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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: 14-64522776-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=64522776&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 64522776,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001123329.2",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1272G>C",
"hgvs_p": "p.Glu424Asp",
"transcript": "NM_001123329.2",
"protein_id": "NP_001116801.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 713,
"cds_start": 1272,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000683701.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001123329.2"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1272G>C",
"hgvs_p": "p.Glu424Asp",
"transcript": "ENST00000683701.1",
"protein_id": "ENSP00000506911.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 713,
"cds_start": 1272,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001123329.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683701.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"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": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1272G>C",
"hgvs_p": "p.Glu424Asp",
"transcript": "ENST00000554015.5",
"protein_id": "ENSP00000451000.1",
"transcript_support_level": 1,
"aa_start": 424,
"aa_end": null,
"aa_length": 713,
"cds_start": 1272,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000554015.5"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1272G>C",
"hgvs_p": "p.Glu424Asp",
"transcript": "ENST00000358738.3",
"protein_id": "ENSP00000351587.3",
"transcript_support_level": 1,
"aa_start": 424,
"aa_end": null,
"aa_length": 644,
"cds_start": 1272,
"cds_end": null,
"cds_length": 1935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358738.3"
},
{
"aa_ref": "E",
"aa_alt": "D",
"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": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1272G>C",
"hgvs_p": "p.Glu424Asp",
"transcript": "NM_001438534.1",
"protein_id": "NP_001425463.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 713,
"cds_start": 1272,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438534.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1272G>C",
"hgvs_p": "p.Glu424Asp",
"transcript": "ENST00000865017.1",
"protein_id": "ENSP00000535076.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 713,
"cds_start": 1272,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865017.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"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": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1272G>C",
"hgvs_p": "p.Glu424Asp",
"transcript": "ENST00000865018.1",
"protein_id": "ENSP00000535077.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 713,
"cds_start": 1272,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865018.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1272G>C",
"hgvs_p": "p.Glu424Asp",
"transcript": "ENST00000865019.1",
"protein_id": "ENSP00000535078.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 713,
"cds_start": 1272,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865019.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1272G>C",
"hgvs_p": "p.Glu424Asp",
"transcript": "ENST00000865020.1",
"protein_id": "ENSP00000535079.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 713,
"cds_start": 1272,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865020.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"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": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1272G>C",
"hgvs_p": "p.Glu424Asp",
"transcript": "ENST00000865021.1",
"protein_id": "ENSP00000535080.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 713,
"cds_start": 1272,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865021.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1272G>C",
"hgvs_p": "p.Glu424Asp",
"transcript": "ENST00000865022.1",
"protein_id": "ENSP00000535081.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 713,
"cds_start": 1272,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865022.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"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": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1272G>C",
"hgvs_p": "p.Glu424Asp",
"transcript": "ENST00000865023.1",
"protein_id": "ENSP00000535082.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 713,
"cds_start": 1272,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865023.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1272G>C",
"hgvs_p": "p.Glu424Asp",
"transcript": "ENST00000865024.1",
"protein_id": "ENSP00000535083.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 713,
"cds_start": 1272,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865024.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1272G>C",
"hgvs_p": "p.Glu424Asp",
"transcript": "ENST00000865025.1",
"protein_id": "ENSP00000535084.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 713,
"cds_start": 1272,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865025.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"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": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1272G>C",
"hgvs_p": "p.Glu424Asp",
"transcript": "ENST00000865026.1",
"protein_id": "ENSP00000535085.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 713,
"cds_start": 1272,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865026.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"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": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1272G>C",
"hgvs_p": "p.Glu424Asp",
"transcript": "ENST00000865027.1",
"protein_id": "ENSP00000535086.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 713,
"cds_start": 1272,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865027.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"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": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1272G>C",
"hgvs_p": "p.Glu424Asp",
"transcript": "ENST00000865028.1",
"protein_id": "ENSP00000535087.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 713,
"cds_start": 1272,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865028.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"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": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1272G>C",
"hgvs_p": "p.Glu424Asp",
"transcript": "ENST00000865029.1",
"protein_id": "ENSP00000535088.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 713,
"cds_start": 1272,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865029.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1272G>C",
"hgvs_p": "p.Glu424Asp",
"transcript": "ENST00000865030.1",
"protein_id": "ENSP00000535089.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 713,
"cds_start": 1272,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865030.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"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": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1272G>C",
"hgvs_p": "p.Glu424Asp",
"transcript": "ENST00000865031.1",
"protein_id": "ENSP00000535090.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 713,
"cds_start": 1272,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865031.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"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": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1272G>C",
"hgvs_p": "p.Glu424Asp",
"transcript": "ENST00000865032.1",
"protein_id": "ENSP00000535091.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 713,
"cds_start": 1272,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865032.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"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": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1272G>C",
"hgvs_p": "p.Glu424Asp",
"transcript": "ENST00000865033.1",
"protein_id": "ENSP00000535092.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 713,
"cds_start": 1272,
"cds_end": null,
"cds_length": 2142,
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"hgvs_c": "n.150-4238C>G",
"hgvs_p": null,
"transcript": "ENST00000846147.1",
"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": "pseudogene",
"feature": "ENST00000846147.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HSPA2-AS1",
"gene_hgnc_id": 55433,
"hgvs_c": "n.140-4238C>G",
"hgvs_p": null,
"transcript": "ENST00000846148.1",
"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": "pseudogene",
"feature": "ENST00000846148.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HSPA2-AS1",
"gene_hgnc_id": 55433,
"hgvs_c": "n.90-4238C>G",
"hgvs_p": null,
"transcript": "ENST00000846149.1",
"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": "pseudogene",
"feature": "ENST00000846149.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HSPA2-AS1",
"gene_hgnc_id": 55433,
"hgvs_c": "n.149-4238C>G",
"hgvs_p": null,
"transcript": "NR_110550.1",
"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": "pseudogene",
"feature": "NR_110550.1"
}
],
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"dbsnp": "rs776630155",
"frequency_reference_population": 0.0000043367604,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000410435,
"gnomad_genomes_af": 0.00000656832,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3642309308052063,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.111,
"revel_prediction": "Benign",
"alphamissense_score": 0.4916,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.33,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.554,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001123329.2",
"gene_symbol": "ZBTB1",
"hgnc_id": 20259,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1272G>C",
"hgvs_p": "p.Glu424Asp"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000554918.1",
"gene_symbol": "HSPA2-AS1",
"hgnc_id": 55433,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.149-4238C>G",
"hgvs_p": null
}
],
"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
}