← Back to variant description
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: 2-36988670-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=36988670&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 36988670,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_019024.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"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.5887G>A",
"hgvs_p": "p.Val1963Ile",
"transcript": "NM_019024.3",
"protein_id": "NP_061897.1",
"transcript_support_level": null,
"aa_start": 1963,
"aa_end": null,
"aa_length": 2071,
"cds_start": 5887,
"cds_end": null,
"cds_length": 6216,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000233099.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_019024.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"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.5887G>A",
"hgvs_p": "p.Val1963Ile",
"transcript": "ENST00000233099.6",
"protein_id": "ENSP00000233099.5",
"transcript_support_level": 1,
"aa_start": 1963,
"aa_end": null,
"aa_length": 2071,
"cds_start": 5887,
"cds_end": null,
"cds_length": 6216,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_019024.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000233099.6"
},
{
"aa_ref": "V",
"aa_alt": "I",
"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.5887G>A",
"hgvs_p": "p.Val1963Ile",
"transcript": "ENST00000903982.1",
"protein_id": "ENSP00000574041.1",
"transcript_support_level": null,
"aa_start": 1963,
"aa_end": null,
"aa_length": 2071,
"cds_start": 5887,
"cds_end": null,
"cds_length": 6216,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903982.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"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.5887G>A",
"hgvs_p": "p.Val1963Ile",
"transcript": "ENST00000920714.1",
"protein_id": "ENSP00000590773.1",
"transcript_support_level": null,
"aa_start": 1963,
"aa_end": null,
"aa_length": 2071,
"cds_start": 5887,
"cds_end": null,
"cds_length": 6216,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920714.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"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.5887G>A",
"hgvs_p": "p.Val1963Ile",
"transcript": "ENST00000920715.1",
"protein_id": "ENSP00000590774.1",
"transcript_support_level": null,
"aa_start": 1963,
"aa_end": null,
"aa_length": 2071,
"cds_start": 5887,
"cds_end": null,
"cds_length": 6216,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920715.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"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.5887G>A",
"hgvs_p": "p.Val1963Ile",
"transcript": "ENST00000920718.1",
"protein_id": "ENSP00000590777.1",
"transcript_support_level": null,
"aa_start": 1963,
"aa_end": null,
"aa_length": 2071,
"cds_start": 5887,
"cds_end": null,
"cds_length": 6216,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920718.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"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.5884G>A",
"hgvs_p": "p.Val1962Ile",
"transcript": "ENST00000903978.1",
"protein_id": "ENSP00000574037.1",
"transcript_support_level": null,
"aa_start": 1962,
"aa_end": null,
"aa_length": 2070,
"cds_start": 5884,
"cds_end": null,
"cds_length": 6213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903978.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"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.5884G>A",
"hgvs_p": "p.Val1962Ile",
"transcript": "ENST00000903979.1",
"protein_id": "ENSP00000574038.1",
"transcript_support_level": null,
"aa_start": 1962,
"aa_end": null,
"aa_length": 2070,
"cds_start": 5884,
"cds_end": null,
"cds_length": 6213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903979.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"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.5851G>A",
"hgvs_p": "p.Val1951Ile",
"transcript": "ENST00000903977.1",
"protein_id": "ENSP00000574036.1",
"transcript_support_level": null,
"aa_start": 1951,
"aa_end": null,
"aa_length": 2059,
"cds_start": 5851,
"cds_end": null,
"cds_length": 6180,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903977.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"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.5794G>A",
"hgvs_p": "p.Val1932Ile",
"transcript": "ENST00000903981.1",
"protein_id": "ENSP00000574040.1",
"transcript_support_level": null,
"aa_start": 1932,
"aa_end": null,
"aa_length": 2040,
"cds_start": 5794,
"cds_end": null,
"cds_length": 6123,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903981.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"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.5632G>A",
"hgvs_p": "p.Val1878Ile",
"transcript": "ENST00000920717.1",
"protein_id": "ENSP00000590776.1",
"transcript_support_level": null,
"aa_start": 1878,
"aa_end": null,
"aa_length": 1986,
"cds_start": 5632,
"cds_end": null,
"cds_length": 5961,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920717.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"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.5620G>A",
"hgvs_p": "p.Val1874Ile",
"transcript": "ENST00000903980.1",
"protein_id": "ENSP00000574039.1",
"transcript_support_level": null,
"aa_start": 1874,
"aa_end": null,
"aa_length": 1982,
"cds_start": 5620,
"cds_end": null,
"cds_length": 5949,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903980.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"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.5557G>A",
"hgvs_p": "p.Val1853Ile",
"transcript": "ENST00000920713.1",
"protein_id": "ENSP00000590772.1",
"transcript_support_level": null,
"aa_start": 1853,
"aa_end": null,
"aa_length": 1961,
"cds_start": 5557,
"cds_end": null,
"cds_length": 5886,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920713.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"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.5557G>A",
"hgvs_p": "p.Val1853Ile",
"transcript": "ENST00000920716.1",
"protein_id": "ENSP00000590775.1",
"transcript_support_level": null,
"aa_start": 1853,
"aa_end": null,
"aa_length": 1961,
"cds_start": 5557,
"cds_end": null,
"cds_length": 5886,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920716.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"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.5527G>A",
"hgvs_p": "p.Val1843Ile",
"transcript": "ENST00000950344.1",
"protein_id": "ENSP00000620403.1",
"transcript_support_level": null,
"aa_start": 1843,
"aa_end": null,
"aa_length": 1951,
"cds_start": 5527,
"cds_end": null,
"cds_length": 5856,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950344.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"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.190G>A",
"hgvs_p": "p.Val64Ile",
"transcript": "ENST00000425467.5",
"protein_id": "ENSP00000408222.1",
"transcript_support_level": 3,
"aa_start": 64,
"aa_end": null,
"aa_length": 115,
"cds_start": 190,
"cds_end": null,
"cds_length": 348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000425467.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"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.5884G>A",
"hgvs_p": "p.Val1962Ile",
"transcript": "XM_006712034.3",
"protein_id": "XP_006712097.1",
"transcript_support_level": null,
"aa_start": 1962,
"aa_end": null,
"aa_length": 2070,
"cds_start": 5884,
"cds_end": null,
"cds_length": 6213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006712034.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"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.5851G>A",
"hgvs_p": "p.Val1951Ile",
"transcript": "XM_006712035.5",
"protein_id": "XP_006712098.1",
"transcript_support_level": null,
"aa_start": 1951,
"aa_end": null,
"aa_length": 2059,
"cds_start": 5851,
"cds_end": null,
"cds_length": 6180,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006712035.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"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.5848G>A",
"hgvs_p": "p.Val1950Ile",
"transcript": "XM_047444810.1",
"protein_id": "XP_047300766.1",
"transcript_support_level": null,
"aa_start": 1950,
"aa_end": null,
"aa_length": 2058,
"cds_start": 5848,
"cds_end": null,
"cds_length": 6177,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444810.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"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.5620G>A",
"hgvs_p": "p.Val1874Ile",
"transcript": "XM_017004378.2",
"protein_id": "XP_016859867.1",
"transcript_support_level": null,
"aa_start": 1874,
"aa_end": null,
"aa_length": 1982,
"cds_start": 5620,
"cds_end": null,
"cds_length": 5949,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017004378.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"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.5617G>A",
"hgvs_p": "p.Val1873Ile",
"transcript": "XM_047444811.1",
"protein_id": "XP_047300767.1",
"transcript_support_level": null,
"aa_start": 1873,
"aa_end": null,
"aa_length": 1981,
"cds_start": 5617,
"cds_end": null,
"cds_length": 5946,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444811.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"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.5584G>A",
"hgvs_p": "p.Val1862Ile",
"transcript": "XM_047444812.1",
"protein_id": "XP_047300768.1",
"transcript_support_level": null,
"aa_start": 1862,
"aa_end": null,
"aa_length": 1970,
"cds_start": 5584,
"cds_end": null,
"cds_length": 5913,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444812.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"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.5512G>A",
"hgvs_p": "p.Val1838Ile",
"transcript": "XM_047444814.1",
"protein_id": "XP_047300770.1",
"transcript_support_level": null,
"aa_start": 1838,
"aa_end": null,
"aa_length": 1946,
"cds_start": 5512,
"cds_end": null,
"cds_length": 5841,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444814.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"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.4036G>A",
"hgvs_p": "p.Val1346Ile",
"transcript": "XM_011532935.4",
"protein_id": "XP_011531237.1",
"transcript_support_level": null,
"aa_start": 1346,
"aa_end": null,
"aa_length": 1454,
"cds_start": 4036,
"cds_end": null,
"cds_length": 4365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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.*89G>A",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444813.1"
}
],
"gene_symbol": "HEATR5B",
"gene_hgnc_id": 29273,
"dbsnp": "rs1363118267",
"frequency_reference_population": 0.000003098308,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000273671,
"gnomad_genomes_af": 0.00000657134,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.25398021936416626,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.173,
"revel_prediction": "Benign",
"alphamissense_score": 0.2118,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.33,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.658,
"phylop100way_prediction": "Pathogenic",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_019024.3",
"gene_symbol": "HEATR5B",
"hgnc_id": 29273,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.5887G>A",
"hgvs_p": "p.Val1963Ile"
}
],
"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
}