": "ENST00000946845.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 675,
"aa_ref": "L",
"aa_start": 641,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2856,
"cdna_start": 2047,
"cds_end": null,
"cds_length": 2028,
"cds_start": 1921,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000936335.1",
"gene_hgnc_id": 5244,
"gene_symbol": "HSPA9",
"hgvs_c": "c.1921C>T",
"hgvs_p": "p.Leu641Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606394.1",
"strand": false,
"transcript": "ENST00000936335.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 672,
"aa_ref": "L",
"aa_start": 638,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2789,
"cdna_start": 2004,
"cds_end": null,
"cds_length": 2019,
"cds_start": 1912,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000946846.1",
"gene_hgnc_id": 5244,
"gene_symbol": "HSPA9",
"hgvs_c": "c.1912C>T",
"hgvs_p": "p.Leu638Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616905.1",
"strand": false,
"transcript": "ENST00000946846.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 665,
"aa_ref": "L",
"aa_start": 645,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2120,
"cdna_start": 2046,
"cds_end": null,
"cds_length": 1998,
"cds_start": 1933,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000507115.6",
"gene_hgnc_id": 5244,
"gene_symbol": "HSPA9",
"hgvs_c": "c.1933C>T",
"hgvs_p": "p.Leu645Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000423759.2",
"strand": false,
"transcript": "ENST00000507115.6",
"transcript_support_level": 3
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 660,
"aa_ref": "L",
"aa_start": 626,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2262,
"cdna_start": 1947,
"cds_end": null,
"cds_length": 1983,
"cds_start": 1876,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000852881.1",
"gene_hgnc_id": 5244,
"gene_symbol": "HSPA9",
"hgvs_c": "c.1876C>T",
"hgvs_p": "p.Leu626Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522940.1",
"strand": false,
"transcript": "ENST00000852881.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 648,
"aa_ref": "L",
"aa_start": 614,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4327,
"cdna_start": 1939,
"cds_end": null,
"cds_length": 1947,
"cds_start": 1840,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000677425.1",
"gene_hgnc_id": 5244,
"gene_symbol": "HSPA9",
"hgvs_c": "c.1840C>T",
"hgvs_p": "p.Leu614Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000503066.1",
"strand": false,
"transcript": "ENST00000677425.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 644,
"aa_ref": "L",
"aa_start": 610,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3189,
"cdna_start": 1930,
"cds_end": null,
"cds_length": 1935,
"cds_start": 1828,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000946843.1",
"gene_hgnc_id": 5244,
"gene_symbol": "HSPA9",
"hgvs_c": "c.1828C>T",
"hgvs_p": "p.Leu610Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616902.1",
"strand": false,
"transcript": "ENST00000946843.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 610,
"aa_ref": "L",
"aa_start": 576,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4479,
"cdna_start": 2091,
"cds_end": null,
"cds_length": 1833,
"cds_start": 1726,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000677066.1",
"gene_hgnc_id": 5244,
"gene_symbol": "HSPA9",
"hgvs_c": "c.1726C>T",
"hgvs_p": "p.Leu576Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502902.1",
"strand": false,
"transcript": "ENST00000677066.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 610,
"aa_ref": "L",
"aa_start": 576,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4415,
"cdna_start": 2027,
"cds_end": null,
"cds_length": 1833,
"cds_start": 1726,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000678300.1",
"gene_hgnc_id": 5244,
"gene_symbol": "HSPA9",
"hgvs_c": "c.1726C>T",
"hgvs_p": "p.Leu576Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000503259.1",
"strand": false,
"transcript": "ENST00000678300.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 610,
"aa_ref": "L",
"aa_start": 576,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4413,
"cdna_start": 2025,
"cds_end": null,
"cds_length": 1833,
"cds_start": 1726,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000678384.1",
"gene_hgnc_id": 5244,
"gene_symbol": "HSPA9",
"hgvs_c": "c.1726C>T",
"hgvs_p": "p.Leu576Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000503992.1",
"strand": false,
"transcript": "ENST00000678384.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 609,
"aa_ref": "L",
"aa_start": 575,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2635,
"cdna_start": 1827,
"cds_end": null,
"cds_length": 1830,
"cds_start": 1723,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000946844.1",
"gene_hgnc_id": 5244,
"gene_symbol": "HSPA9",
"hgvs_c": "c.1723C>T",
"hgvs_p": "p.Leu575Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616903.1",
"strand": false,
"transcript": "ENST00000946844.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 603,
"aa_ref": "L",
"aa_start": 569,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4196,
"cdna_start": 1808,
"cds_end": null,
"cds_length": 1812,
"cds_start": 1705,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000677064.1",
"gene_hgnc_id": 5244,
"gene_symbol": "HSPA9",
"hgvs_c": "c.1705C>T",
"hgvs_p": "p.Leu569Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000503373.1",
"strand": false,
"transcript": "ENST00000677064.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 577,
"aa_ref": "L",
"aa_start": 543,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4370,
"cdna_start": 1982,
"cds_end": null,
"cds_length": 1734,
"cds_start": 1627,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000678051.1",
"gene_hgnc_id": 5244,
"gene_symbol": "HSPA9",
"hgvs_c": "c.1627C>T",
"hgvs_p": "p.Leu543Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000503219.1",
"strand": false,
"transcript": "ENST00000678051.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 572,
"aa_ref": "L",
"aa_start": 538,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2444,
"cdna_start": 1636,
"cds_end": null,
"cds_length": 1719,
"cds_start": 1612,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000946848.1",
"gene_hgnc_id": 5244,
"gene_symbol": "HSPA9",
"hgvs_c": "c.1612C>T",
"hgvs_p": "p.Leu538Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616907.1",
"strand": false,
"transcript": "ENST00000946848.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 533,
"aa_ref": "L",
"aa_start": 499,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2381,
"cdna_start": 1575,
"cds_end": null,
"cds_length": 1602,
"cds_start": 1495,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000936340.1",
"gene_hgnc_id": 5244,
"gene_symbol": "HSPA9",
"hgvs_c": "c.1495C>T",
"hgvs_p": "p.Leu499Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606399.1",
"strand": false,
"transcript": "ENST00000936340.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 501,
"aa_ref": "L",
"aa_start": 467,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2301,
"cdna_start": 1492,
"cds_end": null,
"cds_length": 1506,
"cds_start": 1399,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000936337.1",
"gene_hgnc_id": 5244,
"gene_symbol": "HSPA9",
"hgvs_c": "c.1399C>T",
"hgvs_p": "p.Leu467Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606396.1",
"strand": false,
"transcript": "ENST00000936337.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 431,
"aa_ref": "L",
"aa_start": 397,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1630,
"cdna_start": 1235,
"cds_end": null,
"cds_length": 1296,
"cds_start": 1189,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000936341.1",
"gene_hgnc_id": 5244,
"gene_symbol": "HSPA9",
"hgvs_c": "c.1189C>T",
"hgvs_p": "p.Leu397Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606400.1",
"strand": false,
"transcript": "ENST00000936341.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 413,
"aa_ref": "L",
"aa_start": 379,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1532,
"cdna_start": 1218,
"cds_end": null,
"cds_length": 1242,
"cds_start": 1135,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000852880.1",
"gene_hgnc_id": 5244,
"gene_symbol": "HSPA9",
"hgvs_c": "c.1135C>T",
"hgvs_p": "p.Leu379Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522939.1",
"strand": false,
"transcript": "ENST00000852880.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 382,
"aa_ref": "L",
"aa_start": 348,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1457,
"cdna_start": 1141,
"cds_end": null,
"cds_length": 1149,
"cds_start": 1042,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000936343.1",
"gene_hgnc_id": 5244,
"gene_symbol": "HSPA9",
"hgvs_c": "c.1042C>T",
"hgvs_p": "p.Leu348Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606402.1",
"strand": false,
"transcript": "ENST00000936343.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 201,
"aa_ref": "L",
"aa_start": 167,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1399,
"cdna_start": 592,
"cds_end": null,
"cds_length": 606,
"cds_start": 499,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000852878.1",
"gene_hgnc_id": 5244,
"gene_symbol": "HSPA9",
"hgvs_c": "c.499C>T",
"hgvs_p": "p.Leu167Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522937.1",
"strand": false,
"transcript": "ENST00000852878.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 185,
"aa_ref": "L",
"aa_start": 151,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 868,
"cdna_start": 475,
"cds_end": null,
"cds_length": 558,
"cds_start": 451,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000936342.1",
"gene_hgnc_id": 5244,
"gene_symbol": "HSPA9",
"hgvs_c": "c.451C>T",
"hgvs_p": "p.Leu151Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606401.1",
"strand": false,
"transcript": "ENST00000936342.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 164,
"aa_ref": "L",
"aa_start": 130,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1284,
"cdna_start": 481,
"cds_end": null,
"cds_length": 495,
"cds_start": 388,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000936339.1",
"gene_hgnc_id": 5244,
"gene_symbol": "HSPA9",
"hgvs_c": "c.388C>T",
"hgvs_p": "p.Leu130Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606398.1",
"strand": false,
"transcript": "ENST00000936339.1",
"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": 482,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000512328.1",
"gene_hgnc_id": 5244,
"gene_symbol": "HSPA9",
"hgvs_c": "n.*78C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000421892.1",
"strand": false,
"transcript": "ENST00000512328.1",
"transcript_support_level": 3
},
{
"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": 3142,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000524109.2",
"gene_hgnc_id": 5244,
"gene_symbol": "HSPA9",
"hgvs_c": "n.2825C>T",
"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": "ENST00000524109.2",
"transcript_support_level": 5
},
{
"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": 4345,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000649578.2",
"gene_hgnc_id": 5244,
"gene_symbol": "HSPA9",
"hgvs_c": "n.*1316C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000497906.1",
"strand": false,
"transcript": "ENST00000649578.2",
"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": 7459,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000649692.2",
"gene_hgnc_id": 5244,
"gene_symbol": "HSPA9",
"hgvs_c": "n.6203C>T",
"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": "ENST00000649692.2",
"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": 4345,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000677527.1",
"gene_hgnc_id": 5244,
"gene_symbol": "HSPA9",
"hgvs_c": "n.*1757C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000503650.1",
"strand": false,
"transcript": "ENST00000677527.1",
"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": 4316,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000677553.1",
"gene_hgnc_id": 5244,
"gene_symbol": "HSPA9",
"hgvs_c": "n.*1757C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000502970.1",
"strand": false,
"transcript": "ENST00000677553.1",
"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": 4814,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000677693.1",
"gene_hgnc_id": 5244,
"gene_symbol": "HSPA9",
"hgvs_c": "n.*1847C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000503383.1",
"strand": false,
"transcript": "ENST00000677693.1",
"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": 4449,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000677988.1",
"gene_hgnc_id": 5244,
"gene_symbol": "HSPA9",
"hgvs_c": "n.*1847C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000502960.1",
"strand": false,
"transcript": "ENST00000677988.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2868,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000678551.1",
"gene_hgnc_id": 5244,
"gene_symbol": "HSPA9",
"hgvs_c": "n.1943C>T",
"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": "ENST00000678551.1",
"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": 4329,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000678794.1",
"gene_hgnc_id": 5244,
"gene_symbol": "HSPA9",
"hgvs_c": "n.*1640C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000504274.1",
"strand": false,
"transcript": "ENST00000678794.1",
"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": 482,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000512328.1",
"gene_hgnc_id": 5244,
"gene_symbol": "HSPA9",
"hgvs_c": "n.*78C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000421892.1",
"strand": false,
"transcript": "ENST00000512328.1",
"transcript_support_level": 3
},
{
"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": 4345,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000649578.2",
"gene_hgnc_id": 5244,
"gene_symbol": "HSPA9",
"hgvs_c": "n.*1316C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000497906.1",
"strand": false,
"transcript": "ENST00000649578.2",
"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": 4345,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000677527.1",
"gene_hgnc_id": 5244,
"gene_symbol": "HSPA9",
"hgvs_c": "n.*1757C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000503650.1",
"strand": false,
"transcript": "ENST00000677527.1",
"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": 4316,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000677553.1",
"gene_hgnc_id": 5244,
"gene_symbol": "HSPA9",
"hgvs_c": "n.*1757C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000502970.1",
"strand": false,
"transcript": "ENST00000677553.1",
"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": 4814,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000677693.1",
"gene_hgnc_id": 5244,
"gene_symbol": "HSPA9",
"hgvs_c": "n.*1847C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000503383.1",
"strand": false,
"transcript": "ENST00000677693.1",
"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": 4449,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000677988.1",
"gene_hgnc_id": 5244,
"gene_symbol": "HSPA9",
"hgvs_c": "n.*1847C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000502960.1",
"strand": false,
"transcript": "ENST00000677988.1",
"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": 4329,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000678794.1",
"gene_hgnc_id": 5244,
"gene_symbol": "HSPA9",
"hgvs_c": "n.*1640C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000504274.1",
"strand": false,
"transcript": "ENST00000678794.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 285,
"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": "ENST00000501917.7",
"gene_hgnc_id": 5244,
"gene_symbol": "HSPA9",
"hgvs_c": "n.104-940C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000501917.7",
"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": 332,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000762014.1",
"gene_hgnc_id": 59150,
"gene_symbol": "ENSG00000299264",
"hgvs_c": "n.153+13077G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000762014.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 334,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000762015.1",
"gene_hgnc_id": 59150,
"gene_symbol": "ENSG00000299264",
"hgvs_c": "n.165-10997G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000762015.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs10117",
"effect": "synonymous_variant",
"frequency_reference_population": 0.4403219,
"gene_hgnc_id": 5244,
"gene_symbol": "HSPA9",
"gnomad_exomes_ac": 631084,
"gnomad_exomes_af": 0.432087,
"gnomad_exomes_homalt": 144917,
"gnomad_genomes_ac": 78965,
"gnomad_genomes_af": 0.519438,
"gnomad_genomes_homalt": 22747,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 167664,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"phenotype_combined": "Even-plus syndrome|not provided",
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.926,
"pos": 138556481,
"ref": "G",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_004134.7"
}
]
}