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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: 5-90485683-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=90485683&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 90485683,
"ref": "C",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_006467.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3G",
"gene_hgnc_id": 30075,
"hgvs_c": "c.116C>T",
"hgvs_p": "p.Pro39Leu",
"transcript": "NM_006467.3",
"protein_id": "NP_006458.2",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 223,
"cds_start": 116,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000651687.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006467.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3G",
"gene_hgnc_id": 30075,
"hgvs_c": "c.116C>T",
"hgvs_p": "p.Pro39Leu",
"transcript": "ENST00000651687.1",
"protein_id": "ENSP00000498469.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 223,
"cds_start": 116,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006467.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651687.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3G",
"gene_hgnc_id": 30075,
"hgvs_c": "c.116C>T",
"hgvs_p": "p.Pro39Leu",
"transcript": "NM_001370351.1",
"protein_id": "NP_001357280.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 223,
"cds_start": 116,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370351.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3G",
"gene_hgnc_id": 30075,
"hgvs_c": "c.116C>T",
"hgvs_p": "p.Pro39Leu",
"transcript": "NM_001370354.1",
"protein_id": "NP_001357283.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 223,
"cds_start": 116,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370354.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3G",
"gene_hgnc_id": 30075,
"hgvs_c": "c.116C>T",
"hgvs_p": "p.Pro39Leu",
"transcript": "ENST00000504930.5",
"protein_id": "ENSP00000421637.1",
"transcript_support_level": 2,
"aa_start": 39,
"aa_end": null,
"aa_length": 223,
"cds_start": 116,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000504930.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3G",
"gene_hgnc_id": 30075,
"hgvs_c": "c.116C>T",
"hgvs_p": "p.Pro39Leu",
"transcript": "ENST00000859024.1",
"protein_id": "ENSP00000529083.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 223,
"cds_start": 116,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859024.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3G",
"gene_hgnc_id": 30075,
"hgvs_c": "c.116C>T",
"hgvs_p": "p.Pro39Leu",
"transcript": "ENST00000859027.1",
"protein_id": "ENSP00000529086.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 223,
"cds_start": 116,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859027.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3G",
"gene_hgnc_id": 30075,
"hgvs_c": "c.116C>T",
"hgvs_p": "p.Pro39Leu",
"transcript": "ENST00000859028.1",
"protein_id": "ENSP00000529087.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 223,
"cds_start": 116,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859028.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3G",
"gene_hgnc_id": 30075,
"hgvs_c": "c.116C>T",
"hgvs_p": "p.Pro39Leu",
"transcript": "ENST00000859029.1",
"protein_id": "ENSP00000529088.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 223,
"cds_start": 116,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859029.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3G",
"gene_hgnc_id": 30075,
"hgvs_c": "c.116C>T",
"hgvs_p": "p.Pro39Leu",
"transcript": "ENST00000912712.1",
"protein_id": "ENSP00000582771.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 223,
"cds_start": 116,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912712.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3G",
"gene_hgnc_id": 30075,
"hgvs_c": "c.116C>T",
"hgvs_p": "p.Pro39Leu",
"transcript": "ENST00000912713.1",
"protein_id": "ENSP00000582772.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 223,
"cds_start": 116,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912713.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3G",
"gene_hgnc_id": 30075,
"hgvs_c": "c.116C>T",
"hgvs_p": "p.Pro39Leu",
"transcript": "ENST00000912714.1",
"protein_id": "ENSP00000582773.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 223,
"cds_start": 116,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912714.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3G",
"gene_hgnc_id": 30075,
"hgvs_c": "c.116C>T",
"hgvs_p": "p.Pro39Leu",
"transcript": "ENST00000912717.1",
"protein_id": "ENSP00000582776.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 223,
"cds_start": 116,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912717.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3G",
"gene_hgnc_id": 30075,
"hgvs_c": "c.116C>T",
"hgvs_p": "p.Pro39Leu",
"transcript": "ENST00000912720.1",
"protein_id": "ENSP00000582779.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 223,
"cds_start": 116,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912720.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3G",
"gene_hgnc_id": 30075,
"hgvs_c": "c.116C>T",
"hgvs_p": "p.Pro39Leu",
"transcript": "ENST00000912721.1",
"protein_id": "ENSP00000582780.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 223,
"cds_start": 116,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912721.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3G",
"gene_hgnc_id": 30075,
"hgvs_c": "c.116C>T",
"hgvs_p": "p.Pro39Leu",
"transcript": "ENST00000912722.1",
"protein_id": "ENSP00000582781.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 223,
"cds_start": 116,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912722.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3G",
"gene_hgnc_id": 30075,
"hgvs_c": "c.116C>T",
"hgvs_p": "p.Pro39Leu",
"transcript": "ENST00000912729.1",
"protein_id": "ENSP00000582788.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 223,
"cds_start": 116,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912729.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3G",
"gene_hgnc_id": 30075,
"hgvs_c": "c.116C>T",
"hgvs_p": "p.Pro39Leu",
"transcript": "ENST00000912730.1",
"protein_id": "ENSP00000582789.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 223,
"cds_start": 116,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912730.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3G",
"gene_hgnc_id": 30075,
"hgvs_c": "c.116C>T",
"hgvs_p": "p.Pro39Leu",
"transcript": "ENST00000912732.1",
"protein_id": "ENSP00000582791.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 223,
"cds_start": 116,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912732.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3G",
"gene_hgnc_id": 30075,
"hgvs_c": "c.116C>T",
"hgvs_p": "p.Pro39Leu",
"transcript": "ENST00000959308.1",
"protein_id": "ENSP00000629367.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 223,
"cds_start": 116,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959308.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3G",
"gene_hgnc_id": 30075,
"hgvs_c": "c.116C>T",
"hgvs_p": "p.Pro39Leu",
"transcript": "NM_001370352.1",
"protein_id": "NP_001357281.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 222,
"cds_start": 116,
"cds_end": null,
"cds_length": 669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370352.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
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"protein_id": "XP_047272592.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 151,
"cds_start": 116,
"cds_end": null,
"cds_length": 456,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416636.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3G",
"gene_hgnc_id": 30075,
"hgvs_c": "c.116C>T",
"hgvs_p": "p.Pro39Leu",
"transcript": "XM_047416637.1",
"protein_id": "XP_047272593.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 150,
"cds_start": 116,
"cds_end": null,
"cds_length": 453,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416637.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3G",
"gene_hgnc_id": 30075,
"hgvs_c": "n.116C>T",
"hgvs_p": null,
"transcript": "ENST00000399107.6",
"protein_id": "ENSP00000382058.2",
"transcript_support_level": 2,
"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": "ENST00000399107.6"
}
],
"gene_symbol": "POLR3G",
"gene_hgnc_id": 30075,
"dbsnp": "rs202063059",
"frequency_reference_population": 0.00019904012,
"hom_count_reference_population": 0,
"allele_count_reference_population": 319,
"gnomad_exomes_af": 0.000214413,
"gnomad_genomes_af": 0.0000525548,
"gnomad_exomes_ac": 311,
"gnomad_genomes_ac": 8,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.844239354133606,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.9200000166893005,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.542,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.6009,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.44,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.62,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.05,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.991246449439132,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 0,
"pathogenic_score": 1,
"criteria": [
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_006467.3",
"gene_symbol": "POLR3G",
"hgnc_id": 30075,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.116C>T",
"hgvs_p": "p.Pro39Leu"
}
],
"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
}