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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: 5-138566714-CCT-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=138566714&ref=CCT&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 138566714,
"ref": "CCT",
"alt": "C",
"effect": "frameshift_variant,splice_region_variant",
"transcript": "NM_004134.7",
"consequences": [
{
"aa_ref": "TG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA9",
"gene_hgnc_id": 5244,
"hgvs_c": "c.882_883delAG",
"hgvs_p": "p.Val296fs",
"transcript": "NM_004134.7",
"protein_id": "NP_004125.3",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 679,
"cds_start": 882,
"cds_end": null,
"cds_length": 2040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000297185.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004134.7"
},
{
"aa_ref": "TG",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA9",
"gene_hgnc_id": 5244,
"hgvs_c": "c.882_883delAG",
"hgvs_p": "p.Val296fs",
"transcript": "ENST00000297185.9",
"protein_id": "ENSP00000297185.3",
"transcript_support_level": 1,
"aa_start": 294,
"aa_end": null,
"aa_length": 679,
"cds_start": 882,
"cds_end": null,
"cds_length": 2040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004134.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000297185.9"
},
{
"aa_ref": "TG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA9",
"gene_hgnc_id": 5244,
"hgvs_c": "c.882_883delAG",
"hgvs_p": "p.Val296fs",
"transcript": "ENST00000946847.1",
"protein_id": "ENSP00000616906.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 740,
"cds_start": 882,
"cds_end": null,
"cds_length": 2223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946847.1"
},
{
"aa_ref": "TG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA9",
"gene_hgnc_id": 5244,
"hgvs_c": "c.900_901delAG",
"hgvs_p": "p.Val302fs",
"transcript": "ENST00000936338.1",
"protein_id": "ENSP00000606397.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 685,
"cds_start": 900,
"cds_end": null,
"cds_length": 2058,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936338.1"
},
{
"aa_ref": "TG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA9",
"gene_hgnc_id": 5244,
"hgvs_c": "c.882_883delAG",
"hgvs_p": "p.Val296fs",
"transcript": "ENST00000946842.1",
"protein_id": "ENSP00000616901.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 677,
"cds_start": 882,
"cds_end": null,
"cds_length": 2034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946842.1"
},
{
"aa_ref": "TG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA9",
"gene_hgnc_id": 5244,
"hgvs_c": "c.882_883delAG",
"hgvs_p": "p.Val296fs",
"transcript": "ENST00000852879.1",
"protein_id": "ENSP00000522938.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 676,
"cds_start": 882,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852879.1"
},
{
"aa_ref": "TG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA9",
"gene_hgnc_id": 5244,
"hgvs_c": "c.882_883delAG",
"hgvs_p": "p.Val296fs",
"transcript": "ENST00000946845.1",
"protein_id": "ENSP00000616904.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 676,
"cds_start": 882,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946845.1"
},
{
"aa_ref": "TG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA9",
"gene_hgnc_id": 5244,
"hgvs_c": "c.882_883delAG",
"hgvs_p": "p.Val296fs",
"transcript": "ENST00000936335.1",
"protein_id": "ENSP00000606394.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 675,
"cds_start": 882,
"cds_end": null,
"cds_length": 2028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936335.1"
},
{
"aa_ref": "TG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA9",
"gene_hgnc_id": 5244,
"hgvs_c": "c.861_862delAG",
"hgvs_p": "p.Val289fs",
"transcript": "ENST00000946846.1",
"protein_id": "ENSP00000616905.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 672,
"cds_start": 861,
"cds_end": null,
"cds_length": 2019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946846.1"
},
{
"aa_ref": "TG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA9",
"gene_hgnc_id": 5244,
"hgvs_c": "c.882_883delAG",
"hgvs_p": "p.Val296fs",
"transcript": "ENST00000507115.6",
"protein_id": "ENSP00000423759.2",
"transcript_support_level": 3,
"aa_start": 294,
"aa_end": null,
"aa_length": 665,
"cds_start": 882,
"cds_end": null,
"cds_length": 1998,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000507115.6"
},
{
"aa_ref": "TG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA9",
"gene_hgnc_id": 5244,
"hgvs_c": "c.882_883delAG",
"hgvs_p": "p.Val296fs",
"transcript": "ENST00000852881.1",
"protein_id": "ENSP00000522940.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 660,
"cds_start": 882,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852881.1"
},
{
"aa_ref": "TG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA9",
"gene_hgnc_id": 5244,
"hgvs_c": "c.882_883delAG",
"hgvs_p": "p.Val296fs",
"transcript": "ENST00000946843.1",
"protein_id": "ENSP00000616902.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 644,
"cds_start": 882,
"cds_end": null,
"cds_length": 1935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946843.1"
},
{
"aa_ref": "TG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA9",
"gene_hgnc_id": 5244,
"hgvs_c": "c.675_676delAG",
"hgvs_p": "p.Val227fs",
"transcript": "ENST00000677066.1",
"protein_id": "ENSP00000502902.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 610,
"cds_start": 675,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677066.1"
},
{
"aa_ref": "TG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA9",
"gene_hgnc_id": 5244,
"hgvs_c": "c.675_676delAG",
"hgvs_p": "p.Val227fs",
"transcript": "ENST00000678300.1",
"protein_id": "ENSP00000503259.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 610,
"cds_start": 675,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678300.1"
},
{
"aa_ref": "TG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA9",
"gene_hgnc_id": 5244,
"hgvs_c": "c.675_676delAG",
"hgvs_p": "p.Val227fs",
"transcript": "ENST00000678384.1",
"protein_id": "ENSP00000503992.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 610,
"cds_start": 675,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678384.1"
},
{
"aa_ref": "TG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA9",
"gene_hgnc_id": 5244,
"hgvs_c": "c.882_883delAG",
"hgvs_p": "p.Val296fs",
"transcript": "ENST00000946844.1",
"protein_id": "ENSP00000616903.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 609,
"cds_start": 882,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946844.1"
},
{
"aa_ref": "TG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA9",
"gene_hgnc_id": 5244,
"hgvs_c": "c.882_883delAG",
"hgvs_p": "p.Val296fs",
"transcript": "ENST00000677064.1",
"protein_id": "ENSP00000503373.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 603,
"cds_start": 882,
"cds_end": null,
"cds_length": 1812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677064.1"
},
{
"aa_ref": "TG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA9",
"gene_hgnc_id": 5244,
"hgvs_c": "c.576_577delAG",
"hgvs_p": "p.Val194fs",
"transcript": "ENST00000678051.1",
"protein_id": "ENSP00000503219.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 577,
"cds_start": 576,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678051.1"
},
{
"aa_ref": "TG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA9",
"gene_hgnc_id": 5244,
"hgvs_c": "c.882_883delAG",
"hgvs_p": "p.Val296fs",
"transcript": "ENST00000936340.1",
"protein_id": "ENSP00000606399.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 533,
"cds_start": 882,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936340.1"
},
{
"aa_ref": "TG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA9",
"gene_hgnc_id": 5244,
"hgvs_c": "c.84_85delAG",
"hgvs_p": "p.Val30fs",
"transcript": "ENST00000852880.1",
"protein_id": "ENSP00000522939.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 413,
"cds_start": 84,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852880.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "HSPA9",
"gene_hgnc_id": 5244,
"hgvs_c": "c.879+285_879+286delAG",
"hgvs_p": null,
"transcript": "ENST00000677425.1",
"protein_id": "ENSP00000503066.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 648,
"cds_start": null,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677425.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 8,
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"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
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"gene_symbol": "HSPA9",
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"transcript": "ENST00000677693.1",
"protein_id": "ENSP00000503383.1",
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"aa_end": null,
"aa_length": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000677693.1"
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{
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"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
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"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA9",
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"hgvs_c": "n.*796_*797delAG",
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"transcript": "ENST00000677988.1",
"protein_id": "ENSP00000502960.1",
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000677988.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
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"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA9",
"gene_hgnc_id": 5244,
"hgvs_c": "n.*589_*590delAG",
"hgvs_p": null,
"transcript": "ENST00000678794.1",
"protein_id": "ENSP00000504274.1",
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000678794.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
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"gene_symbol": "ENSG00000299264",
"gene_hgnc_id": null,
"hgvs_c": "n.154-17113_154-17112delCT",
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"transcript": "ENST00000762014.1",
"protein_id": null,
"transcript_support_level": null,
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"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000762014.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000299264",
"gene_hgnc_id": null,
"hgvs_c": "n.165-763_165-762delCT",
"hgvs_p": null,
"transcript": "ENST00000762015.1",
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"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000762015.1"
}
],
"gene_symbol": "HSPA9",
"gene_hgnc_id": 5244,
"dbsnp": "rs772570880",
"frequency_reference_population": 0.00014574149,
"hom_count_reference_population": 0,
"allele_count_reference_population": 235,
"gnomad_exomes_af": 0.000154762,
"gnomad_genomes_af": 0.0000591568,
"gnomad_exomes_ac": 226,
"gnomad_genomes_ac": 9,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 5.911,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PVS1,PP5,BS1_Supporting",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 1,
"pathogenic_score": 9,
"criteria": [
"PVS1",
"PP5",
"BS1_Supporting"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_004134.7",
"gene_symbol": "HSPA9",
"hgnc_id": 5244,
"effects": [
"frameshift_variant",
"splice_region_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.882_883delAG",
"hgvs_p": "p.Val296fs"
},
{
"score": 1,
"benign_score": 0,
"pathogenic_score": 1,
"criteria": [
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000762014.1",
"gene_symbol": "ENSG00000299264",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.154-17113_154-17112delCT",
"hgvs_p": null
}
],
"clinvar_disease": "Autosomal dominant sideroblastic anemia,Even-plus syndrome,HSPA9-related disorder,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "P:2 LP:1 US:2",
"phenotype_combined": "Even-plus syndrome|HSPA9-related disorder|not provided|Autosomal dominant sideroblastic anemia",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}