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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-72464626-TGGAG-AC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=72464626&ref=TGGAG&alt=AC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 72464626,
"ref": "TGGAG",
"alt": "AC",
"effect": "missense_variant,disruptive_inframe_deletion",
"transcript": "ENST00000373573.9",
"consequences": [
{
"aa_ref": "TP",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.839_843delCTCCAinsGT",
"hgvs_p": "p.Thr280_Pro281delinsSer",
"transcript": "NM_018486.3",
"protein_id": "NP_060956.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 377,
"cds_start": 839,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 925,
"cdna_end": null,
"cdna_length": 1754,
"mane_select": "ENST00000373573.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TP",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.839_843delCTCCAinsGT",
"hgvs_p": "p.Thr280_Pro281delinsSer",
"transcript": "ENST00000373573.9",
"protein_id": "ENSP00000362674.3",
"transcript_support_level": 1,
"aa_start": 280,
"aa_end": null,
"aa_length": 377,
"cds_start": 839,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 925,
"cdna_end": null,
"cdna_length": 1754,
"mane_select": "NM_018486.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TP",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285547",
"gene_hgnc_id": null,
"hgvs_c": "c.839_843delCTCCAinsGT",
"hgvs_p": "p.Thr280_Pro281delinsSer",
"transcript": "ENST00000648922.1",
"protein_id": "ENSP00000497072.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 555,
"cds_start": 839,
"cds_end": null,
"cds_length": 1670,
"cdna_start": 925,
"cdna_end": null,
"cdna_length": 1752,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TP",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.839_843delCTCCAinsGT",
"hgvs_p": "p.Thr280_Pro281delinsSer",
"transcript": "ENST00000373568.7",
"protein_id": "ENSP00000362669.3",
"transcript_support_level": 5,
"aa_start": 280,
"aa_end": null,
"aa_length": 417,
"cds_start": 839,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 924,
"cdna_end": null,
"cdna_length": 1625,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TP",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.839_843delCTCCAinsGT",
"hgvs_p": "p.Thr280_Pro281delinsSer",
"transcript": "ENST00000648452.1",
"protein_id": "ENSP00000497268.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 414,
"cds_start": 839,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 947,
"cdna_end": null,
"cdna_length": 1865,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TP",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.839_843delCTCCAinsGT",
"hgvs_p": "p.Thr280_Pro281delinsSer",
"transcript": "NM_001410725.1",
"protein_id": "NP_001397654.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 403,
"cds_start": 839,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 925,
"cdna_end": null,
"cdna_length": 1832,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TP",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.839_843delCTCCAinsGT",
"hgvs_p": "p.Thr280_Pro281delinsSer",
"transcript": "ENST00000647886.1",
"protein_id": "ENSP00000497188.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 403,
"cds_start": 839,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 941,
"cdna_end": null,
"cdna_length": 1807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TP",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.833_837delCTCCAinsGT",
"hgvs_p": "p.Thr278_Pro279delinsSer",
"transcript": "ENST00000647980.1",
"protein_id": "ENSP00000498002.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 375,
"cds_start": 833,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 923,
"cdna_end": null,
"cdna_length": 1700,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TP",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.839_843delCTCCAinsGT",
"hgvs_p": "p.Thr280_Pro281delinsSer",
"transcript": "ENST00000647594.1",
"protein_id": "ENSP00000496814.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 373,
"cds_start": 839,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 947,
"cdna_end": null,
"cdna_length": 1785,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TP",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.839_843delCTCCAinsGT",
"hgvs_p": "p.Thr280_Pro281delinsSer",
"transcript": "ENST00000647859.1",
"protein_id": "ENSP00000497530.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 373,
"cds_start": 839,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 925,
"cdna_end": null,
"cdna_length": 2502,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TP",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.761_765delCTCCAinsGT",
"hgvs_p": "p.Thr254_Pro255delinsSer",
"transcript": "NM_001410727.1",
"protein_id": "NP_001397656.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 351,
"cds_start": 761,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 847,
"cdna_end": null,
"cdna_length": 1676,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TP",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.761_765delCTCCAinsGT",
"hgvs_p": "p.Thr254_Pro255delinsSer",
"transcript": "ENST00000373583.6",
"protein_id": "ENSP00000362685.2",
"transcript_support_level": 5,
"aa_start": 254,
"aa_end": null,
"aa_length": 351,
"cds_start": 761,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 881,
"cdna_end": null,
"cdna_length": 1710,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TP",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.839_843delCTCCAinsGT",
"hgvs_p": "p.Thr280_Pro281delinsSer",
"transcript": "ENST00000648298.1",
"protein_id": "ENSP00000496866.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 350,
"cds_start": 839,
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"cdna_start": 925,
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"cdna_length": 5689,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.839_843delCTCCAinsGT",
"hgvs_p": "p.Thr280_Pro281delinsSer",
"transcript": "ENST00000415409.6",
"protein_id": "ENSP00000396424.2",
"transcript_support_level": 5,
"aa_start": 280,
"aa_end": null,
"aa_length": 344,
"cds_start": 839,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 925,
"cdna_end": null,
"cdna_length": 1274,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TP",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.839_843delCTCCAinsGT",
"hgvs_p": "p.Thr280_Pro281delinsSer",
"transcript": "ENST00000648870.1",
"protein_id": "ENSP00000497599.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 337,
"cds_start": 839,
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"cdna_start": 938,
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"cdna_length": 4155,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TP",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.539_543delCTCCAinsGT",
"hgvs_p": "p.Thr180_Pro181delinsSer",
"transcript": "ENST00000648139.1",
"protein_id": "ENSP00000496818.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 317,
"cds_start": 539,
"cds_end": null,
"cds_length": 954,
"cdna_start": 598,
"cdna_end": null,
"cdna_length": 1220,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TP",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.566_570delCTCCAinsGT",
"hgvs_p": "p.Thr189_Pro190delinsSer",
"transcript": "NM_001410728.1",
"protein_id": "NP_001397657.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 312,
"cds_start": 566,
"cds_end": null,
"cds_length": 939,
"cdna_start": 652,
"cdna_end": null,
"cdna_length": 1559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.566_570delCTCCAinsGT",
"hgvs_p": "p.Thr189_Pro190delinsSer",
"transcript": "ENST00000647654.1",
"protein_id": "ENSP00000497568.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 312,
"cds_start": 566,
"cds_end": null,
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"cdna_start": 652,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TP",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.839_843delCTCCAinsGT",
"hgvs_p": "p.Thr280_Pro281delinsSer",
"transcript": "NM_001410729.1",
"protein_id": "NP_001397658.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 307,
"cds_start": 839,
"cds_end": null,
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"cdna_start": 925,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.566_570delCTCCAinsGT",
"hgvs_p": "p.Thr189_Pro190delinsSer",
"transcript": "NM_001166418.2",
"protein_id": "NP_001159890.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 286,
"cds_start": 566,
"cds_end": null,
"cds_length": 861,
"cdna_start": 652,
"cdna_end": null,
"cdna_length": 1481,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TP",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.566_570delCTCCAinsGT",
"hgvs_p": "p.Thr189_Pro190delinsSer",
"transcript": "ENST00000373589.9",
"protein_id": "ENSP00000362691.4",
"transcript_support_level": 2,
"aa_start": 189,
"aa_end": null,
"aa_length": 286,
"cds_start": 566,
"cds_end": null,
"cds_length": 861,
"cdna_start": 910,
"cdna_end": null,
"cdna_length": 1695,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TP",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
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"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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"cdna_length": 1941,
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"biotype": null,
"feature": null
},
{
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"protein_coding": false,
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"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",
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"hgvs_c": "n.*283_*287delCTCCAinsGT",
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"transcript": "ENST00000650471.1",
"protein_id": "ENSP00000498027.1",
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"aa_start": null,
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"aa_length": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 3,
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"gene_symbol": "HDAC8",
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"hgvs_c": "c.209+24303_209+24307delCTCCAinsGT",
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"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,
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"cdna_length": 971,
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"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": null,
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"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "n.*537_*541delCTCCAinsGT",
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"transcript": "ENST00000412342.6",
"protein_id": "ENSP00000400180.1",
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"aa_end": null,
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"cdna_length": 687,
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"biotype": null,
"feature": null
},
{
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"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 5,
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"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "n.-68_-64delCTCCAinsGT",
"hgvs_p": null,
"transcript": "ENST00000470998.2",
"protein_id": "ENSP00000497317.1",
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"aa_end": null,
"aa_length": null,
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"cds_end": null,
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"cdna_start": null,
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"cdna_length": 333,
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"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"dbsnp": "rs1057516037",
"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": 9.368,
"phylop100way_prediction": "Pathogenic",
"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": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PM4_Supporting,PP3,PP5_Moderate",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PM1",
"PM2",
"PM4_Supporting",
"PP3",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000373573.9",
"gene_symbol": "HDAC8",
"hgnc_id": 13315,
"effects": [
"missense_variant",
"disruptive_inframe_deletion"
],
"inheritance_mode": "XL,AD",
"hgvs_c": "c.839_843delCTCCAinsGT",
"hgvs_p": "p.Thr280_Pro281delinsSer"
},
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PM1",
"PM2",
"PM4_Supporting",
"PP3",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000648922.1",
"gene_symbol": "ENSG00000285547",
"hgnc_id": null,
"effects": [
"missense_variant",
"disruptive_inframe_deletion"
],
"inheritance_mode": "",
"hgvs_c": "c.839_843delCTCCAinsGT",
"hgvs_p": "p.Thr280_Pro281delinsSer"
}
],
"clinvar_disease": "Cornelia de Lange syndrome 5",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Cornelia de Lange syndrome 5",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}