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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: 9-128731384-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=128731384&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 128731384,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_006336.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZER1",
"gene_hgnc_id": 30960,
"hgvs_c": "c.2254G>A",
"hgvs_p": "p.Glu752Lys",
"transcript": "NM_006336.4",
"protein_id": "NP_006327.2",
"transcript_support_level": null,
"aa_start": 752,
"aa_end": null,
"aa_length": 766,
"cds_start": 2254,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000291900.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006336.4"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZER1",
"gene_hgnc_id": 30960,
"hgvs_c": "c.2254G>A",
"hgvs_p": "p.Glu752Lys",
"transcript": "ENST00000291900.7",
"protein_id": "ENSP00000291900.2",
"transcript_support_level": 1,
"aa_start": 752,
"aa_end": null,
"aa_length": 766,
"cds_start": 2254,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006336.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000291900.7"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZER1",
"gene_hgnc_id": 30960,
"hgvs_c": "c.2281G>A",
"hgvs_p": "p.Glu761Lys",
"transcript": "ENST00000960734.1",
"protein_id": "ENSP00000630793.1",
"transcript_support_level": null,
"aa_start": 761,
"aa_end": null,
"aa_length": 775,
"cds_start": 2281,
"cds_end": null,
"cds_length": 2328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960734.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZER1",
"gene_hgnc_id": 30960,
"hgvs_c": "c.2254G>A",
"hgvs_p": "p.Glu752Lys",
"transcript": "NM_001375954.1",
"protein_id": "NP_001362883.1",
"transcript_support_level": null,
"aa_start": 752,
"aa_end": null,
"aa_length": 766,
"cds_start": 2254,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375954.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZER1",
"gene_hgnc_id": 30960,
"hgvs_c": "c.2254G>A",
"hgvs_p": "p.Glu752Lys",
"transcript": "NM_001375955.1",
"protein_id": "NP_001362884.1",
"transcript_support_level": null,
"aa_start": 752,
"aa_end": null,
"aa_length": 766,
"cds_start": 2254,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375955.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZER1",
"gene_hgnc_id": 30960,
"hgvs_c": "c.2254G>A",
"hgvs_p": "p.Glu752Lys",
"transcript": "NM_001375956.1",
"protein_id": "NP_001362885.1",
"transcript_support_level": null,
"aa_start": 752,
"aa_end": null,
"aa_length": 766,
"cds_start": 2254,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375956.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZER1",
"gene_hgnc_id": 30960,
"hgvs_c": "c.2254G>A",
"hgvs_p": "p.Glu752Lys",
"transcript": "ENST00000873659.1",
"protein_id": "ENSP00000543718.1",
"transcript_support_level": null,
"aa_start": 752,
"aa_end": null,
"aa_length": 766,
"cds_start": 2254,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873659.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZER1",
"gene_hgnc_id": 30960,
"hgvs_c": "c.2254G>A",
"hgvs_p": "p.Glu752Lys",
"transcript": "ENST00000929005.1",
"protein_id": "ENSP00000599064.1",
"transcript_support_level": null,
"aa_start": 752,
"aa_end": null,
"aa_length": 766,
"cds_start": 2254,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929005.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZER1",
"gene_hgnc_id": 30960,
"hgvs_c": "c.2254G>A",
"hgvs_p": "p.Glu752Lys",
"transcript": "ENST00000960717.1",
"protein_id": "ENSP00000630776.1",
"transcript_support_level": null,
"aa_start": 752,
"aa_end": null,
"aa_length": 766,
"cds_start": 2254,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960717.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZER1",
"gene_hgnc_id": 30960,
"hgvs_c": "c.2254G>A",
"hgvs_p": "p.Glu752Lys",
"transcript": "ENST00000960718.1",
"protein_id": "ENSP00000630777.1",
"transcript_support_level": null,
"aa_start": 752,
"aa_end": null,
"aa_length": 766,
"cds_start": 2254,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960718.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZER1",
"gene_hgnc_id": 30960,
"hgvs_c": "c.2254G>A",
"hgvs_p": "p.Glu752Lys",
"transcript": "ENST00000960720.1",
"protein_id": "ENSP00000630779.1",
"transcript_support_level": null,
"aa_start": 752,
"aa_end": null,
"aa_length": 766,
"cds_start": 2254,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960720.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZER1",
"gene_hgnc_id": 30960,
"hgvs_c": "c.2254G>A",
"hgvs_p": "p.Glu752Lys",
"transcript": "ENST00000960722.1",
"protein_id": "ENSP00000630781.1",
"transcript_support_level": null,
"aa_start": 752,
"aa_end": null,
"aa_length": 766,
"cds_start": 2254,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960722.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZER1",
"gene_hgnc_id": 30960,
"hgvs_c": "c.2254G>A",
"hgvs_p": "p.Glu752Lys",
"transcript": "ENST00000960724.1",
"protein_id": "ENSP00000630783.1",
"transcript_support_level": null,
"aa_start": 752,
"aa_end": null,
"aa_length": 766,
"cds_start": 2254,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960724.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZER1",
"gene_hgnc_id": 30960,
"hgvs_c": "c.2254G>A",
"hgvs_p": "p.Glu752Lys",
"transcript": "ENST00000960730.1",
"protein_id": "ENSP00000630789.1",
"transcript_support_level": null,
"aa_start": 752,
"aa_end": null,
"aa_length": 766,
"cds_start": 2254,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960730.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZER1",
"gene_hgnc_id": 30960,
"hgvs_c": "c.2254G>A",
"hgvs_p": "p.Glu752Lys",
"transcript": "ENST00000960731.1",
"protein_id": "ENSP00000630790.1",
"transcript_support_level": null,
"aa_start": 752,
"aa_end": null,
"aa_length": 766,
"cds_start": 2254,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960731.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZER1",
"gene_hgnc_id": 30960,
"hgvs_c": "c.2248G>A",
"hgvs_p": "p.Glu750Lys",
"transcript": "NM_001375957.1",
"protein_id": "NP_001362886.1",
"transcript_support_level": null,
"aa_start": 750,
"aa_end": null,
"aa_length": 764,
"cds_start": 2248,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375957.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZER1",
"gene_hgnc_id": 30960,
"hgvs_c": "c.2248G>A",
"hgvs_p": "p.Glu750Lys",
"transcript": "NM_001375958.1",
"protein_id": "NP_001362887.1",
"transcript_support_level": null,
"aa_start": 750,
"aa_end": null,
"aa_length": 764,
"cds_start": 2248,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375958.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZER1",
"gene_hgnc_id": 30960,
"hgvs_c": "c.2248G>A",
"hgvs_p": "p.Glu750Lys",
"transcript": "ENST00000873658.1",
"protein_id": "ENSP00000543717.1",
"transcript_support_level": null,
"aa_start": 750,
"aa_end": null,
"aa_length": 764,
"cds_start": 2248,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873658.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZER1",
"gene_hgnc_id": 30960,
"hgvs_c": "c.2248G>A",
"hgvs_p": "p.Glu750Lys",
"transcript": "ENST00000929006.1",
"protein_id": "ENSP00000599065.1",
"transcript_support_level": null,
"aa_start": 750,
"aa_end": null,
"aa_length": 764,
"cds_start": 2248,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929006.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZER1",
"gene_hgnc_id": 30960,
"hgvs_c": "c.2248G>A",
"hgvs_p": "p.Glu750Lys",
"transcript": "ENST00000960719.1",
"protein_id": "ENSP00000630778.1",
"transcript_support_level": null,
"aa_start": 750,
"aa_end": null,
"aa_length": 764,
"cds_start": 2248,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960719.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZER1",
"gene_hgnc_id": 30960,
"hgvs_c": "c.2248G>A",
"hgvs_p": "p.Glu750Lys",
"transcript": "ENST00000960725.1",
"protein_id": "ENSP00000630784.1",
"transcript_support_level": null,
"aa_start": 750,
"aa_end": null,
"aa_length": 764,
"cds_start": 2248,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960725.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZER1",
"gene_hgnc_id": 30960,
"hgvs_c": "c.2248G>A",
"hgvs_p": "p.Glu750Lys",
"transcript": "ENST00000960727.1",
"protein_id": "ENSP00000630786.1",
"transcript_support_level": null,
"aa_start": 750,
"aa_end": null,
"aa_length": 764,
"cds_start": 2248,
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"cds_length": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000795243.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZDHHC12-DT",
"gene_hgnc_id": 55873,
"hgvs_c": "n.45-1458C>T",
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"transcript": "ENST00000795244.1",
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"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000795244.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
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"gene_symbol": "ZDHHC12-DT",
"gene_hgnc_id": 55873,
"hgvs_c": "n.402+1136C>T",
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"transcript": "ENST00000795245.1",
"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,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000795245.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZDHHC12-DT",
"gene_hgnc_id": 55873,
"hgvs_c": "n.343+1136C>T",
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"transcript": "ENST00000795246.1",
"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": "ENST00000795246.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZDHHC12-DT",
"gene_hgnc_id": 55873,
"hgvs_c": "n.175-1458C>T",
"hgvs_p": null,
"transcript": "NR_046240.1",
"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_046240.1"
}
],
"gene_symbol": "ZER1",
"gene_hgnc_id": 30960,
"dbsnp": "rs1457212628",
"frequency_reference_population": 0.0000074508985,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0000074509,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.42940330505371094,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07000000029802322,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.355,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1307,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": 0.09,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 6.655,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.07,
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_006336.4",
"gene_symbol": "ZER1",
"hgnc_id": 30960,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2254G>A",
"hgvs_p": "p.Glu752Lys"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000443631.3",
"gene_symbol": "ZDHHC12-DT",
"hgnc_id": 55873,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.289-1458C>T",
"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
}