← 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: 19-40074826-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=40074826&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 40074826,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001142577.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"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": "ZNF780A",
"gene_hgnc_id": 27603,
"hgvs_c": "c.1616G>A",
"hgvs_p": "p.Arg539His",
"transcript": "NM_001142578.2",
"protein_id": "NP_001136050.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 641,
"cds_start": 1616,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000683561.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142578.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "ZNF780A",
"gene_hgnc_id": 27603,
"hgvs_c": "c.1616G>A",
"hgvs_p": "p.Arg539His",
"transcript": "ENST00000683561.1",
"protein_id": "ENSP00000506741.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 641,
"cds_start": 1616,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001142578.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683561.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "ZNF780A",
"gene_hgnc_id": 27603,
"hgvs_c": "c.1640G>A",
"hgvs_p": "p.Arg547His",
"transcript": "ENST00000907466.1",
"protein_id": "ENSP00000577525.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 649,
"cds_start": 1640,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907466.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "ZNF780A",
"gene_hgnc_id": 27603,
"hgvs_c": "c.1619G>A",
"hgvs_p": "p.Arg540His",
"transcript": "NM_001142577.2",
"protein_id": "NP_001136049.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 642,
"cds_start": 1619,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142577.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "ZNF780A",
"gene_hgnc_id": 27603,
"hgvs_c": "c.1619G>A",
"hgvs_p": "p.Arg540His",
"transcript": "ENST00000455521.5",
"protein_id": "ENSP00000400997.1",
"transcript_support_level": 5,
"aa_start": 540,
"aa_end": null,
"aa_length": 642,
"cds_start": 1619,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000455521.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "ZNF780A",
"gene_hgnc_id": 27603,
"hgvs_c": "c.1619G>A",
"hgvs_p": "p.Arg540His",
"transcript": "ENST00000594395.5",
"protein_id": "ENSP00000469786.1",
"transcript_support_level": 2,
"aa_start": 540,
"aa_end": null,
"aa_length": 642,
"cds_start": 1619,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000594395.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "ZNF780A",
"gene_hgnc_id": 27603,
"hgvs_c": "c.1619G>A",
"hgvs_p": "p.Arg540His",
"transcript": "ENST00000907464.1",
"protein_id": "ENSP00000577523.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 642,
"cds_start": 1619,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907464.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "ZNF780A",
"gene_hgnc_id": 27603,
"hgvs_c": "c.1619G>A",
"hgvs_p": "p.Arg540His",
"transcript": "ENST00000907467.1",
"protein_id": "ENSP00000577526.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 642,
"cds_start": 1619,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907467.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "ZNF780A",
"gene_hgnc_id": 27603,
"hgvs_c": "c.1619G>A",
"hgvs_p": "p.Arg540His",
"transcript": "ENST00000937715.1",
"protein_id": "ENSP00000607774.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 642,
"cds_start": 1619,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937715.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "ZNF780A",
"gene_hgnc_id": 27603,
"hgvs_c": "c.1616G>A",
"hgvs_p": "p.Arg539His",
"transcript": "NM_001010880.3",
"protein_id": "NP_001010880.2",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 641,
"cds_start": 1616,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001010880.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "ZNF780A",
"gene_hgnc_id": 27603,
"hgvs_c": "c.1616G>A",
"hgvs_p": "p.Arg539His",
"transcript": "ENST00000340963.9",
"protein_id": "ENSP00000341507.5",
"transcript_support_level": 2,
"aa_start": 539,
"aa_end": null,
"aa_length": 641,
"cds_start": 1616,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340963.9"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "ZNF780A",
"gene_hgnc_id": 27603,
"hgvs_c": "c.1616G>A",
"hgvs_p": "p.Arg539His",
"transcript": "ENST00000595687.6",
"protein_id": "ENSP00000472189.1",
"transcript_support_level": 2,
"aa_start": 539,
"aa_end": null,
"aa_length": 641,
"cds_start": 1616,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000595687.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "ZNF780A",
"gene_hgnc_id": 27603,
"hgvs_c": "c.1616G>A",
"hgvs_p": "p.Arg539His",
"transcript": "ENST00000907463.1",
"protein_id": "ENSP00000577522.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 641,
"cds_start": 1616,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907463.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "ZNF780A",
"gene_hgnc_id": 27603,
"hgvs_c": "c.1616G>A",
"hgvs_p": "p.Arg539His",
"transcript": "ENST00000907465.1",
"protein_id": "ENSP00000577524.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 641,
"cds_start": 1616,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907465.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "ZNF780A",
"gene_hgnc_id": 27603,
"hgvs_c": "c.1616G>A",
"hgvs_p": "p.Arg539His",
"transcript": "ENST00000937711.1",
"protein_id": "ENSP00000607770.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 641,
"cds_start": 1616,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937711.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "ZNF780A",
"gene_hgnc_id": 27603,
"hgvs_c": "c.1616G>A",
"hgvs_p": "p.Arg539His",
"transcript": "ENST00000937712.1",
"protein_id": "ENSP00000607771.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 641,
"cds_start": 1616,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937712.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "ZNF780A",
"gene_hgnc_id": 27603,
"hgvs_c": "c.1616G>A",
"hgvs_p": "p.Arg539His",
"transcript": "ENST00000937713.1",
"protein_id": "ENSP00000607772.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 641,
"cds_start": 1616,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937713.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "ZNF780A",
"gene_hgnc_id": 27603,
"hgvs_c": "c.1616G>A",
"hgvs_p": "p.Arg539His",
"transcript": "ENST00000937714.1",
"protein_id": "ENSP00000607773.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 641,
"cds_start": 1616,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937714.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "ZNF780A",
"gene_hgnc_id": 27603,
"hgvs_c": "c.1616G>A",
"hgvs_p": "p.Arg539His",
"transcript": "ENST00000970365.1",
"protein_id": "ENSP00000640424.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 641,
"cds_start": 1616,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970365.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "ZNF780A",
"gene_hgnc_id": 27603,
"hgvs_c": "c.1616G>A",
"hgvs_p": "p.Arg539His",
"transcript": "ENST00000970366.1",
"protein_id": "ENSP00000640425.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 641,
"cds_start": 1616,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970366.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "ZNF780A",
"gene_hgnc_id": 27603,
"hgvs_c": "c.1616G>A",
"hgvs_p": "p.Arg539His",
"transcript": "ENST00000970367.1",
"protein_id": "ENSP00000640426.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 641,
"cds_start": 1616,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970367.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "ZNF780A",
"gene_hgnc_id": 27603,
"hgvs_c": "c.1514G>A",
"hgvs_p": "p.Arg505His",
"transcript": "ENST00000450241.6",
"protein_id": "ENSP00000387705.3",
"transcript_support_level": 2,
"aa_start": 505,
"aa_end": null,
"aa_length": 607,
"cds_start": 1514,
"cds_end": null,
"cds_length": 1824,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000450241.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "ZNF780A",
"gene_hgnc_id": 27603,
"hgvs_c": "c.1619G>A",
"hgvs_p": "p.Arg540His",
"transcript": "XM_005258773.4",
"protein_id": "XP_005258830.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 642,
"cds_start": 1619,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005258773.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "ZNF780A",
"gene_hgnc_id": 27603,
"hgvs_c": "c.1619G>A",
"hgvs_p": "p.Arg540His",
"transcript": "XM_006723150.5",
"protein_id": "XP_006723213.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 642,
"cds_start": 1619,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006723150.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "ZNF780A",
"gene_hgnc_id": 27603,
"hgvs_c": "c.1619G>A",
"hgvs_p": "p.Arg540His",
"transcript": "XM_011526771.4",
"protein_id": "XP_011525073.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 642,
"cds_start": 1619,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011526771.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "ZNF780A",
"gene_hgnc_id": 27603,
"hgvs_c": "c.1619G>A",
"hgvs_p": "p.Arg540His",
"transcript": "XM_011526772.4",
"protein_id": "XP_011525074.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 642,
"cds_start": 1619,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011526772.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "ZNF780A",
"gene_hgnc_id": 27603,
"hgvs_c": "c.1616G>A",
"hgvs_p": "p.Arg539His",
"transcript": "XM_017026618.3",
"protein_id": "XP_016882107.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 641,
"cds_start": 1616,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017026618.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "ZNF780A",
"gene_hgnc_id": 27603,
"hgvs_c": "c.1616G>A",
"hgvs_p": "p.Arg539His",
"transcript": "XM_017026619.3",
"protein_id": "XP_016882108.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 641,
"cds_start": 1616,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017026619.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "ZNF780A",
"gene_hgnc_id": 27603,
"hgvs_c": "c.1616G>A",
"hgvs_p": "p.Arg539His",
"transcript": "XM_047438631.1",
"protein_id": "XP_047294587.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 641,
"cds_start": 1616,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438631.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ZNF780A",
"gene_hgnc_id": 27603,
"hgvs_c": "c.354+1310G>A",
"hgvs_p": null,
"transcript": "NM_001142579.2",
"protein_id": "NP_001136051.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 158,
"cds_start": null,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142579.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ZNF780A",
"gene_hgnc_id": 27603,
"hgvs_c": "c.354+1310G>A",
"hgvs_p": null,
"transcript": "ENST00000414720.6",
"protein_id": "ENSP00000416294.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 158,
"cds_start": null,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000414720.6"
},
{
"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": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ENSG00000269749",
"gene_hgnc_id": null,
"hgvs_c": "n.367+6993G>A",
"hgvs_p": null,
"transcript": "ENST00000595508.1",
"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": "ENST00000595508.1"
}
],
"gene_symbol": "ZNF780A",
"gene_hgnc_id": 27603,
"dbsnp": "rs144970820",
"frequency_reference_population": 0.000096650445,
"hom_count_reference_population": 0,
"allele_count_reference_population": 156,
"gnomad_exomes_af": 0.000097825,
"gnomad_genomes_af": 0.0000853747,
"gnomad_exomes_ac": 143,
"gnomad_genomes_ac": 13,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.04464292526245117,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.036,
"revel_prediction": "Benign",
"alphamissense_score": 0.3841,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.8,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.895,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001142577.2",
"gene_symbol": "ZNF780A",
"hgnc_id": 27603,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1619G>A",
"hgvs_p": "p.Arg540His"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000595508.1",
"gene_symbol": "ENSG00000269749",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.367+6993G>A",
"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
}