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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: 7-99622567-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=99622567&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 99622567,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_145115.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN25",
"gene_hgnc_id": 21961,
"hgvs_c": "c.608C>T",
"hgvs_p": "p.Ala203Val",
"transcript": "NM_145115.3",
"protein_id": "NP_660090.2",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 544,
"cds_start": 608,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000394152.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_145115.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN25",
"gene_hgnc_id": 21961,
"hgvs_c": "c.608C>T",
"hgvs_p": "p.Ala203Val",
"transcript": "ENST00000394152.7",
"protein_id": "ENSP00000377708.2",
"transcript_support_level": 5,
"aa_start": 203,
"aa_end": null,
"aa_length": 544,
"cds_start": 608,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_145115.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394152.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN25",
"gene_hgnc_id": 21961,
"hgvs_c": "n.2316C>T",
"hgvs_p": null,
"transcript": "ENST00000481424.5",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000481424.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN25",
"gene_hgnc_id": 21961,
"hgvs_c": "c.608C>T",
"hgvs_p": "p.Ala203Val",
"transcript": "NM_001350979.2",
"protein_id": "NP_001337908.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 544,
"cds_start": 608,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350979.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN25",
"gene_hgnc_id": 21961,
"hgvs_c": "c.608C>T",
"hgvs_p": "p.Ala203Val",
"transcript": "NM_001350980.2",
"protein_id": "NP_001337909.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 544,
"cds_start": 608,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350980.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN25",
"gene_hgnc_id": 21961,
"hgvs_c": "c.608C>T",
"hgvs_p": "p.Ala203Val",
"transcript": "ENST00000873815.1",
"protein_id": "ENSP00000543874.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 544,
"cds_start": 608,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873815.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN25",
"gene_hgnc_id": 21961,
"hgvs_c": "c.608C>T",
"hgvs_p": "p.Ala203Val",
"transcript": "ENST00000873816.1",
"protein_id": "ENSP00000543875.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 544,
"cds_start": 608,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873816.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN25",
"gene_hgnc_id": 21961,
"hgvs_c": "c.608C>T",
"hgvs_p": "p.Ala203Val",
"transcript": "ENST00000873817.1",
"protein_id": "ENSP00000543876.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 544,
"cds_start": 608,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873817.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN25",
"gene_hgnc_id": 21961,
"hgvs_c": "c.608C>T",
"hgvs_p": "p.Ala203Val",
"transcript": "ENST00000873818.1",
"protein_id": "ENSP00000543877.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 544,
"cds_start": 608,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873818.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN25",
"gene_hgnc_id": 21961,
"hgvs_c": "c.608C>T",
"hgvs_p": "p.Ala203Val",
"transcript": "ENST00000873819.1",
"protein_id": "ENSP00000543878.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 544,
"cds_start": 608,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873819.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN25",
"gene_hgnc_id": 21961,
"hgvs_c": "c.608C>T",
"hgvs_p": "p.Ala203Val",
"transcript": "ENST00000873820.1",
"protein_id": "ENSP00000543879.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 544,
"cds_start": 608,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873820.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN25",
"gene_hgnc_id": 21961,
"hgvs_c": "c.608C>T",
"hgvs_p": "p.Ala203Val",
"transcript": "ENST00000873821.1",
"protein_id": "ENSP00000543880.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 544,
"cds_start": 608,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873821.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN25",
"gene_hgnc_id": 21961,
"hgvs_c": "c.608C>T",
"hgvs_p": "p.Ala203Val",
"transcript": "ENST00000873822.1",
"protein_id": "ENSP00000543881.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 544,
"cds_start": 608,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873822.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN25",
"gene_hgnc_id": 21961,
"hgvs_c": "c.608C>T",
"hgvs_p": "p.Ala203Val",
"transcript": "ENST00000873823.1",
"protein_id": "ENSP00000543882.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 544,
"cds_start": 608,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873823.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN25",
"gene_hgnc_id": 21961,
"hgvs_c": "c.608C>T",
"hgvs_p": "p.Ala203Val",
"transcript": "ENST00000873824.1",
"protein_id": "ENSP00000543883.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 544,
"cds_start": 608,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873824.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN25",
"gene_hgnc_id": 21961,
"hgvs_c": "c.608C>T",
"hgvs_p": "p.Ala203Val",
"transcript": "ENST00000873825.1",
"protein_id": "ENSP00000543884.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 544,
"cds_start": 608,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873825.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN25",
"gene_hgnc_id": 21961,
"hgvs_c": "c.608C>T",
"hgvs_p": "p.Ala203Val",
"transcript": "ENST00000919726.1",
"protein_id": "ENSP00000589785.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 544,
"cds_start": 608,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919726.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN25",
"gene_hgnc_id": 21961,
"hgvs_c": "c.608C>T",
"hgvs_p": "p.Ala203Val",
"transcript": "ENST00000919727.1",
"protein_id": "ENSP00000589786.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 544,
"cds_start": 608,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919727.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN25",
"gene_hgnc_id": 21961,
"hgvs_c": "c.608C>T",
"hgvs_p": "p.Ala203Val",
"transcript": "ENST00000964553.1",
"protein_id": "ENSP00000634612.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 544,
"cds_start": 608,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964553.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN25",
"gene_hgnc_id": 21961,
"hgvs_c": "c.116C>T",
"hgvs_p": "p.Ala39Val",
"transcript": "NM_001350981.2",
"protein_id": "NP_001337910.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 380,
"cds_start": 116,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350981.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN25",
"gene_hgnc_id": 21961,
"hgvs_c": "c.116C>T",
"hgvs_p": "p.Ala39Val",
"transcript": "NM_001350982.2",
"protein_id": "NP_001337911.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 380,
"cds_start": 116,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350982.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN25",
"gene_hgnc_id": 21961,
"hgvs_c": "c.116C>T",
"hgvs_p": "p.Ala39Val",
"transcript": "NM_001350983.2",
"protein_id": "NP_001337912.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 380,
"cds_start": 116,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350983.2"
},
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"exon_count": 8,
"intron_rank": null,
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"gene_symbol": "ZSCAN25",
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"hgvs_c": "n.725C>T",
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"transcript": "XR_007059990.1",
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"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": "XR_007059990.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN25",
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"hgvs_c": "n.937C>T",
"hgvs_p": null,
"transcript": "XR_927402.3",
"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": "XR_927402.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN25",
"gene_hgnc_id": 21961,
"hgvs_c": "n.*123C>T",
"hgvs_p": null,
"transcript": "ENST00000394150.5",
"protein_id": "ENSP00000377706.1",
"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": "ENST00000394150.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZSCAN25",
"gene_hgnc_id": 21961,
"hgvs_c": "n.393+1131C>T",
"hgvs_p": null,
"transcript": "ENST00000466948.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000466948.1"
}
],
"gene_symbol": "ZSCAN25",
"gene_hgnc_id": 21961,
"dbsnp": "rs200142949",
"frequency_reference_population": 0.000084254665,
"hom_count_reference_population": 0,
"allele_count_reference_population": 136,
"gnomad_exomes_af": 0.0000800356,
"gnomad_genomes_af": 0.00012475,
"gnomad_exomes_ac": 117,
"gnomad_genomes_ac": 19,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.017658472061157227,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.3100000023841858,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.011,
"revel_prediction": "Benign",
"alphamissense_score": 0.1511,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.77,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.198,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.31,
"spliceai_max_prediction": "Uncertain_significance",
"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": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_145115.3",
"gene_symbol": "ZSCAN25",
"hgnc_id": 21961,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.608C>T",
"hgvs_p": "p.Ala203Val"
}
],
"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
}