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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: 17-44078636-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=44078636&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 44078636,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001015053.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC5",
"gene_hgnc_id": 14068,
"hgvs_c": "c.3193G>A",
"hgvs_p": "p.Ala1065Thr",
"transcript": "NM_005474.5",
"protein_id": "NP_005465.2",
"transcript_support_level": null,
"aa_start": 1065,
"aa_end": null,
"aa_length": 1122,
"cds_start": 3193,
"cds_end": null,
"cds_length": 3369,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000682912.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005474.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC5",
"gene_hgnc_id": 14068,
"hgvs_c": "c.3193G>A",
"hgvs_p": "p.Ala1065Thr",
"transcript": "ENST00000682912.1",
"protein_id": "ENSP00000507606.1",
"transcript_support_level": null,
"aa_start": 1065,
"aa_end": null,
"aa_length": 1122,
"cds_start": 3193,
"cds_end": null,
"cds_length": 3369,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005474.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682912.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC5",
"gene_hgnc_id": 14068,
"hgvs_c": "c.3193G>A",
"hgvs_p": "p.Ala1065Thr",
"transcript": "ENST00000586802.5",
"protein_id": "ENSP00000468004.1",
"transcript_support_level": 1,
"aa_start": 1065,
"aa_end": null,
"aa_length": 1122,
"cds_start": 3193,
"cds_end": null,
"cds_length": 3369,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000586802.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC5",
"gene_hgnc_id": 14068,
"hgvs_c": "c.2938G>A",
"hgvs_p": "p.Ala980Thr",
"transcript": "ENST00000336057.9",
"protein_id": "ENSP00000337290.4",
"transcript_support_level": 1,
"aa_start": 980,
"aa_end": null,
"aa_length": 1037,
"cds_start": 2938,
"cds_end": null,
"cds_length": 3114,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000336057.9"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC5",
"gene_hgnc_id": 14068,
"hgvs_c": "c.3307G>A",
"hgvs_p": "p.Ala1103Thr",
"transcript": "ENST00000864920.1",
"protein_id": "ENSP00000534979.1",
"transcript_support_level": null,
"aa_start": 1103,
"aa_end": null,
"aa_length": 1160,
"cds_start": 3307,
"cds_end": null,
"cds_length": 3483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864920.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC5",
"gene_hgnc_id": 14068,
"hgvs_c": "c.3211G>A",
"hgvs_p": "p.Ala1071Thr",
"transcript": "ENST00000864908.1",
"protein_id": "ENSP00000534967.1",
"transcript_support_level": null,
"aa_start": 1071,
"aa_end": null,
"aa_length": 1128,
"cds_start": 3211,
"cds_end": null,
"cds_length": 3387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864908.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC5",
"gene_hgnc_id": 14068,
"hgvs_c": "c.3208G>A",
"hgvs_p": "p.Ala1070Thr",
"transcript": "ENST00000864917.1",
"protein_id": "ENSP00000534976.1",
"transcript_support_level": null,
"aa_start": 1070,
"aa_end": null,
"aa_length": 1127,
"cds_start": 3208,
"cds_end": null,
"cds_length": 3384,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864917.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC5",
"gene_hgnc_id": 14068,
"hgvs_c": "c.3205G>A",
"hgvs_p": "p.Ala1069Thr",
"transcript": "ENST00000925831.1",
"protein_id": "ENSP00000595890.1",
"transcript_support_level": null,
"aa_start": 1069,
"aa_end": null,
"aa_length": 1126,
"cds_start": 3205,
"cds_end": null,
"cds_length": 3381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925831.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC5",
"gene_hgnc_id": 14068,
"hgvs_c": "c.3196G>A",
"hgvs_p": "p.Ala1066Thr",
"transcript": "NM_001015053.2",
"protein_id": "NP_001015053.1",
"transcript_support_level": null,
"aa_start": 1066,
"aa_end": null,
"aa_length": 1123,
"cds_start": 3196,
"cds_end": null,
"cds_length": 3372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001015053.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC5",
"gene_hgnc_id": 14068,
"hgvs_c": "c.3196G>A",
"hgvs_p": "p.Ala1066Thr",
"transcript": "ENST00000225983.10",
"protein_id": "ENSP00000225983.5",
"transcript_support_level": 5,
"aa_start": 1066,
"aa_end": null,
"aa_length": 1123,
"cds_start": 3196,
"cds_end": null,
"cds_length": 3372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000225983.10"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC5",
"gene_hgnc_id": 14068,
"hgvs_c": "c.3196G>A",
"hgvs_p": "p.Ala1066Thr",
"transcript": "ENST00000864902.1",
"protein_id": "ENSP00000534961.1",
"transcript_support_level": null,
"aa_start": 1066,
"aa_end": null,
"aa_length": 1123,
"cds_start": 3196,
"cds_end": null,
"cds_length": 3372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864902.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC5",
"gene_hgnc_id": 14068,
"hgvs_c": "c.3196G>A",
"hgvs_p": "p.Ala1066Thr",
"transcript": "ENST00000864918.1",
"protein_id": "ENSP00000534977.1",
"transcript_support_level": null,
"aa_start": 1066,
"aa_end": null,
"aa_length": 1123,
"cds_start": 3196,
"cds_end": null,
"cds_length": 3372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864918.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC5",
"gene_hgnc_id": 14068,
"hgvs_c": "c.3193G>A",
"hgvs_p": "p.Ala1065Thr",
"transcript": "NM_001382393.1",
"protein_id": "NP_001369322.1",
"transcript_support_level": null,
"aa_start": 1065,
"aa_end": null,
"aa_length": 1122,
"cds_start": 3193,
"cds_end": null,
"cds_length": 3369,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382393.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC5",
"gene_hgnc_id": 14068,
"hgvs_c": "c.3193G>A",
"hgvs_p": "p.Ala1065Thr",
"transcript": "ENST00000715273.1",
"protein_id": "ENSP00000520442.1",
"transcript_support_level": null,
"aa_start": 1065,
"aa_end": null,
"aa_length": 1122,
"cds_start": 3193,
"cds_end": null,
"cds_length": 3369,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000715273.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC5",
"gene_hgnc_id": 14068,
"hgvs_c": "c.3193G>A",
"hgvs_p": "p.Ala1065Thr",
"transcript": "ENST00000864905.1",
"protein_id": "ENSP00000534964.1",
"transcript_support_level": null,
"aa_start": 1065,
"aa_end": null,
"aa_length": 1122,
"cds_start": 3193,
"cds_end": null,
"cds_length": 3369,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864905.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC5",
"gene_hgnc_id": 14068,
"hgvs_c": "c.3190G>A",
"hgvs_p": "p.Ala1064Thr",
"transcript": "ENST00000864912.1",
"protein_id": "ENSP00000534971.1",
"transcript_support_level": null,
"aa_start": 1064,
"aa_end": null,
"aa_length": 1121,
"cds_start": 3190,
"cds_end": null,
"cds_length": 3366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864912.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC5",
"gene_hgnc_id": 14068,
"hgvs_c": "c.3190G>A",
"hgvs_p": "p.Ala1064Thr",
"transcript": "ENST00000864913.1",
"protein_id": "ENSP00000534972.1",
"transcript_support_level": null,
"aa_start": 1064,
"aa_end": null,
"aa_length": 1121,
"cds_start": 3190,
"cds_end": null,
"cds_length": 3366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864913.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC5",
"gene_hgnc_id": 14068,
"hgvs_c": "c.3190G>A",
"hgvs_p": "p.Ala1064Thr",
"transcript": "ENST00000968361.1",
"protein_id": "ENSP00000638420.1",
"transcript_support_level": null,
"aa_start": 1064,
"aa_end": null,
"aa_length": 1121,
"cds_start": 3190,
"cds_end": null,
"cds_length": 3366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968361.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC5",
"gene_hgnc_id": 14068,
"hgvs_c": "c.3190G>A",
"hgvs_p": "p.Ala1064Thr",
"transcript": "ENST00000968364.1",
"protein_id": "ENSP00000638423.1",
"transcript_support_level": null,
"aa_start": 1064,
"aa_end": null,
"aa_length": 1121,
"cds_start": 3190,
"cds_end": null,
"cds_length": 3366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968364.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC5",
"gene_hgnc_id": 14068,
"hgvs_c": "c.3187G>A",
"hgvs_p": "p.Ala1063Thr",
"transcript": "ENST00000925826.1",
"protein_id": "ENSP00000595885.1",
"transcript_support_level": null,
"aa_start": 1063,
"aa_end": null,
"aa_length": 1120,
"cds_start": 3187,
"cds_end": null,
"cds_length": 3363,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925826.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC5",
"gene_hgnc_id": 14068,
"hgvs_c": "c.3181G>A",
"hgvs_p": "p.Ala1061Thr",
"transcript": "ENST00000864900.1",
"protein_id": "ENSP00000534959.1",
"transcript_support_level": null,
"aa_start": 1061,
"aa_end": null,
"aa_length": 1118,
"cds_start": 3181,
"cds_end": null,
"cds_length": 3357,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864900.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC5",
"gene_hgnc_id": 14068,
"hgvs_c": "c.3181G>A",
"hgvs_p": "p.Ala1061Thr",
"transcript": "ENST00000864914.1",
"protein_id": "ENSP00000534973.1",
"transcript_support_level": null,
"aa_start": 1061,
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"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC5",
"gene_hgnc_id": 14068,
"hgvs_c": "c.3070G>A",
"hgvs_p": "p.Ala1024Thr",
"transcript": "XM_047435055.1",
"protein_id": "XP_047291011.1",
"transcript_support_level": null,
"aa_start": 1024,
"aa_end": null,
"aa_length": 1081,
"cds_start": 3070,
"cds_end": null,
"cds_length": 3246,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435055.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC5",
"gene_hgnc_id": 14068,
"hgvs_c": "c.3070G>A",
"hgvs_p": "p.Ala1024Thr",
"transcript": "XM_047435056.1",
"protein_id": "XP_047291012.1",
"transcript_support_level": null,
"aa_start": 1024,
"aa_end": null,
"aa_length": 1081,
"cds_start": 3070,
"cds_end": null,
"cds_length": 3246,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435056.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "G6PC3",
"gene_hgnc_id": 24861,
"hgvs_c": "c.678-1462C>T",
"hgvs_p": null,
"transcript": "ENST00000696405.1",
"protein_id": "ENSP00000512607.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 249,
"cds_start": null,
"cds_end": null,
"cds_length": 752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696405.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC5",
"gene_hgnc_id": 14068,
"hgvs_c": "n.437G>A",
"hgvs_p": null,
"transcript": "ENST00000586339.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000586339.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "G6PC3",
"gene_hgnc_id": 24861,
"hgvs_c": "n.*105+1305C>T",
"hgvs_p": null,
"transcript": "ENST00000696392.1",
"protein_id": "ENSP00000512602.1",
"transcript_support_level": null,
"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": "ENST00000696392.1"
}
],
"gene_symbol": "HDAC5",
"gene_hgnc_id": 14068,
"dbsnp": "rs376847963",
"frequency_reference_population": 0.00002739876,
"hom_count_reference_population": 0,
"allele_count_reference_population": 44,
"gnomad_exomes_af": 0.0000213256,
"gnomad_genomes_af": 0.0000853791,
"gnomad_exomes_ac": 31,
"gnomad_genomes_ac": 13,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.15084034204483032,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.082,
"revel_prediction": "Benign",
"alphamissense_score": 0.075,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.981,
"phylop100way_prediction": "Benign",
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001015053.2",
"gene_symbol": "HDAC5",
"hgnc_id": 14068,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.3196G>A",
"hgvs_p": "p.Ala1066Thr"
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000696405.1",
"gene_symbol": "G6PC3",
"hgnc_id": 24861,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.678-1462C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}