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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: 11-32434775-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=32434775&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 32434775,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_024426.6",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "c.586G>A",
"hgvs_p": "p.Gly196Ser",
"transcript": "NM_024426.6",
"protein_id": "NP_077744.4",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 522,
"cds_start": 586,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 765,
"cdna_end": null,
"cdna_length": 3031,
"mane_select": "ENST00000452863.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "c.586G>A",
"hgvs_p": "p.Gly196Ser",
"transcript": "ENST00000452863.10",
"protein_id": "ENSP00000415516.5",
"transcript_support_level": 1,
"aa_start": 196,
"aa_end": null,
"aa_length": 522,
"cds_start": 586,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 765,
"cdna_end": null,
"cdna_length": 3031,
"mane_select": "NM_024426.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "c.586G>A",
"hgvs_p": "p.Gly196Ser",
"transcript": "ENST00000639563.4",
"protein_id": "ENSP00000492269.3",
"transcript_support_level": 1,
"aa_start": 196,
"aa_end": null,
"aa_length": 505,
"cds_start": 586,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 765,
"cdna_end": null,
"cdna_length": 2980,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "c.586G>A",
"hgvs_p": "p.Gly196Ser",
"transcript": "ENST00000332351.9",
"protein_id": "ENSP00000331327.5",
"transcript_support_level": 1,
"aa_start": 196,
"aa_end": null,
"aa_length": 502,
"cds_start": 586,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 790,
"cdna_end": null,
"cdna_length": 2987,
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "n.586G>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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3186,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "c.586G>A",
"hgvs_p": "p.Gly196Ser",
"transcript": "NM_024424.5",
"protein_id": "NP_077742.3",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 519,
"cds_start": 586,
"cds_end": null,
"cds_length": 1560,
"cdna_start": 765,
"cdna_end": null,
"cdna_length": 3022,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "c.586G>A",
"hgvs_p": "p.Gly196Ser",
"transcript": "ENST00000448076.9",
"protein_id": "ENSP00000413452.5",
"transcript_support_level": 2,
"aa_start": 196,
"aa_end": null,
"aa_length": 519,
"cds_start": 586,
"cds_end": null,
"cds_length": 1560,
"cdna_start": 761,
"cdna_end": null,
"cdna_length": 2114,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "c.586G>A",
"hgvs_p": "p.Gly196Ser",
"transcript": "NM_001407044.1",
"protein_id": "NP_001393973.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 517,
"cds_start": 586,
"cds_end": null,
"cds_length": 1554,
"cdna_start": 765,
"cdna_end": null,
"cdna_length": 3016,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "c.586G>A",
"hgvs_p": "p.Gly196Ser",
"transcript": "NM_001407045.1",
"protein_id": "NP_001393974.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 505,
"cds_start": 586,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 765,
"cdna_end": null,
"cdna_length": 2980,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "c.586G>A",
"hgvs_p": "p.Gly196Ser",
"transcript": "NM_000378.6",
"protein_id": "NP_000369.4",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 502,
"cds_start": 586,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 765,
"cdna_end": null,
"cdna_length": 2971,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "c.586G>A",
"hgvs_p": "p.Gly196Ser",
"transcript": "NM_001407046.1",
"protein_id": "NP_001393975.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 491,
"cds_start": 586,
"cds_end": null,
"cds_length": 1476,
"cdna_start": 765,
"cdna_end": null,
"cdna_length": 2938,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "c.586G>A",
"hgvs_p": "p.Gly196Ser",
"transcript": "NM_001407047.1",
"protein_id": "NP_001393976.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 478,
"cds_start": 586,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 765,
"cdna_end": null,
"cdna_length": 2899,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "c.586G>A",
"hgvs_p": "p.Gly196Ser",
"transcript": "NM_001407048.1",
"protein_id": "NP_001393977.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 475,
"cds_start": 586,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 765,
"cdna_end": null,
"cdna_length": 2890,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "c.586G>A",
"hgvs_p": "p.Gly196Ser",
"transcript": "NM_001407049.1",
"protein_id": "NP_001393978.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 474,
"cds_start": 586,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 765,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "c.586G>A",
"hgvs_p": "p.Gly196Ser",
"transcript": "NM_001407050.1",
"protein_id": "NP_001393979.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 464,
"cds_start": 586,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 765,
"cdna_end": null,
"cdna_length": 2857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "c.367G>A",
"hgvs_p": "p.Gly123Ser",
"transcript": "NM_001429031.1",
"protein_id": "NP_001415960.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 449,
"cds_start": 367,
"cds_end": null,
"cds_length": 1350,
"cdna_start": 640,
"cdna_end": null,
"cdna_length": 2906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "c.367G>A",
"hgvs_p": "p.Gly123Ser",
"transcript": "NM_001429032.1",
"protein_id": "NP_001415961.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 446,
"cds_start": 367,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 640,
"cdna_end": null,
"cdna_length": 2897,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "c.367G>A",
"hgvs_p": "p.Gly123Ser",
"transcript": "ENST00000850608.1",
"protein_id": "ENSP00000520896.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 446,
"cds_start": 367,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 765,
"cdna_end": null,
"cdna_length": 3022,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "c.367G>A",
"hgvs_p": "p.Gly123Ser",
"transcript": "NM_001429033.1",
"protein_id": "NP_001415962.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 432,
"cds_start": 367,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 640,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "c.367G>A",
"hgvs_p": "p.Gly123Ser",
"transcript": "ENST00000850609.1",
"protein_id": "ENSP00000520897.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 432,
"cds_start": 367,
"cds_end": null,
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"cdna_start": 765,
"cdna_end": null,
"cdna_length": 2980,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "c.367G>A",
"hgvs_p": "p.Gly123Ser",
"transcript": "NM_001429034.1",
"protein_id": "NP_001415963.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 429,
"cds_start": 367,
"cds_end": null,
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"cdna_start": 640,
"cdna_end": null,
"cdna_length": 2846,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "c.367G>A",
"hgvs_p": "p.Gly123Ser",
"transcript": "ENST00000850606.1",
"protein_id": "ENSP00000520894.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 429,
"cds_start": 367,
"cds_end": null,
"cds_length": 1290,
"cdna_start": 765,
"cdna_end": null,
"cdna_length": 2962,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "c.367G>A",
"hgvs_p": "p.Gly123Ser",
"transcript": "ENST00000850610.1",
"protein_id": "ENSP00000520898.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 429,
"cds_start": 367,
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},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 9,
"intron_rank": null,
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"transcript": "ENST00000651459.3",
"protein_id": "ENSP00000498574.3",
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
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"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "WT1",
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"hgvs_c": "n.765G>A",
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"transcript": "NR_160306.1",
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"aa_length": null,
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"feature": null
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 9,
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"gene_symbol": "WT1",
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"hgvs_c": "n.765G>A",
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"transcript": "NR_176266.1",
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"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3124,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"dbsnp": "rs756501972",
"frequency_reference_population": 0.0000049605696,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000479328,
"gnomad_genomes_af": 0.00000656426,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.13094687461853027,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.195,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.27,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.635,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BP6,BS2_Supporting",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6",
"BS2_Supporting"
],
"verdict": "Likely_benign",
"transcript": "NM_024426.6",
"gene_symbol": "WT1",
"hgnc_id": 12796,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.586G>A",
"hgvs_p": "p.Gly196Ser"
}
],
"clinvar_disease": "11p partial monosomy syndrome,Drash syndrome,Frasier syndrome,Inborn genetic diseases,Wilms tumor 1,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:3 B:1",
"phenotype_combined": "Drash syndrome;Frasier syndrome;Wilms tumor 1;11p partial monosomy syndrome|Inborn genetic diseases|Drash syndrome|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}