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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: 2-36988718-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=36988718&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 36988718,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_019024.3",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEATR5B",
"gene_hgnc_id": 29273,
"hgvs_c": "c.5839A>G",
"hgvs_p": "p.Ile1947Val",
"transcript": "NM_019024.3",
"protein_id": "NP_061897.1",
"transcript_support_level": null,
"aa_start": 1947,
"aa_end": null,
"aa_length": 2071,
"cds_start": 5839,
"cds_end": null,
"cds_length": 6216,
"cdna_start": 5965,
"cdna_end": null,
"cdna_length": 6937,
"mane_select": "ENST00000233099.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_019024.3"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEATR5B",
"gene_hgnc_id": 29273,
"hgvs_c": "c.5839A>G",
"hgvs_p": "p.Ile1947Val",
"transcript": "ENST00000233099.6",
"protein_id": "ENSP00000233099.5",
"transcript_support_level": 1,
"aa_start": 1947,
"aa_end": null,
"aa_length": 2071,
"cds_start": 5839,
"cds_end": null,
"cds_length": 6216,
"cdna_start": 5965,
"cdna_end": null,
"cdna_length": 6937,
"mane_select": "NM_019024.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000233099.6"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEATR5B",
"gene_hgnc_id": 29273,
"hgvs_c": "c.5839A>G",
"hgvs_p": "p.Ile1947Val",
"transcript": "ENST00000903982.1",
"protein_id": "ENSP00000574041.1",
"transcript_support_level": null,
"aa_start": 1947,
"aa_end": null,
"aa_length": 2071,
"cds_start": 5839,
"cds_end": null,
"cds_length": 6216,
"cdna_start": 6405,
"cdna_end": null,
"cdna_length": 7257,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903982.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEATR5B",
"gene_hgnc_id": 29273,
"hgvs_c": "c.5839A>G",
"hgvs_p": "p.Ile1947Val",
"transcript": "ENST00000920714.1",
"protein_id": "ENSP00000590773.1",
"transcript_support_level": null,
"aa_start": 1947,
"aa_end": null,
"aa_length": 2071,
"cds_start": 5839,
"cds_end": null,
"cds_length": 6216,
"cdna_start": 5942,
"cdna_end": null,
"cdna_length": 6810,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920714.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEATR5B",
"gene_hgnc_id": 29273,
"hgvs_c": "c.5839A>G",
"hgvs_p": "p.Ile1947Val",
"transcript": "ENST00000920715.1",
"protein_id": "ENSP00000590774.1",
"transcript_support_level": null,
"aa_start": 1947,
"aa_end": null,
"aa_length": 2071,
"cds_start": 5839,
"cds_end": null,
"cds_length": 6216,
"cdna_start": 6001,
"cdna_end": null,
"cdna_length": 6856,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920715.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEATR5B",
"gene_hgnc_id": 29273,
"hgvs_c": "c.5839A>G",
"hgvs_p": "p.Ile1947Val",
"transcript": "ENST00000920718.1",
"protein_id": "ENSP00000590777.1",
"transcript_support_level": null,
"aa_start": 1947,
"aa_end": null,
"aa_length": 2071,
"cds_start": 5839,
"cds_end": null,
"cds_length": 6216,
"cdna_start": 6288,
"cdna_end": null,
"cdna_length": 7139,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920718.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEATR5B",
"gene_hgnc_id": 29273,
"hgvs_c": "c.5836A>G",
"hgvs_p": "p.Ile1946Val",
"transcript": "ENST00000903978.1",
"protein_id": "ENSP00000574037.1",
"transcript_support_level": null,
"aa_start": 1946,
"aa_end": null,
"aa_length": 2070,
"cds_start": 5836,
"cds_end": null,
"cds_length": 6213,
"cdna_start": 5988,
"cdna_end": null,
"cdna_length": 7006,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903978.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEATR5B",
"gene_hgnc_id": 29273,
"hgvs_c": "c.5836A>G",
"hgvs_p": "p.Ile1946Val",
"transcript": "ENST00000903979.1",
"protein_id": "ENSP00000574038.1",
"transcript_support_level": null,
"aa_start": 1946,
"aa_end": null,
"aa_length": 2070,
"cds_start": 5836,
"cds_end": null,
"cds_length": 6213,
"cdna_start": 5932,
"cdna_end": null,
"cdna_length": 6902,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903979.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEATR5B",
"gene_hgnc_id": 29273,
"hgvs_c": "c.5803A>G",
"hgvs_p": "p.Ile1935Val",
"transcript": "ENST00000903977.1",
"protein_id": "ENSP00000574036.1",
"transcript_support_level": null,
"aa_start": 1935,
"aa_end": null,
"aa_length": 2059,
"cds_start": 5803,
"cds_end": null,
"cds_length": 6180,
"cdna_start": 5907,
"cdna_end": null,
"cdna_length": 7301,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903977.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEATR5B",
"gene_hgnc_id": 29273,
"hgvs_c": "c.5746A>G",
"hgvs_p": "p.Ile1916Val",
"transcript": "ENST00000903981.1",
"protein_id": "ENSP00000574040.1",
"transcript_support_level": null,
"aa_start": 1916,
"aa_end": null,
"aa_length": 2040,
"cds_start": 5746,
"cds_end": null,
"cds_length": 6123,
"cdna_start": 5846,
"cdna_end": null,
"cdna_length": 6702,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903981.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEATR5B",
"gene_hgnc_id": 29273,
"hgvs_c": "c.5584A>G",
"hgvs_p": "p.Ile1862Val",
"transcript": "ENST00000920717.1",
"protein_id": "ENSP00000590776.1",
"transcript_support_level": null,
"aa_start": 1862,
"aa_end": null,
"aa_length": 1986,
"cds_start": 5584,
"cds_end": null,
"cds_length": 5961,
"cdna_start": 5681,
"cdna_end": null,
"cdna_length": 6538,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920717.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEATR5B",
"gene_hgnc_id": 29273,
"hgvs_c": "c.5572A>G",
"hgvs_p": "p.Ile1858Val",
"transcript": "ENST00000903980.1",
"protein_id": "ENSP00000574039.1",
"transcript_support_level": null,
"aa_start": 1858,
"aa_end": null,
"aa_length": 1982,
"cds_start": 5572,
"cds_end": null,
"cds_length": 5949,
"cdna_start": 5674,
"cdna_end": null,
"cdna_length": 6534,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903980.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEATR5B",
"gene_hgnc_id": 29273,
"hgvs_c": "c.5509A>G",
"hgvs_p": "p.Ile1837Val",
"transcript": "ENST00000920713.1",
"protein_id": "ENSP00000590772.1",
"transcript_support_level": null,
"aa_start": 1837,
"aa_end": null,
"aa_length": 1961,
"cds_start": 5509,
"cds_end": null,
"cds_length": 5886,
"cdna_start": 5630,
"cdna_end": null,
"cdna_length": 6498,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920713.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEATR5B",
"gene_hgnc_id": 29273,
"hgvs_c": "c.5509A>G",
"hgvs_p": "p.Ile1837Val",
"transcript": "ENST00000920716.1",
"protein_id": "ENSP00000590775.1",
"transcript_support_level": null,
"aa_start": 1837,
"aa_end": null,
"aa_length": 1961,
"cds_start": 5509,
"cds_end": null,
"cds_length": 5886,
"cdna_start": 6075,
"cdna_end": null,
"cdna_length": 6935,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920716.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEATR5B",
"gene_hgnc_id": 29273,
"hgvs_c": "c.5479A>G",
"hgvs_p": "p.Ile1827Val",
"transcript": "ENST00000950344.1",
"protein_id": "ENSP00000620403.1",
"transcript_support_level": null,
"aa_start": 1827,
"aa_end": null,
"aa_length": 1951,
"cds_start": 5479,
"cds_end": null,
"cds_length": 5856,
"cdna_start": 5608,
"cdna_end": null,
"cdna_length": 6465,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950344.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEATR5B",
"gene_hgnc_id": 29273,
"hgvs_c": "c.142A>G",
"hgvs_p": "p.Ile48Val",
"transcript": "ENST00000425467.5",
"protein_id": "ENSP00000408222.1",
"transcript_support_level": 3,
"aa_start": 48,
"aa_end": null,
"aa_length": 115,
"cds_start": 142,
"cds_end": null,
"cds_length": 348,
"cdna_start": 142,
"cdna_end": null,
"cdna_length": 433,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000425467.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEATR5B",
"gene_hgnc_id": 29273,
"hgvs_c": "c.5836A>G",
"hgvs_p": "p.Ile1946Val",
"transcript": "XM_006712034.3",
"protein_id": "XP_006712097.1",
"transcript_support_level": null,
"aa_start": 1946,
"aa_end": null,
"aa_length": 2070,
"cds_start": 5836,
"cds_end": null,
"cds_length": 6213,
"cdna_start": 5962,
"cdna_end": null,
"cdna_length": 6934,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006712034.3"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEATR5B",
"gene_hgnc_id": 29273,
"hgvs_c": "c.5803A>G",
"hgvs_p": "p.Ile1935Val",
"transcript": "XM_006712035.5",
"protein_id": "XP_006712098.1",
"transcript_support_level": null,
"aa_start": 1935,
"aa_end": null,
"aa_length": 2059,
"cds_start": 5803,
"cds_end": null,
"cds_length": 6180,
"cdna_start": 5929,
"cdna_end": null,
"cdna_length": 6901,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006712035.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEATR5B",
"gene_hgnc_id": 29273,
"hgvs_c": "c.5800A>G",
"hgvs_p": "p.Ile1934Val",
"transcript": "XM_047444810.1",
"protein_id": "XP_047300766.1",
"transcript_support_level": null,
"aa_start": 1934,
"aa_end": null,
"aa_length": 2058,
"cds_start": 5800,
"cds_end": null,
"cds_length": 6177,
"cdna_start": 5926,
"cdna_end": null,
"cdna_length": 6898,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444810.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEATR5B",
"gene_hgnc_id": 29273,
"hgvs_c": "c.5572A>G",
"hgvs_p": "p.Ile1858Val",
"transcript": "XM_017004378.2",
"protein_id": "XP_016859867.1",
"transcript_support_level": null,
"aa_start": 1858,
"aa_end": null,
"aa_length": 1982,
"cds_start": 5572,
"cds_end": null,
"cds_length": 5949,
"cdna_start": 5698,
"cdna_end": null,
"cdna_length": 6670,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017004378.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEATR5B",
"gene_hgnc_id": 29273,
"hgvs_c": "c.5569A>G",
"hgvs_p": "p.Ile1857Val",
"transcript": "XM_047444811.1",
"protein_id": "XP_047300767.1",
"transcript_support_level": null,
"aa_start": 1857,
"aa_end": null,
"aa_length": 1981,
"cds_start": 5569,
"cds_end": null,
"cds_length": 5946,
"cdna_start": 5695,
"cdna_end": null,
"cdna_length": 6667,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444811.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEATR5B",
"gene_hgnc_id": 29273,
"hgvs_c": "c.5536A>G",
"hgvs_p": "p.Ile1846Val",
"transcript": "XM_047444812.1",
"protein_id": "XP_047300768.1",
"transcript_support_level": null,
"aa_start": 1846,
"aa_end": null,
"aa_length": 1970,
"cds_start": 5536,
"cds_end": null,
"cds_length": 5913,
"cdna_start": 5662,
"cdna_end": null,
"cdna_length": 6634,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444812.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEATR5B",
"gene_hgnc_id": 29273,
"hgvs_c": "c.5464A>G",
"hgvs_p": "p.Ile1822Val",
"transcript": "XM_047444814.1",
"protein_id": "XP_047300770.1",
"transcript_support_level": null,
"aa_start": 1822,
"aa_end": null,
"aa_length": 1946,
"cds_start": 5464,
"cds_end": null,
"cds_length": 5841,
"cdna_start": 5959,
"cdna_end": null,
"cdna_length": 6931,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444814.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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": "HEATR5B",
"gene_hgnc_id": 29273,
"hgvs_c": "c.3988A>G",
"hgvs_p": "p.Ile1330Val",
"transcript": "XM_011532935.4",
"protein_id": "XP_011531237.1",
"transcript_support_level": null,
"aa_start": 1330,
"aa_end": null,
"aa_length": 1454,
"cds_start": 3988,
"cds_end": null,
"cds_length": 4365,
"cdna_start": 4077,
"cdna_end": null,
"cdna_length": 5049,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532935.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEATR5B",
"gene_hgnc_id": 29273,
"hgvs_c": "c.*41A>G",
"hgvs_p": null,
"transcript": "XM_047444813.1",
"protein_id": "XP_047300769.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1881,
"cds_start": null,
"cds_end": null,
"cds_length": 5646,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5885,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444813.1"
}
],
"gene_symbol": "HEATR5B",
"gene_hgnc_id": 29273,
"dbsnp": "rs567847253",
"frequency_reference_population": 0.00007557933,
"hom_count_reference_population": 1,
"allele_count_reference_population": 122,
"gnomad_exomes_af": 0.0000772994,
"gnomad_genomes_af": 0.0000590745,
"gnomad_exomes_ac": 113,
"gnomad_genomes_ac": 9,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.009647399187088013,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.086,
"revel_prediction": "Benign",
"alphamissense_score": 0.056,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.71,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.759,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_019024.3",
"gene_symbol": "HEATR5B",
"hgnc_id": 29273,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.5839A>G",
"hgvs_p": "p.Ile1947Val"
}
],
"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
}