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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: 5-132203819-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=132203819&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 132203819,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_004199.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HA2",
"gene_hgnc_id": 8547,
"hgvs_c": "c.1180G>A",
"hgvs_p": "p.Val394Ile",
"transcript": "NM_001365677.2",
"protein_id": "NP_001352606.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 535,
"cds_start": 1180,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": "ENST00000379104.7",
"biotype": "protein_coding",
"feature": "NM_001365677.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HA2",
"gene_hgnc_id": 8547,
"hgvs_c": "c.1180G>A",
"hgvs_p": "p.Val394Ile",
"transcript": "ENST00000379104.7",
"protein_id": "ENSP00000368398.2",
"transcript_support_level": 1,
"aa_start": 394,
"aa_end": null,
"aa_length": 535,
"cds_start": 1180,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": "NM_001365677.2",
"biotype": "protein_coding",
"feature": "ENST00000379104.7"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HA2",
"gene_hgnc_id": 8547,
"hgvs_c": "c.1180G>A",
"hgvs_p": "p.Val394Ile",
"transcript": "NM_001017974.2",
"protein_id": "NP_001017974.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 533,
"cds_start": 1180,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000360568.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001017974.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HA2",
"gene_hgnc_id": 8547,
"hgvs_c": "c.1180G>A",
"hgvs_p": "p.Val394Ile",
"transcript": "ENST00000360568.8",
"protein_id": "ENSP00000353772.3",
"transcript_support_level": 1,
"aa_start": 394,
"aa_end": null,
"aa_length": 533,
"cds_start": 1180,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001017974.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360568.8"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HA2",
"gene_hgnc_id": 8547,
"hgvs_c": "c.1180G>A",
"hgvs_p": "p.Val394Ile",
"transcript": "ENST00000166534.8",
"protein_id": "ENSP00000166534.4",
"transcript_support_level": 1,
"aa_start": 394,
"aa_end": null,
"aa_length": 535,
"cds_start": 1180,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000166534.8"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HA2",
"gene_hgnc_id": 8547,
"hgvs_c": "c.1180G>A",
"hgvs_p": "p.Val394Ile",
"transcript": "NM_001142599.2",
"protein_id": "NP_001136071.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 535,
"cds_start": 1180,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142599.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HA2",
"gene_hgnc_id": 8547,
"hgvs_c": "c.1180G>A",
"hgvs_p": "p.Val394Ile",
"transcript": "NM_004199.3",
"protein_id": "NP_004190.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 535,
"cds_start": 1180,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004199.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HA2",
"gene_hgnc_id": 8547,
"hgvs_c": "c.1180G>A",
"hgvs_p": "p.Val394Ile",
"transcript": "ENST00000401867.5",
"protein_id": "ENSP00000384999.1",
"transcript_support_level": 5,
"aa_start": 394,
"aa_end": null,
"aa_length": 535,
"cds_start": 1180,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000401867.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HA2",
"gene_hgnc_id": 8547,
"hgvs_c": "c.1180G>A",
"hgvs_p": "p.Val394Ile",
"transcript": "ENST00000889327.1",
"protein_id": "ENSP00000559386.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 535,
"cds_start": 1180,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889327.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HA2",
"gene_hgnc_id": 8547,
"hgvs_c": "c.1180G>A",
"hgvs_p": "p.Val394Ile",
"transcript": "ENST00000889328.1",
"protein_id": "ENSP00000559387.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 535,
"cds_start": 1180,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889328.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HA2",
"gene_hgnc_id": 8547,
"hgvs_c": "c.1180G>A",
"hgvs_p": "p.Val394Ile",
"transcript": "ENST00000889329.1",
"protein_id": "ENSP00000559388.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 535,
"cds_start": 1180,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889329.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HA2",
"gene_hgnc_id": 8547,
"hgvs_c": "c.1180G>A",
"hgvs_p": "p.Val394Ile",
"transcript": "ENST00000889331.1",
"protein_id": "ENSP00000559390.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 535,
"cds_start": 1180,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889331.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HA2",
"gene_hgnc_id": 8547,
"hgvs_c": "c.1180G>A",
"hgvs_p": "p.Val394Ile",
"transcript": "ENST00000889336.1",
"protein_id": "ENSP00000559395.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 535,
"cds_start": 1180,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889336.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HA2",
"gene_hgnc_id": 8547,
"hgvs_c": "c.1180G>A",
"hgvs_p": "p.Val394Ile",
"transcript": "ENST00000889339.1",
"protein_id": "ENSP00000559398.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 535,
"cds_start": 1180,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889339.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HA2",
"gene_hgnc_id": 8547,
"hgvs_c": "c.1180G>A",
"hgvs_p": "p.Val394Ile",
"transcript": "ENST00000889342.1",
"protein_id": "ENSP00000559401.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 535,
"cds_start": 1180,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889342.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HA2",
"gene_hgnc_id": 8547,
"hgvs_c": "c.1180G>A",
"hgvs_p": "p.Val394Ile",
"transcript": "ENST00000889349.1",
"protein_id": "ENSP00000559408.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 535,
"cds_start": 1180,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889349.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HA2",
"gene_hgnc_id": 8547,
"hgvs_c": "c.1180G>A",
"hgvs_p": "p.Val394Ile",
"transcript": "ENST00000889350.1",
"protein_id": "ENSP00000559409.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 535,
"cds_start": 1180,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889350.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HA2",
"gene_hgnc_id": 8547,
"hgvs_c": "c.1180G>A",
"hgvs_p": "p.Val394Ile",
"transcript": "ENST00000889353.1",
"protein_id": "ENSP00000559412.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 535,
"cds_start": 1180,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889353.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HA2",
"gene_hgnc_id": 8547,
"hgvs_c": "c.1180G>A",
"hgvs_p": "p.Val394Ile",
"transcript": "ENST00000889355.1",
"protein_id": "ENSP00000559414.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 535,
"cds_start": 1180,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889355.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HA2",
"gene_hgnc_id": 8547,
"hgvs_c": "c.1180G>A",
"hgvs_p": "p.Val394Ile",
"transcript": "ENST00000944793.1",
"protein_id": "ENSP00000614852.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 535,
"cds_start": 1180,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944793.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HA2",
"gene_hgnc_id": 8547,
"hgvs_c": "c.1180G>A",
"hgvs_p": "p.Val394Ile",
"transcript": "ENST00000944795.1",
"protein_id": "ENSP00000614854.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 535,
"cds_start": 1180,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944795.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HA2",
"gene_hgnc_id": 8547,
"hgvs_c": "c.1180G>A",
"hgvs_p": "p.Val394Ile",
"transcript": "ENST00000944801.1",
"protein_id": "ENSP00000614860.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 535,
"cds_start": 1180,
"cds_end": null,
"cds_length": 1608,
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"protein_id": "NP_001352610.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 474,
"cds_start": 1003,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365681.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HA2",
"gene_hgnc_id": 8547,
"hgvs_c": "c.802G>A",
"hgvs_p": "p.Val268Ile",
"transcript": "ENST00000944798.1",
"protein_id": "ENSP00000614857.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 407,
"cds_start": 802,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944798.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HA2",
"gene_hgnc_id": 8547,
"hgvs_c": "c.*740G>A",
"hgvs_p": null,
"transcript": "ENST00000428369.6",
"protein_id": "ENSP00000396495.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 145,
"cds_start": null,
"cds_end": null,
"cds_length": 440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000428369.6"
}
],
"gene_symbol": "P4HA2",
"gene_hgnc_id": 8547,
"dbsnp": "rs754355833",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.20301216840744019,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.041,
"revel_prediction": "Benign",
"alphamissense_score": 0.0807,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.45,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.504,
"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_004199.3",
"gene_symbol": "P4HA2",
"hgnc_id": 8547,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown,AD",
"hgvs_c": "c.1180G>A",
"hgvs_p": "p.Val394Ile"
}
],
"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
}