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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: 19-56222138-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=56222138&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 56222138,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_024303.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN5A",
"gene_hgnc_id": 23710,
"hgvs_c": "c.928G>A",
"hgvs_p": "p.Glu310Lys",
"transcript": "NM_001322064.3",
"protein_id": "NP_001308993.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 496,
"cds_start": 928,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000683990.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322064.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN5A",
"gene_hgnc_id": 23710,
"hgvs_c": "c.928G>A",
"hgvs_p": "p.Glu310Lys",
"transcript": "ENST00000683990.1",
"protein_id": "ENSP00000507065.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 496,
"cds_start": 928,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001322064.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683990.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN5A",
"gene_hgnc_id": 23710,
"hgvs_c": "c.928G>A",
"hgvs_p": "p.Glu310Lys",
"transcript": "ENST00000391713.5",
"protein_id": "ENSP00000375593.1",
"transcript_support_level": 1,
"aa_start": 310,
"aa_end": null,
"aa_length": 496,
"cds_start": 928,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000391713.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN5A",
"gene_hgnc_id": 23710,
"hgvs_c": "c.928G>A",
"hgvs_p": "p.Glu310Lys",
"transcript": "ENST00000587340.5",
"protein_id": "ENSP00000467631.1",
"transcript_support_level": 1,
"aa_start": 310,
"aa_end": null,
"aa_length": 496,
"cds_start": 928,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000587340.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN5A",
"gene_hgnc_id": 23710,
"hgvs_c": "c.928G>A",
"hgvs_p": "p.Glu310Lys",
"transcript": "NM_001322065.3",
"protein_id": "NP_001308994.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 496,
"cds_start": 928,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322065.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN5A",
"gene_hgnc_id": 23710,
"hgvs_c": "c.928G>A",
"hgvs_p": "p.Glu310Lys",
"transcript": "NM_001322066.2",
"protein_id": "NP_001308995.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 496,
"cds_start": 928,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322066.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN5A",
"gene_hgnc_id": 23710,
"hgvs_c": "c.928G>A",
"hgvs_p": "p.Glu310Lys",
"transcript": "NM_001322067.2",
"protein_id": "NP_001308996.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 496,
"cds_start": 928,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322067.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN5A",
"gene_hgnc_id": 23710,
"hgvs_c": "c.928G>A",
"hgvs_p": "p.Glu310Lys",
"transcript": "NM_001322068.2",
"protein_id": "NP_001308997.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 496,
"cds_start": 928,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322068.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN5A",
"gene_hgnc_id": 23710,
"hgvs_c": "c.928G>A",
"hgvs_p": "p.Glu310Lys",
"transcript": "NM_001322070.2",
"protein_id": "NP_001308999.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 496,
"cds_start": 928,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322070.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN5A",
"gene_hgnc_id": 23710,
"hgvs_c": "c.928G>A",
"hgvs_p": "p.Glu310Lys",
"transcript": "NM_001322072.3",
"protein_id": "NP_001309001.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 496,
"cds_start": 928,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322072.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN5A",
"gene_hgnc_id": 23710,
"hgvs_c": "c.928G>A",
"hgvs_p": "p.Glu310Lys",
"transcript": "NM_001387853.1",
"protein_id": "NP_001374782.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 496,
"cds_start": 928,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387853.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN5A",
"gene_hgnc_id": 23710,
"hgvs_c": "c.928G>A",
"hgvs_p": "p.Glu310Lys",
"transcript": "NM_001387857.1",
"protein_id": "NP_001374786.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 496,
"cds_start": 928,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387857.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN5A",
"gene_hgnc_id": 23710,
"hgvs_c": "c.928G>A",
"hgvs_p": "p.Glu310Lys",
"transcript": "NM_001387859.1",
"protein_id": "NP_001374788.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 496,
"cds_start": 928,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387859.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN5A",
"gene_hgnc_id": 23710,
"hgvs_c": "c.928G>A",
"hgvs_p": "p.Glu310Lys",
"transcript": "NM_024303.4",
"protein_id": "NP_077279.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 496,
"cds_start": 928,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024303.4"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN5A",
"gene_hgnc_id": 23710,
"hgvs_c": "c.928G>A",
"hgvs_p": "p.Glu310Lys",
"transcript": "ENST00000891613.1",
"protein_id": "ENSP00000561672.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 496,
"cds_start": 928,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891613.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN5A",
"gene_hgnc_id": 23710,
"hgvs_c": "c.928G>A",
"hgvs_p": "p.Glu310Lys",
"transcript": "ENST00000891614.1",
"protein_id": "ENSP00000561673.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 496,
"cds_start": 928,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891614.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN5A",
"gene_hgnc_id": 23710,
"hgvs_c": "c.928G>A",
"hgvs_p": "p.Glu310Lys",
"transcript": "ENST00000891616.1",
"protein_id": "ENSP00000561675.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 496,
"cds_start": 928,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891616.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN5A",
"gene_hgnc_id": 23710,
"hgvs_c": "c.928G>A",
"hgvs_p": "p.Glu310Lys",
"transcript": "ENST00000928141.1",
"protein_id": "ENSP00000598200.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 496,
"cds_start": 928,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928141.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN5A",
"gene_hgnc_id": 23710,
"hgvs_c": "c.928G>A",
"hgvs_p": "p.Glu310Lys",
"transcript": "ENST00000928142.1",
"protein_id": "ENSP00000598201.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 496,
"cds_start": 928,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928142.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN5A",
"gene_hgnc_id": 23710,
"hgvs_c": "c.928G>A",
"hgvs_p": "p.Glu310Lys",
"transcript": "ENST00000928143.1",
"protein_id": "ENSP00000598202.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 496,
"cds_start": 928,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928143.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN5A",
"gene_hgnc_id": 23710,
"hgvs_c": "c.928G>A",
"hgvs_p": "p.Glu310Lys",
"transcript": "ENST00000928144.1",
"protein_id": "ENSP00000598203.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 496,
"cds_start": 928,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928144.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN5A",
"gene_hgnc_id": 23710,
"hgvs_c": "c.928G>A",
"hgvs_p": "p.Glu310Lys",
"transcript": "ENST00000948524.1",
"protein_id": "ENSP00000618583.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 496,
"cds_start": 928,
"cds_end": null,
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"aa_end": null,
"aa_length": 379,
"cds_start": 577,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322077.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN5A",
"gene_hgnc_id": 23710,
"hgvs_c": "c.538G>A",
"hgvs_p": "p.Glu180Lys",
"transcript": "NM_001322078.3",
"protein_id": "NP_001309007.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 366,
"cds_start": 538,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322078.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN5A",
"gene_hgnc_id": 23710,
"hgvs_c": "c.490G>A",
"hgvs_p": "p.Glu164Lys",
"transcript": "ENST00000587492.5",
"protein_id": "ENSP00000466445.1",
"transcript_support_level": 2,
"aa_start": 164,
"aa_end": null,
"aa_length": 350,
"cds_start": 490,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000587492.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN5A",
"gene_hgnc_id": 23710,
"hgvs_c": "c.490G>A",
"hgvs_p": "p.Glu164Lys",
"transcript": "ENST00000593106.5",
"protein_id": "ENSP00000464936.1",
"transcript_support_level": 5,
"aa_start": 164,
"aa_end": null,
"aa_length": 189,
"cds_start": 490,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000593106.5"
}
],
"gene_symbol": "ZSCAN5A",
"gene_hgnc_id": 23710,
"dbsnp": "rs773158381",
"frequency_reference_population": 0.0000075245575,
"hom_count_reference_population": 0,
"allele_count_reference_population": 11,
"gnomad_exomes_af": 0.00000752456,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 11,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.054844558238983154,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.025,
"revel_prediction": "Benign",
"alphamissense_score": 0.1635,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.72,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.429,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_024303.4",
"gene_symbol": "ZSCAN5A",
"hgnc_id": 23710,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.928G>A",
"hgvs_p": "p.Glu310Lys"
}
],
"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
}