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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: 15-84604154-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=84604154&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 84604154,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_181877.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "E",
"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": "ZSCAN2",
"gene_hgnc_id": 20994,
"hgvs_c": "c.227C>A",
"hgvs_p": "p.Ala76Glu",
"transcript": "NM_181877.4",
"protein_id": "NP_870992.2",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 614,
"cds_start": 227,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000546148.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_181877.4"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": true,
"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": "ZSCAN2",
"gene_hgnc_id": 20994,
"hgvs_c": "c.227C>A",
"hgvs_p": "p.Ala76Glu",
"transcript": "ENST00000546148.6",
"protein_id": "ENSP00000445451.1",
"transcript_support_level": 2,
"aa_start": 76,
"aa_end": null,
"aa_length": 614,
"cds_start": 227,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_181877.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000546148.6"
},
{
"aa_ref": "A",
"aa_alt": "E",
"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": "ZSCAN2",
"gene_hgnc_id": 20994,
"hgvs_c": "c.227C>A",
"hgvs_p": "p.Ala76Glu",
"transcript": "ENST00000327179.6",
"protein_id": "ENSP00000325123.6",
"transcript_support_level": 1,
"aa_start": 76,
"aa_end": null,
"aa_length": 613,
"cds_start": 227,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000327179.6"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN2",
"gene_hgnc_id": 20994,
"hgvs_c": "c.227C>A",
"hgvs_p": "p.Ala76Glu",
"transcript": "ENST00000538076.5",
"protein_id": "ENSP00000439132.1",
"transcript_support_level": 1,
"aa_start": 76,
"aa_end": null,
"aa_length": 238,
"cds_start": 227,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000538076.5"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN2",
"gene_hgnc_id": 20994,
"hgvs_c": "c.227C>A",
"hgvs_p": "p.Ala76Glu",
"transcript": "ENST00000541040.5",
"protein_id": "ENSP00000441342.1",
"transcript_support_level": 1,
"aa_start": 76,
"aa_end": null,
"aa_length": 210,
"cds_start": 227,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000541040.5"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN2",
"gene_hgnc_id": 20994,
"hgvs_c": "c.227C>A",
"hgvs_p": "p.Ala76Glu",
"transcript": "ENST00000485222.2",
"protein_id": "ENSP00000440004.1",
"transcript_support_level": 1,
"aa_start": 76,
"aa_end": null,
"aa_length": 200,
"cds_start": 227,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000485222.2"
},
{
"aa_ref": "A",
"aa_alt": "E",
"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": "ZSCAN2",
"gene_hgnc_id": 20994,
"hgvs_c": "c.227C>A",
"hgvs_p": "p.Ala76Glu",
"transcript": "ENST00000334141.7",
"protein_id": "ENSP00000333895.3",
"transcript_support_level": 1,
"aa_start": 76,
"aa_end": null,
"aa_length": 150,
"cds_start": 227,
"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": "ENST00000334141.7"
},
{
"aa_ref": "A",
"aa_alt": "E",
"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": "ZSCAN2",
"gene_hgnc_id": 20994,
"hgvs_c": "c.227C>A",
"hgvs_p": "p.Ala76Glu",
"transcript": "ENST00000379358.7",
"protein_id": "ENSP00000368663.3",
"transcript_support_level": 1,
"aa_start": 76,
"aa_end": null,
"aa_length": 146,
"cds_start": 227,
"cds_end": null,
"cds_length": 441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379358.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN2",
"gene_hgnc_id": 20994,
"hgvs_c": "n.227C>A",
"hgvs_p": null,
"transcript": "ENST00000540894.5",
"protein_id": "ENSP00000441855.1",
"transcript_support_level": 1,
"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": "ENST00000540894.5"
},
{
"aa_ref": "A",
"aa_alt": "E",
"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": "ZSCAN2",
"gene_hgnc_id": 20994,
"hgvs_c": "c.227C>A",
"hgvs_p": "p.Ala76Glu",
"transcript": "ENST00000448803.6",
"protein_id": "ENSP00000410198.2",
"transcript_support_level": 5,
"aa_start": 76,
"aa_end": null,
"aa_length": 614,
"cds_start": 227,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000448803.6"
},
{
"aa_ref": "A",
"aa_alt": "E",
"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": "ZSCAN2",
"gene_hgnc_id": 20994,
"hgvs_c": "c.227C>A",
"hgvs_p": "p.Ala76Glu",
"transcript": "ENST00000928202.1",
"protein_id": "ENSP00000598261.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 614,
"cds_start": 227,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928202.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN2",
"gene_hgnc_id": 20994,
"hgvs_c": "c.227C>A",
"hgvs_p": "p.Ala76Glu",
"transcript": "ENST00000928203.1",
"protein_id": "ENSP00000598262.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 614,
"cds_start": 227,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928203.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"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": "ZSCAN2",
"gene_hgnc_id": 20994,
"hgvs_c": "c.227C>A",
"hgvs_p": "p.Ala76Glu",
"transcript": "NM_017894.6",
"protein_id": "NP_060364.4",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 150,
"cds_start": 227,
"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": "NM_017894.6"
},
{
"aa_ref": "A",
"aa_alt": "E",
"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": "ZSCAN2",
"gene_hgnc_id": 20994,
"hgvs_c": "c.227C>A",
"hgvs_p": "p.Ala76Glu",
"transcript": "NM_001007072.2",
"protein_id": "NP_001007073.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 146,
"cds_start": 227,
"cds_end": null,
"cds_length": 441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001007072.2"
},
{
"aa_ref": "A",
"aa_alt": "E",
"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": "ZSCAN2",
"gene_hgnc_id": 20994,
"hgvs_c": "c.227C>A",
"hgvs_p": "p.Ala76Glu",
"transcript": "ENST00000540936.1",
"protein_id": "ENSP00000446041.1",
"transcript_support_level": 4,
"aa_start": 76,
"aa_end": null,
"aa_length": 106,
"cds_start": 227,
"cds_end": null,
"cds_length": 321,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000540936.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN2",
"gene_hgnc_id": 20994,
"hgvs_c": "c.227C>A",
"hgvs_p": "p.Ala76Glu",
"transcript": "XM_024449978.2",
"protein_id": "XP_024305746.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 645,
"cds_start": 227,
"cds_end": null,
"cds_length": 1938,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024449978.2"
},
{
"aa_ref": "A",
"aa_alt": "E",
"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": "ZSCAN2",
"gene_hgnc_id": 20994,
"hgvs_c": "c.227C>A",
"hgvs_p": "p.Ala76Glu",
"transcript": "XM_024449975.2",
"protein_id": "XP_024305743.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 614,
"cds_start": 227,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024449975.2"
},
{
"aa_ref": "A",
"aa_alt": "E",
"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": "ZSCAN2",
"gene_hgnc_id": 20994,
"hgvs_c": "c.227C>A",
"hgvs_p": "p.Ala76Glu",
"transcript": "XM_047432781.1",
"protein_id": "XP_047288737.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 614,
"cds_start": 227,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432781.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN2",
"gene_hgnc_id": 20994,
"hgvs_c": "c.227C>A",
"hgvs_p": "p.Ala76Glu",
"transcript": "XM_047432782.1",
"protein_id": "XP_047288738.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 181,
"cds_start": 227,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432782.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN2",
"gene_hgnc_id": 20994,
"hgvs_c": "c.227C>A",
"hgvs_p": "p.Ala76Glu",
"transcript": "XM_017022393.3",
"protein_id": "XP_016877882.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 166,
"cds_start": 227,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017022393.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZSCAN2",
"gene_hgnc_id": 20994,
"hgvs_c": "c.-45+3019C>A",
"hgvs_p": null,
"transcript": "ENST00000358472.3",
"protein_id": "ENSP00000351257.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 464,
"cds_start": null,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358472.3"
},
{
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZSCAN2-AS1",
"gene_hgnc_id": 56673,
"hgvs_c": "n.1548-169G>T",
"hgvs_p": null,
"transcript": "ENST00000618330.3",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000618330.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
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{
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{
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{
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"biotype": "protein_coding",
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],
"gene_symbol": "ZSCAN2",
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"dbsnp": "rs150217069",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 6.84307e-7,
"gnomad_genomes_af": 0.0000197135,
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"gnomad_genomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.272893488407135,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.253,
"revel_prediction": "Benign",
"alphamissense_score": 0.2302,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.25,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.872,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
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"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_181877.4",
"gene_symbol": "ZSCAN2",
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"effects": [
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],
"inheritance_mode": "AR",
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{
"score": 1,
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"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NR_186225.1",
"gene_symbol": "LOC105370947",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.257-169G>T",
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},
{
"score": 1,
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"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000658287.1",
"gene_symbol": "ZSCAN2-AS1",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1446-169G>T",
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}
],
"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
}