← 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: 3-179333719-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=179333719&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 179333719,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_016331.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF639",
"gene_hgnc_id": 30950,
"hgvs_c": "c.755C>T",
"hgvs_p": "p.Ala252Val",
"transcript": "NM_001303426.2",
"protein_id": "NP_001290355.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 485,
"cds_start": 755,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000496856.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001303426.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF639",
"gene_hgnc_id": 30950,
"hgvs_c": "c.755C>T",
"hgvs_p": "p.Ala252Val",
"transcript": "ENST00000496856.6",
"protein_id": "ENSP00000417740.1",
"transcript_support_level": 1,
"aa_start": 252,
"aa_end": null,
"aa_length": 485,
"cds_start": 755,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001303426.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000496856.6"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF639",
"gene_hgnc_id": 30950,
"hgvs_c": "c.755C>T",
"hgvs_p": "p.Ala252Val",
"transcript": "ENST00000326361.7",
"protein_id": "ENSP00000325634.3",
"transcript_support_level": 1,
"aa_start": 252,
"aa_end": null,
"aa_length": 485,
"cds_start": 755,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000326361.7"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF639",
"gene_hgnc_id": 30950,
"hgvs_c": "c.755C>T",
"hgvs_p": "p.Ala252Val",
"transcript": "ENST00000621687.1",
"protein_id": "ENSP00000477626.1",
"transcript_support_level": 1,
"aa_start": 252,
"aa_end": null,
"aa_length": 485,
"cds_start": 755,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000621687.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF639",
"gene_hgnc_id": 30950,
"hgvs_c": "c.755C>T",
"hgvs_p": "p.Ala252Val",
"transcript": "ENST00000466264.5",
"protein_id": "ENSP00000419650.1",
"transcript_support_level": 1,
"aa_start": 252,
"aa_end": null,
"aa_length": 287,
"cds_start": 755,
"cds_end": null,
"cds_length": 865,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000466264.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF639",
"gene_hgnc_id": 30950,
"hgvs_c": "c.773C>T",
"hgvs_p": "p.Ala258Val",
"transcript": "ENST00000908082.1",
"protein_id": "ENSP00000578141.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 491,
"cds_start": 773,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908082.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF639",
"gene_hgnc_id": 30950,
"hgvs_c": "c.773C>T",
"hgvs_p": "p.Ala258Val",
"transcript": "ENST00000908084.1",
"protein_id": "ENSP00000578143.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 491,
"cds_start": 773,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908084.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF639",
"gene_hgnc_id": 30950,
"hgvs_c": "c.755C>T",
"hgvs_p": "p.Ala252Val",
"transcript": "NM_001303425.2",
"protein_id": "NP_001290354.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 485,
"cds_start": 755,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001303425.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF639",
"gene_hgnc_id": 30950,
"hgvs_c": "c.755C>T",
"hgvs_p": "p.Ala252Val",
"transcript": "NM_001375800.1",
"protein_id": "NP_001362729.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 485,
"cds_start": 755,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375800.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF639",
"gene_hgnc_id": 30950,
"hgvs_c": "c.755C>T",
"hgvs_p": "p.Ala252Val",
"transcript": "NM_001375802.1",
"protein_id": "NP_001362731.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 485,
"cds_start": 755,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375802.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF639",
"gene_hgnc_id": 30950,
"hgvs_c": "c.755C>T",
"hgvs_p": "p.Ala252Val",
"transcript": "NM_001375803.1",
"protein_id": "NP_001362732.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 485,
"cds_start": 755,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375803.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF639",
"gene_hgnc_id": 30950,
"hgvs_c": "c.755C>T",
"hgvs_p": "p.Ala252Val",
"transcript": "NM_001375804.1",
"protein_id": "NP_001362733.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 485,
"cds_start": 755,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375804.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF639",
"gene_hgnc_id": 30950,
"hgvs_c": "c.755C>T",
"hgvs_p": "p.Ala252Val",
"transcript": "NM_001375805.1",
"protein_id": "NP_001362734.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 485,
"cds_start": 755,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375805.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF639",
"gene_hgnc_id": 30950,
"hgvs_c": "c.755C>T",
"hgvs_p": "p.Ala252Val",
"transcript": "NM_001375806.1",
"protein_id": "NP_001362735.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 485,
"cds_start": 755,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375806.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF639",
"gene_hgnc_id": 30950,
"hgvs_c": "c.755C>T",
"hgvs_p": "p.Ala252Val",
"transcript": "NM_001375807.1",
"protein_id": "NP_001362736.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 485,
"cds_start": 755,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375807.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF639",
"gene_hgnc_id": 30950,
"hgvs_c": "c.755C>T",
"hgvs_p": "p.Ala252Val",
"transcript": "NM_016331.3",
"protein_id": "NP_057415.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 485,
"cds_start": 755,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016331.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF639",
"gene_hgnc_id": 30950,
"hgvs_c": "c.755C>T",
"hgvs_p": "p.Ala252Val",
"transcript": "ENST00000484866.5",
"protein_id": "ENSP00000418766.1",
"transcript_support_level": 2,
"aa_start": 252,
"aa_end": null,
"aa_length": 485,
"cds_start": 755,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000484866.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF639",
"gene_hgnc_id": 30950,
"hgvs_c": "c.644C>T",
"hgvs_p": "p.Ala215Val",
"transcript": "ENST00000908083.1",
"protein_id": "ENSP00000578142.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 448,
"cds_start": 644,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908083.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF639",
"gene_hgnc_id": 30950,
"hgvs_c": "c.644C>T",
"hgvs_p": "p.Ala215Val",
"transcript": "ENST00000908085.1",
"protein_id": "ENSP00000578144.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 448,
"cds_start": 644,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908085.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF639",
"gene_hgnc_id": 30950,
"hgvs_c": "c.620C>T",
"hgvs_p": "p.Ala207Val",
"transcript": "ENST00000971543.1",
"protein_id": "ENSP00000641602.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 440,
"cds_start": 620,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971543.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF639",
"gene_hgnc_id": 30950,
"hgvs_c": "c.755C>T",
"hgvs_p": "p.Ala252Val",
"transcript": "XM_017006550.2",
"protein_id": "XP_016862039.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 485,
"cds_start": 755,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017006550.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF639",
"gene_hgnc_id": 30950,
"hgvs_c": "c.755C>T",
"hgvs_p": "p.Ala252Val",
"transcript": "XM_017006553.2",
"protein_id": "XP_016862042.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 485,
"cds_start": 755,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017006553.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF639",
"gene_hgnc_id": 30950,
"hgvs_c": "c.755C>T",
"hgvs_p": "p.Ala252Val",
"transcript": "XM_047448257.1",
"protein_id": "XP_047304213.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 485,
"cds_start": 755,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448257.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF639",
"gene_hgnc_id": 30950,
"hgvs_c": "c.755C>T",
"hgvs_p": "p.Ala252Val",
"transcript": "XM_047448258.1",
"protein_id": "XP_047304214.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 485,
"cds_start": 755,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448258.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF639",
"gene_hgnc_id": 30950,
"hgvs_c": "n.803C>T",
"hgvs_p": null,
"transcript": "ENST00000466663.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "pseudogene",
"feature": "ENST00000466663.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF639",
"gene_hgnc_id": 30950,
"hgvs_c": "c.*106C>T",
"hgvs_p": null,
"transcript": "ENST00000491818.5",
"protein_id": "ENSP00000418870.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 215,
"cds_start": null,
"cds_end": null,
"cds_length": 649,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000491818.5"
}
],
"gene_symbol": "ZNF639",
"gene_hgnc_id": 30950,
"dbsnp": "rs145622829",
"frequency_reference_population": 0.000004336997,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000205221,
"gnomad_genomes_af": 0.0000262847,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.11932957172393799,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.109,
"revel_prediction": "Benign",
"alphamissense_score": 0.0994,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.48,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.735,
"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": 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_016331.3",
"gene_symbol": "ZNF639",
"hgnc_id": 30950,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.755C>T",
"hgvs_p": "p.Ala252Val"
}
],
"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
}