← 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: 19-44175851-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=44175851&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 44175851,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000337433.10",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
"hgvs_c": "c.589T>C",
"hgvs_p": "p.Cys197Arg",
"transcript": "NM_001032373.2",
"protein_id": "NP_001027545.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 803,
"cds_start": 589,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 729,
"cdna_end": null,
"cdna_length": 2563,
"mane_select": "ENST00000337433.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
"hgvs_c": "c.589T>C",
"hgvs_p": "p.Cys197Arg",
"transcript": "ENST00000337433.10",
"protein_id": "ENSP00000336719.5",
"transcript_support_level": 1,
"aa_start": 197,
"aa_end": null,
"aa_length": 803,
"cds_start": 589,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 729,
"cdna_end": null,
"cdna_length": 2563,
"mane_select": "NM_001032373.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
"hgvs_c": "c.589T>C",
"hgvs_p": "p.Cys197Arg",
"transcript": "ENST00000454662.6",
"protein_id": "ENSP00000393265.1",
"transcript_support_level": 1,
"aa_start": 197,
"aa_end": null,
"aa_length": 803,
"cds_start": 589,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 769,
"cdna_end": null,
"cdna_length": 2605,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
"hgvs_c": "c.589T>C",
"hgvs_p": "p.Cys197Arg",
"transcript": "ENST00000590089.5",
"protein_id": "ENSP00000465121.1",
"transcript_support_level": 1,
"aa_start": 197,
"aa_end": null,
"aa_length": 803,
"cds_start": 589,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 956,
"cdna_end": null,
"cdna_length": 2788,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
"hgvs_c": "c.*2864T>C",
"hgvs_p": null,
"transcript": "ENST00000588883.5",
"protein_id": "ENSP00000465401.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 89,
"cds_start": -4,
"cds_end": null,
"cds_length": 270,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5972,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
"hgvs_c": "c.589T>C",
"hgvs_p": "p.Cys197Arg",
"transcript": "NM_001032372.2",
"protein_id": "NP_001027544.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 803,
"cds_start": 589,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 833,
"cdna_end": null,
"cdna_length": 2667,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
"hgvs_c": "c.589T>C",
"hgvs_p": "p.Cys197Arg",
"transcript": "NM_001319088.2",
"protein_id": "NP_001306017.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 803,
"cds_start": 589,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 898,
"cdna_end": null,
"cdna_length": 2732,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
"hgvs_c": "c.589T>C",
"hgvs_p": "p.Cys197Arg",
"transcript": "NM_001319089.2",
"protein_id": "NP_001306018.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 803,
"cds_start": 589,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 755,
"cdna_end": null,
"cdna_length": 2589,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
"hgvs_c": "c.589T>C",
"hgvs_p": "p.Cys197Arg",
"transcript": "NM_001319090.2",
"protein_id": "NP_001306019.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 803,
"cds_start": 589,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 775,
"cdna_end": null,
"cdna_length": 2609,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
"hgvs_c": "c.589T>C",
"hgvs_p": "p.Cys197Arg",
"transcript": "NM_001388168.1",
"protein_id": "NP_001375097.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 803,
"cds_start": 589,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 771,
"cdna_end": null,
"cdna_length": 2605,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
"hgvs_c": "c.589T>C",
"hgvs_p": "p.Cys197Arg",
"transcript": "NM_001388169.1",
"protein_id": "NP_001375098.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 803,
"cds_start": 589,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 793,
"cdna_end": null,
"cdna_length": 2627,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
"hgvs_c": "c.589T>C",
"hgvs_p": "p.Cys197Arg",
"transcript": "NM_001388170.1",
"protein_id": "NP_001375099.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 803,
"cds_start": 589,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 907,
"cdna_end": null,
"cdna_length": 2741,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
"hgvs_c": "c.589T>C",
"hgvs_p": "p.Cys197Arg",
"transcript": "NM_001388171.1",
"protein_id": "NP_001375100.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 803,
"cds_start": 589,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 944,
"cdna_end": null,
"cdna_length": 2778,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
"hgvs_c": "c.589T>C",
"hgvs_p": "p.Cys197Arg",
"transcript": "NM_001388172.1",
"protein_id": "NP_001375101.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 803,
"cds_start": 589,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 953,
"cdna_end": null,
"cdna_length": 2787,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
"hgvs_c": "c.589T>C",
"hgvs_p": "p.Cys197Arg",
"transcript": "NM_016444.3",
"protein_id": "NP_057528.2",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 803,
"cds_start": 589,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 1011,
"cdna_end": null,
"cdna_length": 2845,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
"hgvs_c": "c.481T>C",
"hgvs_p": "p.Cys161Arg",
"transcript": "NM_001388178.1",
"protein_id": "NP_001375107.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 767,
"cds_start": 481,
"cds_end": null,
"cds_length": 2304,
"cdna_start": 725,
"cdna_end": null,
"cdna_length": 2559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
"hgvs_c": "c.589T>C",
"hgvs_p": "p.Cys197Arg",
"transcript": "XM_006723367.4",
"protein_id": "XP_006723430.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 803,
"cds_start": 589,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 933,
"cdna_end": null,
"cdna_length": 2767,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
"hgvs_c": "c.589T>C",
"hgvs_p": "p.Cys197Arg",
"transcript": "XM_006723368.4",
"protein_id": "XP_006723431.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 803,
"cds_start": 589,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 819,
"cdna_end": null,
"cdna_length": 2653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
"hgvs_c": "c.589T>C",
"hgvs_p": "p.Cys197Arg",
"transcript": "XM_047439374.1",
"protein_id": "XP_047295330.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 803,
"cds_start": 589,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 1182,
"cdna_end": null,
"cdna_length": 3016,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
"hgvs_c": "n.729T>C",
"hgvs_p": null,
"transcript": "XR_002958356.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10563,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
"hgvs_c": "n.729T>C",
"hgvs_p": null,
"transcript": "XR_002958357.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10406,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
"hgvs_c": "n.729T>C",
"hgvs_p": null,
"transcript": "XR_007066992.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 24214,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
"hgvs_c": "n.729T>C",
"hgvs_p": null,
"transcript": "XR_007066994.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12839,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
"hgvs_c": "n.729T>C",
"hgvs_p": null,
"transcript": "XR_007066995.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 24211,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
"hgvs_c": "n.729T>C",
"hgvs_p": null,
"transcript": "XR_007066996.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10596,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
"hgvs_c": "n.729T>C",
"hgvs_p": null,
"transcript": "XR_007066997.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10409,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
"hgvs_c": "n.729T>C",
"hgvs_p": null,
"transcript": "XR_007066998.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10256,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
"hgvs_c": "c.*208T>C",
"hgvs_p": null,
"transcript": "ENST00000590578.5",
"protein_id": "ENSP00000468779.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 126,
"cds_start": -4,
"cds_end": null,
"cds_length": 381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 548,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
"hgvs_c": "c.*130T>C",
"hgvs_p": null,
"transcript": "ENST00000590524.1",
"protein_id": "ENSP00000467766.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 152,
"cds_start": -4,
"cds_end": null,
"cds_length": 459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 616,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
"hgvs_c": "c.*172T>C",
"hgvs_p": null,
"transcript": "ENST00000588127.5",
"protein_id": "ENSP00000466141.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 138,
"cds_start": -4,
"cds_end": null,
"cds_length": 417,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
"hgvs_c": "c.*139T>C",
"hgvs_p": null,
"transcript": "ENST00000585678.5",
"protein_id": "ENSP00000465043.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 113,
"cds_start": -4,
"cds_end": null,
"cds_length": 342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
"dbsnp": "rs374027023",
"frequency_reference_population": 0.00013014958,
"hom_count_reference_population": 1,
"allele_count_reference_population": 210,
"gnomad_exomes_af": 0.000127963,
"gnomad_genomes_af": 0.000151151,
"gnomad_exomes_ac": 187,
"gnomad_genomes_ac": 23,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06280121207237244,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.029,
"revel_prediction": "Benign",
"alphamissense_score": 0.0947,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.7,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.451,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000337433.10",
"gene_symbol": "ZNF226",
"hgnc_id": 13019,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.589T>C",
"hgvs_p": "p.Cys197Arg"
}
],
"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
}