← Back to variant description
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: 20-2483289-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=2483289&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 2483289,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001282497.2",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "V",
"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": "ZNF343",
"gene_hgnc_id": 16017,
"hgvs_c": "c.1672T>G",
"hgvs_p": "p.Phe558Val",
"transcript": "NM_024325.6",
"protein_id": "NP_077301.4",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 599,
"cds_start": 1672,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000278772.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024325.6"
},
{
"aa_ref": "F",
"aa_alt": "V",
"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": "ZNF343",
"gene_hgnc_id": 16017,
"hgvs_c": "c.1672T>G",
"hgvs_p": "p.Phe558Val",
"transcript": "ENST00000278772.9",
"protein_id": "ENSP00000278772.4",
"transcript_support_level": 2,
"aa_start": 558,
"aa_end": null,
"aa_length": 599,
"cds_start": 1672,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024325.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000278772.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ENSG00000256566",
"gene_hgnc_id": null,
"hgvs_c": "n.304+9410T>G",
"hgvs_p": null,
"transcript": "ENST00000461548.1",
"protein_id": "ENSP00000456213.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000461548.1"
},
{
"aa_ref": "F",
"aa_alt": "V",
"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": "ZNF343",
"gene_hgnc_id": 16017,
"hgvs_c": "c.1795T>G",
"hgvs_p": "p.Phe599Val",
"transcript": "NM_001282497.2",
"protein_id": "NP_001269426.1",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 640,
"cds_start": 1795,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282497.2"
},
{
"aa_ref": "F",
"aa_alt": "V",
"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": "ZNF343",
"gene_hgnc_id": 16017,
"hgvs_c": "c.1795T>G",
"hgvs_p": "p.Phe599Val",
"transcript": "NM_001321801.2",
"protein_id": "NP_001308730.1",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 640,
"cds_start": 1795,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321801.2"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF343",
"gene_hgnc_id": 16017,
"hgvs_c": "c.1795T>G",
"hgvs_p": "p.Phe599Val",
"transcript": "ENST00000612935.4",
"protein_id": "ENSP00000482819.1",
"transcript_support_level": 5,
"aa_start": 599,
"aa_end": null,
"aa_length": 640,
"cds_start": 1795,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000612935.4"
},
{
"aa_ref": "F",
"aa_alt": "V",
"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": "ZNF343",
"gene_hgnc_id": 16017,
"hgvs_c": "c.1795T>G",
"hgvs_p": "p.Phe599Val",
"transcript": "ENST00000911238.1",
"protein_id": "ENSP00000581297.1",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 640,
"cds_start": 1795,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911238.1"
},
{
"aa_ref": "F",
"aa_alt": "V",
"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": "ZNF343",
"gene_hgnc_id": 16017,
"hgvs_c": "c.1795T>G",
"hgvs_p": "p.Phe599Val",
"transcript": "ENST00000928352.1",
"protein_id": "ENSP00000598411.1",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 640,
"cds_start": 1795,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928352.1"
},
{
"aa_ref": "F",
"aa_alt": "V",
"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": "ZNF343",
"gene_hgnc_id": 16017,
"hgvs_c": "c.1795T>G",
"hgvs_p": "p.Phe599Val",
"transcript": "ENST00000952206.1",
"protein_id": "ENSP00000622265.1",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 640,
"cds_start": 1795,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952206.1"
},
{
"aa_ref": "F",
"aa_alt": "V",
"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": "ZNF343",
"gene_hgnc_id": 16017,
"hgvs_c": "c.1792T>G",
"hgvs_p": "p.Phe598Val",
"transcript": "NM_001321802.2",
"protein_id": "NP_001308731.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 639,
"cds_start": 1792,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321802.2"
},
{
"aa_ref": "F",
"aa_alt": "V",
"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": "ZNF343",
"gene_hgnc_id": 16017,
"hgvs_c": "c.1792T>G",
"hgvs_p": "p.Phe598Val",
"transcript": "NM_001321803.2",
"protein_id": "NP_001308732.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 639,
"cds_start": 1792,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321803.2"
},
{
"aa_ref": "F",
"aa_alt": "V",
"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": "ZNF343",
"gene_hgnc_id": 16017,
"hgvs_c": "c.1792T>G",
"hgvs_p": "p.Phe598Val",
"transcript": "ENST00000911237.1",
"protein_id": "ENSP00000581296.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 639,
"cds_start": 1792,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911237.1"
},
{
"aa_ref": "F",
"aa_alt": "V",
"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": "ZNF343",
"gene_hgnc_id": 16017,
"hgvs_c": "c.1792T>G",
"hgvs_p": "p.Phe598Val",
"transcript": "ENST00000952204.1",
"protein_id": "ENSP00000622263.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 639,
"cds_start": 1792,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952204.1"
},
{
"aa_ref": "F",
"aa_alt": "V",
"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": "ZNF343",
"gene_hgnc_id": 16017,
"hgvs_c": "c.1693T>G",
"hgvs_p": "p.Phe565Val",
"transcript": "ENST00000952205.1",
"protein_id": "ENSP00000622264.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 606,
"cds_start": 1693,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952205.1"
},
{
"aa_ref": "F",
"aa_alt": "V",
"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": "ZNF343",
"gene_hgnc_id": 16017,
"hgvs_c": "c.1672T>G",
"hgvs_p": "p.Phe558Val",
"transcript": "NM_001282495.1",
"protein_id": "NP_001269424.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 599,
"cds_start": 1672,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282495.1"
},
{
"aa_ref": "F",
"aa_alt": "V",
"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": "ZNF343",
"gene_hgnc_id": 16017,
"hgvs_c": "c.1672T>G",
"hgvs_p": "p.Phe558Val",
"transcript": "NM_001282496.2",
"protein_id": "NP_001269425.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 599,
"cds_start": 1672,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282496.2"
},
{
"aa_ref": "F",
"aa_alt": "V",
"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": "ZNF343",
"gene_hgnc_id": 16017,
"hgvs_c": "c.1672T>G",
"hgvs_p": "p.Phe558Val",
"transcript": "NM_001321800.2",
"protein_id": "NP_001308729.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 599,
"cds_start": 1672,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321800.2"
},
{
"aa_ref": "F",
"aa_alt": "V",
"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": "ZNF343",
"gene_hgnc_id": 16017,
"hgvs_c": "c.1672T>G",
"hgvs_p": "p.Phe558Val",
"transcript": "ENST00000911235.1",
"protein_id": "ENSP00000581294.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 599,
"cds_start": 1672,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911235.1"
},
{
"aa_ref": "F",
"aa_alt": "V",
"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": "ZNF343",
"gene_hgnc_id": 16017,
"hgvs_c": "c.1672T>G",
"hgvs_p": "p.Phe558Val",
"transcript": "ENST00000911236.1",
"protein_id": "ENSP00000581295.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 599,
"cds_start": 1672,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911236.1"
},
{
"aa_ref": "F",
"aa_alt": "V",
"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": "ZNF343",
"gene_hgnc_id": 16017,
"hgvs_c": "c.1672T>G",
"hgvs_p": "p.Phe558Val",
"transcript": "ENST00000911239.1",
"protein_id": "ENSP00000581298.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 599,
"cds_start": 1672,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911239.1"
},
{
"aa_ref": "F",
"aa_alt": "V",
"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": "ZNF343",
"gene_hgnc_id": 16017,
"hgvs_c": "c.1672T>G",
"hgvs_p": "p.Phe558Val",
"transcript": "ENST00000911241.1",
"protein_id": "ENSP00000581300.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 599,
"cds_start": 1672,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911241.1"
},
{
"aa_ref": "F",
"aa_alt": "V",
"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": "ZNF343",
"gene_hgnc_id": 16017,
"hgvs_c": "c.1672T>G",
"hgvs_p": "p.Phe558Val",
"transcript": "ENST00000928351.1",
"protein_id": "ENSP00000598410.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 599,
"cds_start": 1672,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928351.1"
},
{
"aa_ref": "F",
"aa_alt": "V",
"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": "ZNF343",
"gene_hgnc_id": 16017,
"hgvs_c": "c.1669T>G",
"hgvs_p": "p.Phe557Val",
"transcript": "NM_001321805.2",
"protein_id": "NP_001308734.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 598,
"cds_start": 1669,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321805.2"
},
{
"aa_ref": "F",
"aa_alt": "V",
"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": "ZNF343",
"gene_hgnc_id": 16017,
"hgvs_c": "c.1669T>G",
"hgvs_p": "p.Phe557Val",
"transcript": "ENST00000911242.1",
"protein_id": "ENSP00000581301.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 598,
"cds_start": 1669,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911242.1"
},
{
"aa_ref": "F",
"aa_alt": "V",
"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": "ZNF343",
"gene_hgnc_id": 16017,
"hgvs_c": "c.1669T>G",
"hgvs_p": "p.Phe557Val",
"transcript": "ENST00000928350.1",
"protein_id": "ENSP00000598409.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 598,
"cds_start": 1669,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928350.1"
},
{
"aa_ref": "F",
"aa_alt": "V",
"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": "ZNF343",
"gene_hgnc_id": 16017,
"hgvs_c": "c.1669T>G",
"hgvs_p": "p.Phe557Val",
"transcript": "ENST00000952207.1",
"protein_id": "ENSP00000622266.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 598,
"cds_start": 1669,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952207.1"
},
{
"aa_ref": "F",
"aa_alt": "V",
"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": "ZNF343",
"gene_hgnc_id": 16017,
"hgvs_c": "c.1570T>G",
"hgvs_p": "p.Phe524Val",
"transcript": "ENST00000911240.1",
"protein_id": "ENSP00000581299.1",
"transcript_support_level": null,
"aa_start": 524,
"aa_end": null,
"aa_length": 565,
"cds_start": 1570,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911240.1"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF343",
"gene_hgnc_id": 16017,
"hgvs_c": "c.1402T>G",
"hgvs_p": "p.Phe468Val",
"transcript": "NM_001282498.2",
"protein_id": "NP_001269427.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 509,
"cds_start": 1402,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282498.2"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF343",
"gene_hgnc_id": 16017,
"hgvs_c": "c.1402T>G",
"hgvs_p": "p.Phe468Val",
"transcript": "ENST00000617391.4",
"protein_id": "ENSP00000483851.1",
"transcript_support_level": 4,
"aa_start": 468,
"aa_end": null,
"aa_length": 509,
"cds_start": 1402,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000617391.4"
},
{
"aa_ref": "F",
"aa_alt": "V",
"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": "ZNF343",
"gene_hgnc_id": 16017,
"hgvs_c": "c.1792T>G",
"hgvs_p": "p.Phe598Val",
"transcript": "XM_047440474.1",
"protein_id": "XP_047296430.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 639,
"cds_start": 1792,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440474.1"
},
{
"aa_ref": "F",
"aa_alt": "V",
"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": "ZNF343",
"gene_hgnc_id": 16017,
"hgvs_c": "c.1732T>G",
"hgvs_p": "p.Phe578Val",
"transcript": "XM_047440475.1",
"protein_id": "XP_047296431.1",
"transcript_support_level": null,
"aa_start": 578,
"aa_end": null,
"aa_length": 619,
"cds_start": 1732,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440475.1"
},
{
"aa_ref": "F",
"aa_alt": "V",
"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": "ZNF343",
"gene_hgnc_id": 16017,
"hgvs_c": "c.1672T>G",
"hgvs_p": "p.Phe558Val",
"transcript": "XM_047440476.1",
"protein_id": "XP_047296432.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 599,
"cds_start": 1672,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440476.1"
},
{
"aa_ref": "F",
"aa_alt": "V",
"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": "ZNF343",
"gene_hgnc_id": 16017,
"hgvs_c": "c.1669T>G",
"hgvs_p": "p.Phe557Val",
"transcript": "XM_047440477.1",
"protein_id": "XP_047296433.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 598,
"cds_start": 1669,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440477.1"
},
{
"aa_ref": "F",
"aa_alt": "V",
"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": "ZNF343",
"gene_hgnc_id": 16017,
"hgvs_c": "c.1612T>G",
"hgvs_p": "p.Phe538Val",
"transcript": "XM_047440478.1",
"protein_id": "XP_047296434.1",
"transcript_support_level": null,
"aa_start": 538,
"aa_end": null,
"aa_length": 579,
"cds_start": 1612,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440478.1"
},
{
"aa_ref": "F",
"aa_alt": "V",
"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": "ZNF343",
"gene_hgnc_id": 16017,
"hgvs_c": "c.1612T>G",
"hgvs_p": "p.Phe538Val",
"transcript": "XM_047440479.1",
"protein_id": "XP_047296435.1",
"transcript_support_level": null,
"aa_start": 538,
"aa_end": null,
"aa_length": 579,
"cds_start": 1612,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440479.1"
},
{
"aa_ref": "F",
"aa_alt": "V",
"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": "ZNF343",
"gene_hgnc_id": 16017,
"hgvs_c": "c.1609T>G",
"hgvs_p": "p.Phe537Val",
"transcript": "XM_047440480.1",
"protein_id": "XP_047296436.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 578,
"cds_start": 1609,
"cds_end": null,
"cds_length": 1737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440480.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF343",
"gene_hgnc_id": 16017,
"hgvs_c": "n.1700T>G",
"hgvs_p": null,
"transcript": "ENST00000465019.1",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000465019.1"
}
],
"gene_symbol": "ZNF343",
"gene_hgnc_id": 16017,
"dbsnp": "rs757699168",
"frequency_reference_population": 0.00000806837,
"hom_count_reference_population": 0,
"allele_count_reference_population": 13,
"gnomad_exomes_af": 0.00000616271,
"gnomad_genomes_af": 0.0000265192,
"gnomad_exomes_ac": 9,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5253587365150452,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.179,
"revel_prediction": "Benign",
"alphamissense_score": 0.9404,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.957,
"phylop100way_prediction": "Uncertain_significance",
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001282497.2",
"gene_symbol": "ZNF343",
"hgnc_id": 16017,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1795T>G",
"hgvs_p": "p.Phe599Val"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000461548.1",
"gene_symbol": "ENSG00000256566",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.304+9410T>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
}