← 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: 2-196201386-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=196201386&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 196201386,
"ref": "G",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_020760.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECW2",
"gene_hgnc_id": 29853,
"hgvs_c": "c.4610C>T",
"hgvs_p": "p.Ala1537Val",
"transcript": "NM_001348768.2",
"protein_id": "NP_001335697.1",
"transcript_support_level": null,
"aa_start": 1537,
"aa_end": null,
"aa_length": 1572,
"cds_start": 4610,
"cds_end": null,
"cds_length": 4719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000644978.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348768.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECW2",
"gene_hgnc_id": 29853,
"hgvs_c": "c.4610C>T",
"hgvs_p": "p.Ala1537Val",
"transcript": "ENST00000644978.2",
"protein_id": "ENSP00000495418.1",
"transcript_support_level": null,
"aa_start": 1537,
"aa_end": null,
"aa_length": 1572,
"cds_start": 4610,
"cds_end": null,
"cds_length": 4719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001348768.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644978.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECW2",
"gene_hgnc_id": 29853,
"hgvs_c": "c.4610C>T",
"hgvs_p": "p.Ala1537Val",
"transcript": "ENST00000260983.8",
"protein_id": "ENSP00000260983.2",
"transcript_support_level": 1,
"aa_start": 1537,
"aa_end": null,
"aa_length": 1572,
"cds_start": 4610,
"cds_end": null,
"cds_length": 4719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000260983.8"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECW2",
"gene_hgnc_id": 29853,
"hgvs_c": "c.4631C>T",
"hgvs_p": "p.Ala1544Val",
"transcript": "ENST00000644030.1",
"protein_id": "ENSP00000495504.1",
"transcript_support_level": null,
"aa_start": 1544,
"aa_end": null,
"aa_length": 1579,
"cds_start": 4631,
"cds_end": null,
"cds_length": 4740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644030.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECW2",
"gene_hgnc_id": 29853,
"hgvs_c": "c.4631C>T",
"hgvs_p": "p.Ala1544Val",
"transcript": "ENST00000867916.1",
"protein_id": "ENSP00000537975.1",
"transcript_support_level": null,
"aa_start": 1544,
"aa_end": null,
"aa_length": 1579,
"cds_start": 4631,
"cds_end": null,
"cds_length": 4740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867916.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECW2",
"gene_hgnc_id": 29853,
"hgvs_c": "c.4610C>T",
"hgvs_p": "p.Ala1537Val",
"transcript": "NM_020760.4",
"protein_id": "NP_065811.1",
"transcript_support_level": null,
"aa_start": 1537,
"aa_end": null,
"aa_length": 1572,
"cds_start": 4610,
"cds_end": null,
"cds_length": 4719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020760.4"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECW2",
"gene_hgnc_id": 29853,
"hgvs_c": "c.4610C>T",
"hgvs_p": "p.Ala1537Val",
"transcript": "ENST00000644256.1",
"protein_id": "ENSP00000494649.1",
"transcript_support_level": null,
"aa_start": 1537,
"aa_end": null,
"aa_length": 1572,
"cds_start": 4610,
"cds_end": null,
"cds_length": 4719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644256.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECW2",
"gene_hgnc_id": 29853,
"hgvs_c": "c.4610C>T",
"hgvs_p": "p.Ala1537Val",
"transcript": "ENST00000931760.1",
"protein_id": "ENSP00000601819.1",
"transcript_support_level": null,
"aa_start": 1537,
"aa_end": null,
"aa_length": 1572,
"cds_start": 4610,
"cds_end": null,
"cds_length": 4719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931760.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECW2",
"gene_hgnc_id": 29853,
"hgvs_c": "c.4475C>T",
"hgvs_p": "p.Ala1492Val",
"transcript": "ENST00000956008.1",
"protein_id": "ENSP00000626067.1",
"transcript_support_level": null,
"aa_start": 1492,
"aa_end": null,
"aa_length": 1527,
"cds_start": 4475,
"cds_end": null,
"cds_length": 4584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956008.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECW2",
"gene_hgnc_id": 29853,
"hgvs_c": "c.4358C>T",
"hgvs_p": "p.Ala1453Val",
"transcript": "ENST00000956007.1",
"protein_id": "ENSP00000626066.1",
"transcript_support_level": null,
"aa_start": 1453,
"aa_end": null,
"aa_length": 1488,
"cds_start": 4358,
"cds_end": null,
"cds_length": 4467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956007.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECW2",
"gene_hgnc_id": 29853,
"hgvs_c": "c.3542C>T",
"hgvs_p": "p.Ala1181Val",
"transcript": "NM_001304840.3",
"protein_id": "NP_001291769.1",
"transcript_support_level": null,
"aa_start": 1181,
"aa_end": null,
"aa_length": 1216,
"cds_start": 3542,
"cds_end": null,
"cds_length": 3651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001304840.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECW2",
"gene_hgnc_id": 29853,
"hgvs_c": "c.2333C>T",
"hgvs_p": "p.Ala778Val",
"transcript": "ENST00000644421.1",
"protein_id": "ENSP00000495351.1",
"transcript_support_level": null,
"aa_start": 778,
"aa_end": null,
"aa_length": 813,
"cds_start": 2333,
"cds_end": null,
"cds_length": 2442,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644421.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECW2",
"gene_hgnc_id": 29853,
"hgvs_c": "c.4631C>T",
"hgvs_p": "p.Ala1544Val",
"transcript": "XM_006712646.4",
"protein_id": "XP_006712709.1",
"transcript_support_level": null,
"aa_start": 1544,
"aa_end": null,
"aa_length": 1579,
"cds_start": 4631,
"cds_end": null,
"cds_length": 4740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006712646.4"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECW2",
"gene_hgnc_id": 29853,
"hgvs_c": "c.4631C>T",
"hgvs_p": "p.Ala1544Val",
"transcript": "XM_024453020.2",
"protein_id": "XP_024308788.1",
"transcript_support_level": null,
"aa_start": 1544,
"aa_end": null,
"aa_length": 1579,
"cds_start": 4631,
"cds_end": null,
"cds_length": 4740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453020.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECW2",
"gene_hgnc_id": 29853,
"hgvs_c": "c.4631C>T",
"hgvs_p": "p.Ala1544Val",
"transcript": "XM_024453021.2",
"protein_id": "XP_024308789.1",
"transcript_support_level": null,
"aa_start": 1544,
"aa_end": null,
"aa_length": 1579,
"cds_start": 4631,
"cds_end": null,
"cds_length": 4740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453021.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECW2",
"gene_hgnc_id": 29853,
"hgvs_c": "c.4631C>T",
"hgvs_p": "p.Ala1544Val",
"transcript": "XM_047445194.1",
"protein_id": "XP_047301150.1",
"transcript_support_level": null,
"aa_start": 1544,
"aa_end": null,
"aa_length": 1579,
"cds_start": 4631,
"cds_end": null,
"cds_length": 4740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445194.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECW2",
"gene_hgnc_id": 29853,
"hgvs_c": "c.4631C>T",
"hgvs_p": "p.Ala1544Val",
"transcript": "XM_047445195.1",
"protein_id": "XP_047301151.1",
"transcript_support_level": null,
"aa_start": 1544,
"aa_end": null,
"aa_length": 1579,
"cds_start": 4631,
"cds_end": null,
"cds_length": 4740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445195.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECW2",
"gene_hgnc_id": 29853,
"hgvs_c": "c.4610C>T",
"hgvs_p": "p.Ala1537Val",
"transcript": "XM_047445196.1",
"protein_id": "XP_047301152.1",
"transcript_support_level": null,
"aa_start": 1537,
"aa_end": null,
"aa_length": 1572,
"cds_start": 4610,
"cds_end": null,
"cds_length": 4719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445196.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECW2",
"gene_hgnc_id": 29853,
"hgvs_c": "c.4610C>T",
"hgvs_p": "p.Ala1537Val",
"transcript": "XM_047445197.1",
"protein_id": "XP_047301153.1",
"transcript_support_level": null,
"aa_start": 1537,
"aa_end": null,
"aa_length": 1572,
"cds_start": 4610,
"cds_end": null,
"cds_length": 4719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445197.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECW2",
"gene_hgnc_id": 29853,
"hgvs_c": "c.4610C>T",
"hgvs_p": "p.Ala1537Val",
"transcript": "XM_047445198.1",
"protein_id": "XP_047301154.1",
"transcript_support_level": null,
"aa_start": 1537,
"aa_end": null,
"aa_length": 1572,
"cds_start": 4610,
"cds_end": null,
"cds_length": 4719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445198.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECW2",
"gene_hgnc_id": 29853,
"hgvs_c": "c.4238C>T",
"hgvs_p": "p.Ala1413Val",
"transcript": "XM_006712648.5",
"protein_id": "XP_006712711.1",
"transcript_support_level": null,
"aa_start": 1413,
"aa_end": null,
"aa_length": 1448,
"cds_start": 4238,
"cds_end": null,
"cds_length": 4347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006712648.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECW2",
"gene_hgnc_id": 29853,
"hgvs_c": "n.1368C>T",
"hgvs_p": null,
"transcript": "ENST00000642318.1",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000642318.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECW2",
"gene_hgnc_id": 29853,
"hgvs_c": "n.*3796C>T",
"hgvs_p": null,
"transcript": "ENST00000647236.1",
"protein_id": "ENSP00000494800.1",
"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": "ENST00000647236.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECW2",
"gene_hgnc_id": 29853,
"hgvs_c": "n.*3796C>T",
"hgvs_p": null,
"transcript": "ENST00000647236.1",
"protein_id": "ENSP00000494800.1",
"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": "ENST00000647236.1"
}
],
"gene_symbol": "HECW2",
"gene_hgnc_id": 29853,
"dbsnp": "rs560792476",
"frequency_reference_population": 0.000047275913,
"hom_count_reference_population": 0,
"allele_count_reference_population": 76,
"gnomad_exomes_af": 0.000049471,
"gnomad_genomes_af": 0.0000262836,
"gnomad_exomes_ac": 72,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8807116746902466,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07999999821186066,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.52,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9972,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.27,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 10.003,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.08,
"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": "PP3_Moderate,BP6_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PP3_Moderate",
"BP6_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_020760.4",
"gene_symbol": "HECW2",
"hgnc_id": 29853,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.4610C>T",
"hgvs_p": "p.Ala1537Val"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}