← 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: 19-53576890-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=53576890&ref=A&alt=G&genome=hg38&allGenes=true"
API Response
json
{
"variants": [
{
"chr": "19",
"pos": 53576890,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "ENST00000449416.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF331",
"gene_hgnc_id": 15489,
"hgvs_c": "c.330A>G",
"hgvs_p": "p.Arg110Arg",
"transcript": "NM_001079906.2",
"protein_id": "NP_001073375.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 463,
"cds_start": 330,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 686,
"cdna_end": null,
"cdna_length": 4065,
"mane_select": "ENST00000449416.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF331",
"gene_hgnc_id": 15489,
"hgvs_c": "c.330A>G",
"hgvs_p": "p.Arg110Arg",
"transcript": "ENST00000449416.6",
"protein_id": "ENSP00000393817.1",
"transcript_support_level": 5,
"aa_start": 110,
"aa_end": null,
"aa_length": 463,
"cds_start": 330,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 686,
"cdna_end": null,
"cdna_length": 4065,
"mane_select": "NM_001079906.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF331",
"gene_hgnc_id": 15489,
"hgvs_c": "c.330A>G",
"hgvs_p": "p.Arg110Arg",
"transcript": "ENST00000253144.13",
"protein_id": "ENSP00000253144.9",
"transcript_support_level": 1,
"aa_start": 110,
"aa_end": null,
"aa_length": 463,
"cds_start": 330,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 1663,
"cdna_end": null,
"cdna_length": 5042,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF331",
"gene_hgnc_id": 15489,
"hgvs_c": "c.330A>G",
"hgvs_p": "p.Arg110Arg",
"transcript": "ENST00000504493.6",
"protein_id": "ENSP00000425517.2",
"transcript_support_level": 1,
"aa_start": 110,
"aa_end": null,
"aa_length": 463,
"cds_start": 330,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 650,
"cdna_end": null,
"cdna_length": 1841,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF331",
"gene_hgnc_id": 15489,
"hgvs_c": "c.330A>G",
"hgvs_p": "p.Arg110Arg",
"transcript": "ENST00000511154.5",
"protein_id": "ENSP00000421014.1",
"transcript_support_level": 1,
"aa_start": 110,
"aa_end": null,
"aa_length": 463,
"cds_start": 330,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 624,
"cdna_end": null,
"cdna_length": 2120,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF331",
"gene_hgnc_id": 15489,
"hgvs_c": "c.330A>G",
"hgvs_p": "p.Arg110Arg",
"transcript": "ENST00000512387.6",
"protein_id": "ENSP00000421728.1",
"transcript_support_level": 1,
"aa_start": 110,
"aa_end": null,
"aa_length": 463,
"cds_start": 330,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 662,
"cdna_end": null,
"cdna_length": 2161,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF331",
"gene_hgnc_id": 15489,
"hgvs_c": "c.330A>G",
"hgvs_p": "p.Arg110Arg",
"transcript": "ENST00000513999.5",
"protein_id": "ENSP00000423156.1",
"transcript_support_level": 1,
"aa_start": 110,
"aa_end": null,
"aa_length": 463,
"cds_start": 330,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 699,
"cdna_end": null,
"cdna_length": 1890,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF331",
"gene_hgnc_id": 15489,
"hgvs_c": "c.330A>G",
"hgvs_p": "p.Arg110Arg",
"transcript": "NM_001079907.1",
"protein_id": "NP_001073376.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 463,
"cds_start": 330,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 772,
"cdna_end": null,
"cdna_length": 4151,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF331",
"gene_hgnc_id": 15489,
"hgvs_c": "c.330A>G",
"hgvs_p": "p.Arg110Arg",
"transcript": "NM_001253798.2",
"protein_id": "NP_001240727.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 463,
"cds_start": 330,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 911,
"cdna_end": null,
"cdna_length": 4290,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF331",
"gene_hgnc_id": 15489,
"hgvs_c": "c.330A>G",
"hgvs_p": "p.Arg110Arg",
"transcript": "NM_001253799.2",
"protein_id": "NP_001240728.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 463,
"cds_start": 330,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 881,
"cdna_end": null,
"cdna_length": 4260,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF331",
"gene_hgnc_id": 15489,
"hgvs_c": "c.330A>G",
"hgvs_p": "p.Arg110Arg",
"transcript": "NM_001253800.3",
"protein_id": "NP_001240729.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 463,
"cds_start": 330,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 900,
"cdna_end": null,
"cdna_length": 4279,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF331",
"gene_hgnc_id": 15489,
"hgvs_c": "c.330A>G",
"hgvs_p": "p.Arg110Arg",
"transcript": "NM_001253801.2",
"protein_id": "NP_001240730.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 463,
"cds_start": 330,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 662,
"cdna_end": null,
"cdna_length": 4041,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF331",
"gene_hgnc_id": 15489,
"hgvs_c": "c.330A>G",
"hgvs_p": "p.Arg110Arg",
"transcript": "NM_001317113.2",
"protein_id": "NP_001304042.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 463,
"cds_start": 330,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 622,
"cdna_end": null,
"cdna_length": 4001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF331",
"gene_hgnc_id": 15489,
"hgvs_c": "c.330A>G",
"hgvs_p": "p.Arg110Arg",
"transcript": "NM_001317114.2",
"protein_id": "NP_001304043.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 463,
"cds_start": 330,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 983,
"cdna_end": null,
"cdna_length": 4362,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF331",
"gene_hgnc_id": 15489,
"hgvs_c": "c.330A>G",
"hgvs_p": "p.Arg110Arg",
"transcript": "NM_001317115.2",
"protein_id": "NP_001304044.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 463,
"cds_start": 330,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 716,
"cdna_end": null,
"cdna_length": 4095,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF331",
"gene_hgnc_id": 15489,
"hgvs_c": "c.330A>G",
"hgvs_p": "p.Arg110Arg",
"transcript": "NM_001317116.2",
"protein_id": "NP_001304045.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 463,
"cds_start": 330,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 529,
"cdna_end": null,
"cdna_length": 3908,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF331",
"gene_hgnc_id": 15489,
"hgvs_c": "c.330A>G",
"hgvs_p": "p.Arg110Arg",
"transcript": "NM_001317117.1",
"protein_id": "NP_001304046.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 463,
"cds_start": 330,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 692,
"cdna_end": null,
"cdna_length": 4071,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF331",
"gene_hgnc_id": 15489,
"hgvs_c": "c.330A>G",
"hgvs_p": "p.Arg110Arg",
"transcript": "NM_001317118.1",
"protein_id": "NP_001304047.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 463,
"cds_start": 330,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 773,
"cdna_end": null,
"cdna_length": 4152,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF331",
"gene_hgnc_id": 15489,
"hgvs_c": "c.330A>G",
"hgvs_p": "p.Arg110Arg",
"transcript": "NM_001317119.1",
"protein_id": "NP_001304048.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 463,
"cds_start": 330,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 742,
"cdna_end": null,
"cdna_length": 4121,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF331",
"gene_hgnc_id": 15489,
"hgvs_c": "c.330A>G",
"hgvs_p": "p.Arg110Arg",
"transcript": "NM_001317120.2",
"protein_id": "NP_001304049.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 463,
"cds_start": 330,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 1635,
"cdna_end": null,
"cdna_length": 5014,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF331",
"gene_hgnc_id": 15489,
"hgvs_c": "c.330A>G",
"hgvs_p": "p.Arg110Arg",
"transcript": "NM_001317121.1",
"protein_id": "NP_001304050.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 463,
"cds_start": 330,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 646,
"cdna_end": null,
"cdna_length": 4025,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF331",
"gene_hgnc_id": 15489,
"hgvs_c": "c.330A>G",
"hgvs_p": "p.Arg110Arg",
"transcript": "NM_018555.6",
"protein_id": "NP_061025.5",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 463,
"cds_start": 330,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 1673,
"cdna_end": null,
"cdna_length": 5052,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF331",
"gene_hgnc_id": 15489,
"hgvs_c": "c.330A>G",
"hgvs_p": "p.Arg110Arg",
"transcript": "ENST00000511593.6",
"protein_id": "ENSP00000427439.1",
"transcript_support_level": 5,
"aa_start": 110,
"aa_end": null,
"aa_length": 463,
"cds_start": 330,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 794,
"cdna_end": null,
"cdna_length": 1985,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF331",
"gene_hgnc_id": 15489,
"hgvs_c": "c.330A>G",
"hgvs_p": "p.Arg110Arg",
"transcript": "ENST00000648122.1",
"protein_id": "ENSP00000496977.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 463,
"cds_start": 330,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 596,
"cdna_end": null,
"cdna_length": 3975,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF331",
"gene_hgnc_id": 15489,
"hgvs_c": "c.330A>G",
"hgvs_p": "p.Arg110Arg",
"transcript": "ENST00000648236.1",
"protein_id": "ENSP00000497263.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 463,
"cds_start": 330,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 1608,
"cdna_end": null,
"cdna_length": 4920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF331",
"gene_hgnc_id": 15489,
"hgvs_c": "c.330A>G",
"hgvs_p": "p.Arg110Arg",
"transcript": "ENST00000648397.1",
"protein_id": "ENSP00000497726.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 463,
"cds_start": 330,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 772,
"cdna_end": null,
"cdna_length": 4151,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF331",
"gene_hgnc_id": 15489,
"hgvs_c": "c.330A>G",
"hgvs_p": "p.Arg110Arg",
"transcript": "ENST00000648511.1",
"protein_id": "ENSP00000497652.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 463,
"cds_start": 330,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 529,
"cdna_end": null,
"cdna_length": 3908,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF331",
"gene_hgnc_id": 15489,
"hgvs_c": "c.330A>G",
"hgvs_p": "p.Arg110Arg",
"transcript": "ENST00000649326.1",
"protein_id": "ENSP00000498006.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 463,
"cds_start": 330,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 1584,
"cdna_end": null,
"cdna_length": 2711,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF331",
"gene_hgnc_id": 15489,
"hgvs_c": "c.330A>G",
"hgvs_p": "p.Arg110Arg",
"transcript": "ENST00000505949.5",
"protein_id": "ENSP00000427532.1",
"transcript_support_level": 5,
"aa_start": 110,
"aa_end": null,
"aa_length": 176,
"cds_start": 330,
"cds_end": null,
"cds_length": 532,
"cdna_start": 559,
"cdna_end": null,
"cdna_length": 761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF331",
"gene_hgnc_id": 15489,
"hgvs_c": "c.330A>G",
"hgvs_p": "p.Arg110Arg",
"transcript": "XM_011527076.4",
"protein_id": "XP_011525378.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 463,
"cds_start": 330,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 2104,
"cdna_end": null,
"cdna_length": 5483,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF331",
"gene_hgnc_id": 15489,
"hgvs_c": "c.330A>G",
"hgvs_p": "p.Arg110Arg",
"transcript": "XM_011527078.4",
"protein_id": "XP_011525380.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 463,
"cds_start": 330,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 1703,
"cdna_end": null,
"cdna_length": 5082,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF331",
"gene_hgnc_id": 15489,
"hgvs_c": "c.330A>G",
"hgvs_p": "p.Arg110Arg",
"transcript": "XM_017026940.2",
"protein_id": "XP_016882429.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 463,
"cds_start": 330,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 817,
"cdna_end": null,
"cdna_length": 4196,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF331",
"gene_hgnc_id": 15489,
"hgvs_c": "c.330A>G",
"hgvs_p": "p.Arg110Arg",
"transcript": "XM_047439049.1",
"protein_id": "XP_047295005.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 463,
"cds_start": 330,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 2296,
"cdna_end": null,
"cdna_length": 5675,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF331",
"gene_hgnc_id": 15489,
"hgvs_c": "c.330A>G",
"hgvs_p": "p.Arg110Arg",
"transcript": "XM_047439050.1",
"protein_id": "XP_047295006.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 463,
"cds_start": 330,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 3301,
"cdna_end": null,
"cdna_length": 6680,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF331",
"gene_hgnc_id": 15489,
"hgvs_c": "c.330A>G",
"hgvs_p": "p.Arg110Arg",
"transcript": "XM_047439051.1",
"protein_id": "XP_047295007.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 463,
"cds_start": 330,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 2406,
"cdna_end": null,
"cdna_length": 5785,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF331",
"gene_hgnc_id": 15489,
"hgvs_c": "c.330A>G",
"hgvs_p": "p.Arg110Arg",
"transcript": "XM_047439053.1",
"protein_id": "XP_047295009.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 463,
"cds_start": 330,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 2837,
"cdna_end": null,
"cdna_length": 6216,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF331",
"gene_hgnc_id": 15489,
"hgvs_c": "c.330A>G",
"hgvs_p": "p.Arg110Arg",
"transcript": "XM_047439054.1",
"protein_id": "XP_047295010.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 463,
"cds_start": 330,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 3331,
"cdna_end": null,
"cdna_length": 6710,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF331",
"gene_hgnc_id": 15489,
"hgvs_c": "c.330A>G",
"hgvs_p": "p.Arg110Arg",
"transcript": "XM_047439055.1",
"protein_id": "XP_047295011.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 463,
"cds_start": 330,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 2312,
"cdna_end": null,
"cdna_length": 5691,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF331",
"gene_hgnc_id": 15489,
"hgvs_c": "c.330A>G",
"hgvs_p": "p.Arg110Arg",
"transcript": "XM_047439056.1",
"protein_id": "XP_047295012.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 463,
"cds_start": 330,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 1609,
"cdna_end": null,
"cdna_length": 4988,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF331",
"gene_hgnc_id": 15489,
"hgvs_c": "c.330A>G",
"hgvs_p": "p.Arg110Arg",
"transcript": "XM_047439057.1",
"protein_id": "XP_047295013.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 463,
"cds_start": 330,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 2394,
"cdna_end": null,
"cdna_length": 5773,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF331",
"gene_hgnc_id": 15489,
"hgvs_c": "c.330A>G",
"hgvs_p": "p.Arg110Arg",
"transcript": "XM_047439058.1",
"protein_id": "XP_047295014.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 463,
"cds_start": 330,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 1620,
"cdna_end": null,
"cdna_length": 4999,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF331",
"gene_hgnc_id": 15489,
"hgvs_c": "c.330A>G",
"hgvs_p": "p.Arg110Arg",
"transcript": "XM_047439059.1",
"protein_id": "XP_047295015.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 463,
"cds_start": 330,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 1732,
"cdna_end": null,
"cdna_length": 5111,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF331",
"gene_hgnc_id": 15489,
"hgvs_c": "c.330A>G",
"hgvs_p": "p.Arg110Arg",
"transcript": "XM_047439060.1",
"protein_id": "XP_047295016.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 463,
"cds_start": 330,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 1620,
"cdna_end": null,
"cdna_length": 4999,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ZNF331",
"gene_hgnc_id": 15489,
"hgvs_c": "c.293+37A>G",
"hgvs_p": null,
"transcript": "ENST00000513265.5",
"protein_id": "ENSP00000426458.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 98,
"cds_start": -4,
"cds_end": null,
"cds_length": 297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000290755",
"gene_hgnc_id": null,
"hgvs_c": "n.376-16151T>C",
"hgvs_p": null,
"transcript": "ENST00000790248.1",
"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": 621,
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF331",
"gene_hgnc_id": 15489,
"hgvs_c": "c.*73A>G",
"hgvs_p": null,
"transcript": "ENST00000502616.5",
"protein_id": "ENSP00000422586.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 84,
"cds_start": -4,
"cds_end": null,
"cds_length": 257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 573,
"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": "ZNF331",
"gene_hgnc_id": 15489,
"hgvs_c": "c.*140A>G",
"hgvs_p": null,
"transcript": "ENST00000502248.5",
"protein_id": "ENSP00000423675.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 62,
"cds_start": -4,
"cds_end": null,
"cds_length": 190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 670,
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF331",
"gene_hgnc_id": 15489,
"hgvs_c": "c.*15A>G",
"hgvs_p": null,
"transcript": "ENST00000511567.5",
"protein_id": "ENSP00000426127.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 104,
"cds_start": -4,
"cds_end": null,
"cds_length": 315,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 540,
"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": "ZNF331",
"gene_hgnc_id": 15489,
"hgvs_c": "c.*31A>G",
"hgvs_p": null,
"transcript": "ENST00000514374.5",
"protein_id": "ENSP00000424835.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 98,
"cds_start": -4,
"cds_end": null,
"cds_length": 299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 574,
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF331",
"gene_hgnc_id": 15489,
"hgvs_c": "c.*137A>G",
"hgvs_p": null,
"transcript": "ENST00000505426.1",
"protein_id": "ENSP00000424929.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 63,
"cds_start": -4,
"cds_end": null,
"cds_length": 193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 688,
"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": "ZNF331",
"gene_hgnc_id": 15489,
"hgvs_c": "c.*189A>G",
"hgvs_p": null,
"transcript": "ENST00000509585.5",
"protein_id": "ENSP00000426155.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 46,
"cds_start": -4,
"cds_end": null,
"cds_length": 141,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ZNF331",
"gene_hgnc_id": 15489,
"dbsnp": "rs8109631",
"frequency_reference_population": 0.71740574,
"hom_count_reference_population": 417751,
"allele_count_reference_population": 1157791,
"gnomad_exomes_af": 0.713865,
"gnomad_genomes_af": 0.751447,
"gnomad_exomes_ac": 1043547,
"gnomad_genomes_ac": 114244,
"gnomad_exomes_homalt": 374103,
"gnomad_genomes_homalt": 43648,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9200000166893005,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.92,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.643,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000449416.6",
"gene_symbol": "ZNF331",
"hgnc_id": 15489,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.330A>G",
"hgvs_p": "p.Arg110Arg"
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000790248.1",
"gene_symbol": "ENSG00000290755",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.376-16151T>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}