← 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: 20-18465319-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=18465319&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 18465319,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "ENST00000699568.1",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZANK1",
"gene_hgnc_id": 15858,
"hgvs_c": "c.40T>C",
"hgvs_p": "p.Leu14Leu",
"transcript": "NM_001367614.1",
"protein_id": "NP_001354543.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 777,
"cds_start": 40,
"cds_end": null,
"cds_length": 2334,
"cdna_start": 94,
"cdna_end": null,
"cdna_length": 3420,
"mane_select": "ENST00000699568.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZANK1",
"gene_hgnc_id": 15858,
"hgvs_c": "c.40T>C",
"hgvs_p": "p.Leu14Leu",
"transcript": "ENST00000699568.1",
"protein_id": "ENSP00000514442.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 777,
"cds_start": 40,
"cds_end": null,
"cds_length": 2334,
"cdna_start": 94,
"cdna_end": null,
"cdna_length": 3420,
"mane_select": "NM_001367614.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZANK1",
"gene_hgnc_id": 15858,
"hgvs_c": "c.40T>C",
"hgvs_p": "p.Leu14Leu",
"transcript": "ENST00000699590.1",
"protein_id": "ENSP00000514461.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 763,
"cds_start": 40,
"cds_end": null,
"cds_length": 2292,
"cdna_start": 102,
"cdna_end": null,
"cdna_length": 3138,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZANK1",
"gene_hgnc_id": 15858,
"hgvs_c": "c.40T>C",
"hgvs_p": "p.Leu14Leu",
"transcript": "ENST00000699525.1",
"protein_id": "ENSP00000514418.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 758,
"cds_start": 40,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 94,
"cdna_end": null,
"cdna_length": 3363,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZANK1",
"gene_hgnc_id": 15858,
"hgvs_c": "n.40T>C",
"hgvs_p": null,
"transcript": "ENST00000377630.9",
"protein_id": "ENSP00000366857.6",
"transcript_support_level": 2,
"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": 3295,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZANK1",
"gene_hgnc_id": 15858,
"hgvs_c": "n.40T>C",
"hgvs_p": null,
"transcript": "ENST00000460891.5",
"protein_id": "ENSP00000477872.1",
"transcript_support_level": 2,
"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": 3156,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZANK1",
"gene_hgnc_id": 15858,
"hgvs_c": "c.40T>C",
"hgvs_p": "p.Leu14Leu",
"transcript": "NM_001367617.1",
"protein_id": "NP_001354546.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 777,
"cds_start": 40,
"cds_end": null,
"cds_length": 2334,
"cdna_start": 84,
"cdna_end": null,
"cdna_length": 3410,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZANK1",
"gene_hgnc_id": 15858,
"hgvs_c": "c.40T>C",
"hgvs_p": "p.Leu14Leu",
"transcript": "NM_001367618.1",
"protein_id": "NP_001354547.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 777,
"cds_start": 40,
"cds_end": null,
"cds_length": 2334,
"cdna_start": 228,
"cdna_end": null,
"cdna_length": 3554,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZANK1",
"gene_hgnc_id": 15858,
"hgvs_c": "c.40T>C",
"hgvs_p": "p.Leu14Leu",
"transcript": "NM_001351683.4",
"protein_id": "NP_001338612.2",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 771,
"cds_start": 40,
"cds_end": null,
"cds_length": 2316,
"cdna_start": 230,
"cdna_end": null,
"cdna_length": 3538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZANK1",
"gene_hgnc_id": 15858,
"hgvs_c": "c.40T>C",
"hgvs_p": "p.Leu14Leu",
"transcript": "NM_001351684.2",
"protein_id": "NP_001338613.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 771,
"cds_start": 40,
"cds_end": null,
"cds_length": 2316,
"cdna_start": 94,
"cdna_end": null,
"cdna_length": 3402,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZANK1",
"gene_hgnc_id": 15858,
"hgvs_c": "c.40T>C",
"hgvs_p": "p.Leu14Leu",
"transcript": "NM_001367612.1",
"protein_id": "NP_001354541.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 763,
"cds_start": 40,
"cds_end": null,
"cds_length": 2292,
"cdna_start": 94,
"cdna_end": null,
"cdna_length": 3378,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZANK1",
"gene_hgnc_id": 15858,
"hgvs_c": "c.40T>C",
"hgvs_p": "p.Leu14Leu",
"transcript": "NM_001367613.1",
"protein_id": "NP_001354542.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 763,
"cds_start": 40,
"cds_end": null,
"cds_length": 2292,
"cdna_start": 92,
"cdna_end": null,
"cdna_length": 3376,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZANK1",
"gene_hgnc_id": 15858,
"hgvs_c": "c.40T>C",
"hgvs_p": "p.Leu14Leu",
"transcript": "NM_001367611.1",
"protein_id": "NP_001354540.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 758,
"cds_start": 40,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 96,
"cdna_end": null,
"cdna_length": 3365,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZANK1",
"gene_hgnc_id": 15858,
"hgvs_c": "c.40T>C",
"hgvs_p": "p.Leu14Leu",
"transcript": "NM_001099407.2",
"protein_id": "NP_001092877.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 752,
"cds_start": 40,
"cds_end": null,
"cds_length": 2259,
"cdna_start": 94,
"cdna_end": null,
"cdna_length": 3345,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZANK1",
"gene_hgnc_id": 15858,
"hgvs_c": "c.40T>C",
"hgvs_p": "p.Leu14Leu",
"transcript": "ENST00000262547.9",
"protein_id": "ENSP00000262547.5",
"transcript_support_level": 5,
"aa_start": 14,
"aa_end": null,
"aa_length": 752,
"cds_start": 40,
"cds_end": null,
"cds_length": 2259,
"cdna_start": 249,
"cdna_end": null,
"cdna_length": 3498,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZANK1",
"gene_hgnc_id": 15858,
"hgvs_c": "c.40T>C",
"hgvs_p": "p.Leu14Leu",
"transcript": "ENST00000358866.10",
"protein_id": "ENSP00000351734.6",
"transcript_support_level": 5,
"aa_start": 14,
"aa_end": null,
"aa_length": 752,
"cds_start": 40,
"cds_end": null,
"cds_length": 2259,
"cdna_start": 63,
"cdna_end": null,
"cdna_length": 3310,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZANK1",
"gene_hgnc_id": 15858,
"hgvs_c": "c.67T>C",
"hgvs_p": "p.Leu23Leu",
"transcript": "XM_011529268.3",
"protein_id": "XP_011527570.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 786,
"cds_start": 67,
"cds_end": null,
"cds_length": 2361,
"cdna_start": 230,
"cdna_end": null,
"cdna_length": 3556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZANK1",
"gene_hgnc_id": 15858,
"hgvs_c": "c.40T>C",
"hgvs_p": "p.Leu14Leu",
"transcript": "XM_011529272.3",
"protein_id": "XP_011527574.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 777,
"cds_start": 40,
"cds_end": null,
"cds_length": 2334,
"cdna_start": 226,
"cdna_end": null,
"cdna_length": 3552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZANK1",
"gene_hgnc_id": 15858,
"hgvs_c": "c.40T>C",
"hgvs_p": "p.Leu14Leu",
"transcript": "XM_017027910.2",
"protein_id": "XP_016883399.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 777,
"cds_start": 40,
"cds_end": null,
"cds_length": 2334,
"cdna_start": 96,
"cdna_end": null,
"cdna_length": 3422,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZANK1",
"gene_hgnc_id": 15858,
"hgvs_c": "c.40T>C",
"hgvs_p": "p.Leu14Leu",
"transcript": "XM_017027911.2",
"protein_id": "XP_016883400.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 777,
"cds_start": 40,
"cds_end": null,
"cds_length": 2334,
"cdna_start": 92,
"cdna_end": null,
"cdna_length": 3418,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZANK1",
"gene_hgnc_id": 15858,
"hgvs_c": "c.76T>C",
"hgvs_p": "p.Leu26Leu",
"transcript": "XM_017027912.3",
"protein_id": "XP_016883401.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 775,
"cds_start": 76,
"cds_end": null,
"cds_length": 2328,
"cdna_start": 955,
"cdna_end": null,
"cdna_length": 4239,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZANK1",
"gene_hgnc_id": 15858,
"hgvs_c": "c.40T>C",
"hgvs_p": "p.Leu14Leu",
"transcript": "XM_047440248.1",
"protein_id": "XP_047296204.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 771,
"cds_start": 40,
"cds_end": null,
"cds_length": 2316,
"cdna_start": 96,
"cdna_end": null,
"cdna_length": 3404,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZANK1",
"gene_hgnc_id": 15858,
"hgvs_c": "c.76T>C",
"hgvs_p": "p.Leu26Leu",
"transcript": "XM_017027913.3",
"protein_id": "XP_016883402.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 770,
"cds_start": 76,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 955,
"cdna_end": null,
"cdna_length": 4224,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZANK1",
"gene_hgnc_id": 15858,
"hgvs_c": "c.67T>C",
"hgvs_p": "p.Leu23Leu",
"transcript": "XM_047440249.1",
"protein_id": "XP_047296205.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 767,
"cds_start": 67,
"cds_end": null,
"cds_length": 2304,
"cdna_start": 230,
"cdna_end": null,
"cdna_length": 3499,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZANK1",
"gene_hgnc_id": 15858,
"hgvs_c": "c.67T>C",
"hgvs_p": "p.Leu23Leu",
"transcript": "XM_047440250.1",
"protein_id": "XP_047296206.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 761,
"cds_start": 67,
"cds_end": null,
"cds_length": 2286,
"cdna_start": 230,
"cdna_end": null,
"cdna_length": 3481,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZANK1",
"gene_hgnc_id": 15858,
"hgvs_c": "c.40T>C",
"hgvs_p": "p.Leu14Leu",
"transcript": "XM_017027915.3",
"protein_id": "XP_016883404.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 758,
"cds_start": 40,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 92,
"cdna_end": null,
"cdna_length": 3361,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZANK1",
"gene_hgnc_id": 15858,
"hgvs_c": "c.40T>C",
"hgvs_p": "p.Leu14Leu",
"transcript": "XM_047440251.1",
"protein_id": "XP_047296207.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 752,
"cds_start": 40,
"cds_end": null,
"cds_length": 2259,
"cdna_start": 96,
"cdna_end": null,
"cdna_length": 3347,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZANK1",
"gene_hgnc_id": 15858,
"hgvs_c": "c.76T>C",
"hgvs_p": "p.Leu26Leu",
"transcript": "XM_017027916.3",
"protein_id": "XP_016883405.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 708,
"cds_start": 76,
"cds_end": null,
"cds_length": 2127,
"cdna_start": 955,
"cdna_end": null,
"cdna_length": 4038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZANK1",
"gene_hgnc_id": 15858,
"hgvs_c": "c.40T>C",
"hgvs_p": "p.Leu14Leu",
"transcript": "XM_006723584.3",
"protein_id": "XP_006723647.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 696,
"cds_start": 40,
"cds_end": null,
"cds_length": 2091,
"cdna_start": 94,
"cdna_end": null,
"cdna_length": 3177,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZANK1",
"gene_hgnc_id": 15858,
"hgvs_c": "c.40T>C",
"hgvs_p": "p.Leu14Leu",
"transcript": "XM_047440253.1",
"protein_id": "XP_047296209.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 418,
"cds_start": 40,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 96,
"cdna_end": null,
"cdna_length": 4072,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZANK1",
"gene_hgnc_id": 15858,
"hgvs_c": "n.40T>C",
"hgvs_p": null,
"transcript": "ENST00000608192.5",
"protein_id": "ENSP00000476391.1",
"transcript_support_level": 2,
"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": 3538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZANK1",
"gene_hgnc_id": 15858,
"hgvs_c": "n.40T>C",
"hgvs_p": null,
"transcript": "ENST00000609267.5",
"protein_id": "ENSP00000477046.1",
"transcript_support_level": 5,
"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": 3145,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZANK1",
"gene_hgnc_id": 15858,
"hgvs_c": "n.40T>C",
"hgvs_p": null,
"transcript": "ENST00000699588.1",
"protein_id": "ENSP00000514460.1",
"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": 3272,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZANK1",
"gene_hgnc_id": 15858,
"hgvs_c": "n.91T>C",
"hgvs_p": null,
"transcript": "ENST00000699589.1",
"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": 3307,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZANK1",
"gene_hgnc_id": 15858,
"hgvs_c": "n.40T>C",
"hgvs_p": null,
"transcript": "ENST00000699591.1",
"protein_id": "ENSP00000514462.1",
"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": 3387,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZANK1",
"gene_hgnc_id": 15858,
"hgvs_c": "n.203T>C",
"hgvs_p": null,
"transcript": "ENST00000699592.1",
"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": 1899,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZANK1",
"gene_hgnc_id": 15858,
"hgvs_c": "n.76T>C",
"hgvs_p": null,
"transcript": "ENST00000699593.1",
"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": 1794,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZANK1",
"gene_hgnc_id": 15858,
"hgvs_c": "n.87T>C",
"hgvs_p": null,
"transcript": "ENST00000699608.1",
"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": 1796,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZANK1",
"gene_hgnc_id": 15858,
"hgvs_c": "n.94T>C",
"hgvs_p": null,
"transcript": "NR_160273.1",
"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": 1787,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZANK1",
"gene_hgnc_id": 15858,
"hgvs_c": "n.94T>C",
"hgvs_p": null,
"transcript": "NR_160274.1",
"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": 1769,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZANK1",
"gene_hgnc_id": 15858,
"hgvs_c": "n.955T>C",
"hgvs_p": null,
"transcript": "XR_007067462.1",
"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": 2878,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZANK1",
"gene_hgnc_id": 15858,
"hgvs_c": "c.-412T>C",
"hgvs_p": null,
"transcript": "NM_001367619.1",
"protein_id": "NP_001354548.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 638,
"cds_start": -4,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3588,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZANK1",
"gene_hgnc_id": 15858,
"hgvs_c": "c.-412T>C",
"hgvs_p": null,
"transcript": "NM_018152.3",
"protein_id": "NP_060622.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 585,
"cds_start": -4,
"cds_end": null,
"cds_length": 1758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3295,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DZANK1",
"gene_hgnc_id": 15858,
"dbsnp": "rs6035051",
"frequency_reference_population": 0.5589046,
"hom_count_reference_population": 252319,
"allele_count_reference_population": 897916,
"gnomad_exomes_af": 0.557548,
"gnomad_genomes_af": 0.571899,
"gnomad_exomes_ac": 811040,
"gnomad_genomes_ac": 86876,
"gnomad_exomes_homalt": 227313,
"gnomad_genomes_homalt": 25006,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5799999833106995,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.10000000149011612,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.58,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.695,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.1,
"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": "ENST00000699568.1",
"gene_symbol": "DZANK1",
"hgnc_id": 15858,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.40T>C",
"hgvs_p": "p.Leu14Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}