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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: X-72464707-GGCTTGGT-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=72464707&ref=GGCTTGGT&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 72464707,
"ref": "GGCTTGGT",
"alt": "G",
"effect": "frameshift_variant",
"transcript": "ENST00000373573.9",
"consequences": [
{
"aa_ref": "YQA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.755_761delACCAAGC",
"hgvs_p": "p.Tyr252fs",
"transcript": "NM_018486.3",
"protein_id": "NP_060956.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 377,
"cds_start": 755,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 843,
"cdna_end": null,
"cdna_length": 1754,
"mane_select": "ENST00000373573.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "YQA",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.755_761delACCAAGC",
"hgvs_p": "p.Tyr252fs",
"transcript": "ENST00000373573.9",
"protein_id": "ENSP00000362674.3",
"transcript_support_level": 1,
"aa_start": 252,
"aa_end": null,
"aa_length": 377,
"cds_start": 755,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 843,
"cdna_end": null,
"cdna_length": 1754,
"mane_select": "NM_018486.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "YQA",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285547",
"gene_hgnc_id": null,
"hgvs_c": "c.755_761delACCAAGC",
"hgvs_p": "p.Tyr252fs",
"transcript": "ENST00000648922.1",
"protein_id": "ENSP00000497072.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 555,
"cds_start": 755,
"cds_end": null,
"cds_length": 1670,
"cdna_start": 843,
"cdna_end": null,
"cdna_length": 1752,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "n.*453_*459delACCAAGC",
"hgvs_p": null,
"transcript": "ENST00000412342.6",
"protein_id": "ENSP00000400180.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 687,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "n.*453_*459delACCAAGC",
"hgvs_p": null,
"transcript": "ENST00000412342.6",
"protein_id": "ENSP00000400180.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 687,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "YQA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.755_761delACCAAGC",
"hgvs_p": "p.Tyr252fs",
"transcript": "ENST00000373568.7",
"protein_id": "ENSP00000362669.3",
"transcript_support_level": 5,
"aa_start": 252,
"aa_end": null,
"aa_length": 417,
"cds_start": 755,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 842,
"cdna_end": null,
"cdna_length": 1625,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "YQA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.755_761delACCAAGC",
"hgvs_p": "p.Tyr252fs",
"transcript": "ENST00000648452.1",
"protein_id": "ENSP00000497268.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 414,
"cds_start": 755,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 865,
"cdna_end": null,
"cdna_length": 1865,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "YQA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.755_761delACCAAGC",
"hgvs_p": "p.Tyr252fs",
"transcript": "NM_001410725.1",
"protein_id": "NP_001397654.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 403,
"cds_start": 755,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 843,
"cdna_end": null,
"cdna_length": 1832,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "YQA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.755_761delACCAAGC",
"hgvs_p": "p.Tyr252fs",
"transcript": "ENST00000647886.1",
"protein_id": "ENSP00000497188.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 403,
"cds_start": 755,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 859,
"cdna_end": null,
"cdna_length": 1807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "YQA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.749_755delACCAAGC",
"hgvs_p": "p.Tyr250fs",
"transcript": "ENST00000647980.1",
"protein_id": "ENSP00000498002.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 375,
"cds_start": 749,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 841,
"cdna_end": null,
"cdna_length": 1700,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "YQA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.755_761delACCAAGC",
"hgvs_p": "p.Tyr252fs",
"transcript": "ENST00000647594.1",
"protein_id": "ENSP00000496814.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 373,
"cds_start": 755,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 865,
"cdna_end": null,
"cdna_length": 1785,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "YQA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.755_761delACCAAGC",
"hgvs_p": "p.Tyr252fs",
"transcript": "ENST00000647859.1",
"protein_id": "ENSP00000497530.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 373,
"cds_start": 755,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 843,
"cdna_end": null,
"cdna_length": 2502,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "YQA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.677_683delACCAAGC",
"hgvs_p": "p.Tyr226fs",
"transcript": "NM_001410727.1",
"protein_id": "NP_001397656.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 351,
"cds_start": 677,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 765,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.677_683delACCAAGC",
"hgvs_p": "p.Tyr226fs",
"transcript": "ENST00000373583.6",
"protein_id": "ENSP00000362685.2",
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"aa_end": null,
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"cds_start": 677,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.755_761delACCAAGC",
"hgvs_p": "p.Tyr252fs",
"transcript": "ENST00000648298.1",
"protein_id": "ENSP00000496866.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 350,
"cds_start": 755,
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"cdna_start": 843,
"cdna_end": null,
"cdna_length": 5689,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.755_761delACCAAGC",
"hgvs_p": "p.Tyr252fs",
"transcript": "ENST00000415409.6",
"protein_id": "ENSP00000396424.2",
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.755_761delACCAAGC",
"hgvs_p": "p.Tyr252fs",
"transcript": "ENST00000648870.1",
"protein_id": "ENSP00000497599.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 337,
"cds_start": 755,
"cds_end": null,
"cds_length": 1014,
"cdna_start": 856,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.455_461delACCAAGC",
"hgvs_p": "p.Tyr152fs",
"transcript": "ENST00000648139.1",
"protein_id": "ENSP00000496818.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 317,
"cds_start": 455,
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"cds_length": 954,
"cdna_start": 516,
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"mane_select": null,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.482_488delACCAAGC",
"hgvs_p": "p.Tyr161fs",
"transcript": "NM_001410728.1",
"protein_id": "NP_001397657.1",
"transcript_support_level": null,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.482_488delACCAAGC",
"hgvs_p": "p.Tyr161fs",
"transcript": "ENST00000647654.1",
"protein_id": "ENSP00000497568.1",
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"aa_start": 161,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 8,
"exon_rank_end": null,
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"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.755_761delACCAAGC",
"hgvs_p": "p.Tyr252fs",
"transcript": "NM_001410729.1",
"protein_id": "NP_001397658.1",
"transcript_support_level": null,
"aa_start": 252,
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"aa_length": 307,
"cds_start": 755,
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"cdna_start": 843,
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"cdna_length": 5696,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "YQA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.482_488delACCAAGC",
"hgvs_p": "p.Tyr161fs",
"transcript": "NM_001166418.2",
"protein_id": "NP_001159890.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 286,
"cds_start": 482,
"cds_end": null,
"cds_length": 861,
"cdna_start": 570,
"cdna_end": null,
"cdna_length": 1481,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "YQA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": 9,
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"exon_count": 11,
"intron_rank": null,
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"gene_symbol": "HDAC8",
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"transcript": "ENST00000649543.1",
"protein_id": "ENSP00000496826.1",
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"aa_start": null,
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"cdna_start": null,
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"cdna_length": 1941,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
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"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "n.*199_*205delACCAAGC",
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"transcript": "ENST00000650471.1",
"protein_id": "ENSP00000498027.1",
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
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"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.209+24219_209+24225delACCAAGC",
"hgvs_p": null,
"transcript": "ENST00000650076.1",
"protein_id": "ENSP00000497022.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 162,
"cds_start": -4,
"cds_end": null,
"cds_length": 489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 971,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.-2_5delACCAAGC",
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"transcript": "ENST00000648276.1",
"protein_id": "ENSP00000497619.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 167,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 652,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "n.-152_-146delACCAAGC",
"hgvs_p": null,
"transcript": "ENST00000470998.2",
"protein_id": "ENSP00000497317.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 333,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"dbsnp": "rs1555993215",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 4.739,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "ENST00000373573.9",
"gene_symbol": "HDAC8",
"hgnc_id": 13315,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "XL,AD",
"hgvs_c": "c.755_761delACCAAGC",
"hgvs_p": "p.Tyr252fs"
},
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "ENST00000648922.1",
"gene_symbol": "ENSG00000285547",
"hgnc_id": null,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.755_761delACCAAGC",
"hgvs_p": "p.Tyr252fs"
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}