← 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: 11-32389064-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=32389064&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 32389064,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_024426.6",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "c.1563G>A",
"hgvs_p": "p.Ala521Ala",
"transcript": "NM_024426.6",
"protein_id": "NP_077744.4",
"transcript_support_level": null,
"aa_start": 521,
"aa_end": null,
"aa_length": 522,
"cds_start": 1563,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000452863.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024426.6"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "c.1563G>A",
"hgvs_p": "p.Ala521Ala",
"transcript": "ENST00000452863.10",
"protein_id": "ENSP00000415516.5",
"transcript_support_level": 1,
"aa_start": 521,
"aa_end": null,
"aa_length": 522,
"cds_start": 1563,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024426.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000452863.10"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "c.1512G>A",
"hgvs_p": "p.Ala504Ala",
"transcript": "ENST00000639563.4",
"protein_id": "ENSP00000492269.3",
"transcript_support_level": 1,
"aa_start": 504,
"aa_end": null,
"aa_length": 505,
"cds_start": 1512,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000639563.4"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "c.1503G>A",
"hgvs_p": "p.Ala501Ala",
"transcript": "ENST00000332351.9",
"protein_id": "ENSP00000331327.5",
"transcript_support_level": 1,
"aa_start": 501,
"aa_end": null,
"aa_length": 502,
"cds_start": 1503,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000332351.9"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "c.903G>A",
"hgvs_p": "p.Ala301Ala",
"transcript": "ENST00000379079.8",
"protein_id": "ENSP00000368370.2",
"transcript_support_level": 1,
"aa_start": 301,
"aa_end": null,
"aa_length": 302,
"cds_start": 903,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379079.8"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "c.888G>A",
"hgvs_p": "p.Ala296Ala",
"transcript": "ENST00000640146.2",
"protein_id": "ENSP00000491984.2",
"transcript_support_level": 1,
"aa_start": 296,
"aa_end": null,
"aa_length": 297,
"cds_start": 888,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000640146.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "n.*747G>A",
"hgvs_p": null,
"transcript": "ENST00000379077.9",
"protein_id": "ENSP00000368368.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000379077.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "n.*747G>A",
"hgvs_p": null,
"transcript": "ENST00000379077.9",
"protein_id": "ENSP00000368368.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000379077.9"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "c.1554G>A",
"hgvs_p": "p.Ala518Ala",
"transcript": "NM_024424.5",
"protein_id": "NP_077742.3",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 519,
"cds_start": 1554,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024424.5"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "c.1554G>A",
"hgvs_p": "p.Ala518Ala",
"transcript": "ENST00000448076.9",
"protein_id": "ENSP00000413452.5",
"transcript_support_level": 2,
"aa_start": 518,
"aa_end": null,
"aa_length": 519,
"cds_start": 1554,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000448076.9"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "c.1548G>A",
"hgvs_p": "p.Ala516Ala",
"transcript": "NM_001407044.1",
"protein_id": "NP_001393973.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 517,
"cds_start": 1548,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407044.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "c.1512G>A",
"hgvs_p": "p.Ala504Ala",
"transcript": "NM_001407045.1",
"protein_id": "NP_001393974.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 505,
"cds_start": 1512,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407045.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "c.1503G>A",
"hgvs_p": "p.Ala501Ala",
"transcript": "NM_000378.6",
"protein_id": "NP_000369.4",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 502,
"cds_start": 1503,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000378.6"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "c.1470G>A",
"hgvs_p": "p.Ala490Ala",
"transcript": "NM_001407046.1",
"protein_id": "NP_001393975.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 491,
"cds_start": 1470,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407046.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "c.1431G>A",
"hgvs_p": "p.Ala477Ala",
"transcript": "NM_001407047.1",
"protein_id": "NP_001393976.1",
"transcript_support_level": null,
"aa_start": 477,
"aa_end": null,
"aa_length": 478,
"cds_start": 1431,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407047.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "c.1422G>A",
"hgvs_p": "p.Ala474Ala",
"transcript": "NM_001407048.1",
"protein_id": "NP_001393977.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 475,
"cds_start": 1422,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407048.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "c.1419G>A",
"hgvs_p": "p.Ala473Ala",
"transcript": "NM_001407049.1",
"protein_id": "NP_001393978.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 474,
"cds_start": 1419,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407049.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "c.1389G>A",
"hgvs_p": "p.Ala463Ala",
"transcript": "NM_001407050.1",
"protein_id": "NP_001393979.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 464,
"cds_start": 1389,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407050.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "c.1344G>A",
"hgvs_p": "p.Ala448Ala",
"transcript": "NM_001429031.1",
"protein_id": "NP_001415960.1",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 449,
"cds_start": 1344,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001429031.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "c.1335G>A",
"hgvs_p": "p.Ala445Ala",
"transcript": "NM_001429032.1",
"protein_id": "NP_001415961.1",
"transcript_support_level": null,
"aa_start": 445,
"aa_end": null,
"aa_length": 446,
"cds_start": 1335,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001429032.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "c.1335G>A",
"hgvs_p": "p.Ala445Ala",
"transcript": "ENST00000850608.1",
"protein_id": "ENSP00000520896.1",
"transcript_support_level": null,
"aa_start": 445,
"aa_end": null,
"aa_length": 446,
"cds_start": 1335,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000850608.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "c.1293G>A",
"hgvs_p": "p.Ala431Ala",
"transcript": "NM_001429033.1",
"protein_id": "NP_001415962.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 432,
"cds_start": 1293,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001429033.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "c.1293G>A",
"hgvs_p": "p.Ala431Ala",
"transcript": "ENST00000850609.1",
"protein_id": "ENSP00000520897.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 432,
"cds_start": 1293,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000850609.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "c.1284G>A",
"hgvs_p": "p.Ala428Ala",
"transcript": "NM_001429034.1",
"protein_id": "NP_001415963.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 429,
"cds_start": 1284,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001429034.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "c.1284G>A",
"hgvs_p": "p.Ala428Ala",
"transcript": "ENST00000850606.1",
"protein_id": "ENSP00000520894.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 429,
"cds_start": 1284,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000850606.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "c.1284G>A",
"hgvs_p": "p.Ala428Ala",
"transcript": "ENST00000850610.1",
"protein_id": "ENSP00000520898.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 429,
"cds_start": 1284,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000850610.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "c.903G>A",
"hgvs_p": "p.Ala301Ala",
"transcript": "NM_001198551.2",
"protein_id": "NP_001185480.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 302,
"cds_start": 903,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001198551.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "c.861G>A",
"hgvs_p": "p.Ala287Ala",
"transcript": "NM_001198552.2",
"protein_id": "NP_001185481.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 288,
"cds_start": 861,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001198552.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "c.861G>A",
"hgvs_p": "p.Ala287Ala",
"transcript": "ENST00000530998.5",
"protein_id": "ENSP00000435307.1",
"transcript_support_level": 2,
"aa_start": 287,
"aa_end": null,
"aa_length": 288,
"cds_start": 861,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000530998.5"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "c.822G>A",
"hgvs_p": "p.Ala274Ala",
"transcript": "ENST00000527882.6",
"protein_id": "ENSP00000435624.2",
"transcript_support_level": 5,
"aa_start": 274,
"aa_end": null,
"aa_length": 275,
"cds_start": 822,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000527882.6"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "c.801G>A",
"hgvs_p": "p.Ala267Ala",
"transcript": "NM_001407051.1",
"protein_id": "NP_001393980.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 268,
"cds_start": 801,
"cds_end": null,
"cds_length": 807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407051.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "c.375G>A",
"hgvs_p": "p.Ala125Ala",
"transcript": "NM_001367854.1",
"protein_id": "NP_001354783.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 126,
"cds_start": 375,
"cds_end": null,
"cds_length": 381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367854.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "n.697G>A",
"hgvs_p": null,
"transcript": "ENST00000639907.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000639907.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "n.1373G>A",
"hgvs_p": null,
"transcript": "ENST00000650745.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000650745.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "n.2135G>A",
"hgvs_p": null,
"transcript": "ENST00000650861.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000650861.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "n.226G>A",
"hgvs_p": null,
"transcript": "ENST00000650986.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000650986.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "n.*203G>A",
"hgvs_p": null,
"transcript": "ENST00000651459.3",
"protein_id": "ENSP00000498574.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000651459.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "n.600G>A",
"hgvs_p": null,
"transcript": "ENST00000651533.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000651533.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "n.500G>A",
"hgvs_p": null,
"transcript": "ENST00000651668.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000651668.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "n.1406G>A",
"hgvs_p": null,
"transcript": "ENST00000651794.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000651794.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "n.488G>A",
"hgvs_p": null,
"transcript": "ENST00000651819.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000651819.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "n.823G>A",
"hgvs_p": null,
"transcript": "ENST00000652579.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000652579.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "n.753G>A",
"hgvs_p": null,
"transcript": "ENST00000652724.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000652724.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "n.1895G>A",
"hgvs_p": null,
"transcript": "NR_160306.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_160306.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "n.1835G>A",
"hgvs_p": null,
"transcript": "NR_176266.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_176266.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "n.*203G>A",
"hgvs_p": null,
"transcript": "ENST00000651459.3",
"protein_id": "ENSP00000498574.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000651459.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"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": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "n.*28G>A",
"hgvs_p": null,
"transcript": "ENST00000526685.2",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000526685.2"
}
],
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"dbsnp": "rs202118284",
"frequency_reference_population": 0.000025399138,
"hom_count_reference_population": 0,
"allele_count_reference_population": 41,
"gnomad_exomes_af": 0.0000259941,
"gnomad_genomes_af": 0.0000196905,
"gnomad_exomes_ac": 38,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.03200000151991844,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.032,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.043,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BS2_Supporting",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BS2_Supporting"
],
"verdict": "Benign",
"transcript": "NM_024426.6",
"gene_symbol": "WT1",
"hgnc_id": 12796,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1563G>A",
"hgvs_p": "p.Ala521Ala"
}
],
"clinvar_disease": "11p partial monosomy syndrome,Drash syndrome,Frasier syndrome,Inborn genetic diseases,WT1-related disorder,Wilms tumor 1",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3",
"phenotype_combined": "Frasier syndrome;Wilms tumor 1;11p partial monosomy syndrome;Drash syndrome|Wilms tumor 1|WT1-related disorder|Inborn genetic diseases",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}