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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: 11-32434938-A-AGGC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=32434938&ref=A&alt=AGGC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 32434938,
"ref": "A",
"alt": "AGGC",
"effect": "disruptive_inframe_insertion",
"transcript": "ENST00000452863.10",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "PP",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"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.420_422dupGCC",
"hgvs_p": "p.Pro141dup",
"transcript": "NM_024426.6",
"protein_id": "NP_077744.4",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 522,
"cds_start": 422,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 601,
"cdna_end": null,
"cdna_length": 3031,
"mane_select": "ENST00000452863.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "PP",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"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.420_422dupGCC",
"hgvs_p": "p.Pro141dup",
"transcript": "ENST00000452863.10",
"protein_id": "ENSP00000415516.5",
"transcript_support_level": 1,
"aa_start": 141,
"aa_end": null,
"aa_length": 522,
"cds_start": 422,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 601,
"cdna_end": null,
"cdna_length": 3031,
"mane_select": "NM_024426.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "PP",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"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.420_422dupGCC",
"hgvs_p": "p.Pro141dup",
"transcript": "ENST00000639563.4",
"protein_id": "ENSP00000492269.3",
"transcript_support_level": 1,
"aa_start": 141,
"aa_end": null,
"aa_length": 505,
"cds_start": 422,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 601,
"cdna_end": null,
"cdna_length": 2980,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "PP",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"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.420_422dupGCC",
"hgvs_p": "p.Pro141dup",
"transcript": "ENST00000332351.9",
"protein_id": "ENSP00000331327.5",
"transcript_support_level": 1,
"aa_start": 141,
"aa_end": null,
"aa_length": 502,
"cds_start": 422,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 626,
"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.420_422dupGCC",
"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": "P",
"aa_alt": "PP",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"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.420_422dupGCC",
"hgvs_p": "p.Pro141dup",
"transcript": "NM_024424.5",
"protein_id": "NP_077742.3",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 519,
"cds_start": 422,
"cds_end": null,
"cds_length": 1560,
"cdna_start": 601,
"cdna_end": null,
"cdna_length": 3022,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "PP",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"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.420_422dupGCC",
"hgvs_p": "p.Pro141dup",
"transcript": "ENST00000448076.9",
"protein_id": "ENSP00000413452.5",
"transcript_support_level": 2,
"aa_start": 141,
"aa_end": null,
"aa_length": 519,
"cds_start": 422,
"cds_end": null,
"cds_length": 1560,
"cdna_start": 597,
"cdna_end": null,
"cdna_length": 2114,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "PP",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"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.420_422dupGCC",
"hgvs_p": "p.Pro141dup",
"transcript": "NM_001407044.1",
"protein_id": "NP_001393973.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 517,
"cds_start": 422,
"cds_end": null,
"cds_length": 1554,
"cdna_start": 601,
"cdna_end": null,
"cdna_length": 3016,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "PP",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"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.420_422dupGCC",
"hgvs_p": "p.Pro141dup",
"transcript": "NM_001407045.1",
"protein_id": "NP_001393974.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 505,
"cds_start": 422,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 601,
"cdna_end": null,
"cdna_length": 2980,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "PP",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"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.420_422dupGCC",
"hgvs_p": "p.Pro141dup",
"transcript": "NM_000378.6",
"protein_id": "NP_000369.4",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 502,
"cds_start": 422,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 601,
"cdna_end": null,
"cdna_length": 2971,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "PP",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"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.420_422dupGCC",
"hgvs_p": "p.Pro141dup",
"transcript": "NM_001407046.1",
"protein_id": "NP_001393975.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 491,
"cds_start": 422,
"cds_end": null,
"cds_length": 1476,
"cdna_start": 601,
"cdna_end": null,
"cdna_length": 2938,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "PP",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"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.420_422dupGCC",
"hgvs_p": "p.Pro141dup",
"transcript": "NM_001407047.1",
"protein_id": "NP_001393976.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 478,
"cds_start": 422,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 601,
"cdna_end": null,
"cdna_length": 2899,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "PP",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"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.420_422dupGCC",
"hgvs_p": "p.Pro141dup",
"transcript": "NM_001407048.1",
"protein_id": "NP_001393977.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 475,
"cds_start": 422,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 601,
"cdna_end": null,
"cdna_length": 2890,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "PP",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"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.420_422dupGCC",
"hgvs_p": "p.Pro141dup",
"transcript": "NM_001407049.1",
"protein_id": "NP_001393978.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 474,
"cds_start": 422,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 601,
"cdna_end": null,
"cdna_length": 2887,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "PP",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"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.420_422dupGCC",
"hgvs_p": "p.Pro141dup",
"transcript": "NM_001407050.1",
"protein_id": "NP_001393979.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 464,
"cds_start": 422,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 601,
"cdna_end": null,
"cdna_length": 2857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "PP",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"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.201_203dupGCC",
"hgvs_p": "p.Pro68dup",
"transcript": "NM_001429031.1",
"protein_id": "NP_001415960.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 449,
"cds_start": 203,
"cds_end": null,
"cds_length": 1350,
"cdna_start": 476,
"cdna_end": null,
"cdna_length": 2906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "PP",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"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.201_203dupGCC",
"hgvs_p": "p.Pro68dup",
"transcript": "NM_001429032.1",
"protein_id": "NP_001415961.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 446,
"cds_start": 203,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 476,
"cdna_end": null,
"cdna_length": 2897,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "PP",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"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.201_203dupGCC",
"hgvs_p": "p.Pro68dup",
"transcript": "ENST00000850608.1",
"protein_id": "ENSP00000520896.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 446,
"cds_start": 203,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 601,
"cdna_end": null,
"cdna_length": 3022,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "PP",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"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.201_203dupGCC",
"hgvs_p": "p.Pro68dup",
"transcript": "NM_001429033.1",
"protein_id": "NP_001415962.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 432,
"cds_start": 203,
"cds_end": null,
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"cdna_start": 476,
"cdna_end": null,
"cdna_length": 2855,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "PP",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"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.201_203dupGCC",
"hgvs_p": "p.Pro68dup",
"transcript": "ENST00000850609.1",
"protein_id": "ENSP00000520897.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 432,
"cds_start": 203,
"cds_end": null,
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"cdna_start": 601,
"cdna_end": null,
"cdna_length": 2980,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "PP",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"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.201_203dupGCC",
"hgvs_p": "p.Pro68dup",
"transcript": "NM_001429034.1",
"protein_id": "NP_001415963.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 429,
"cds_start": 203,
"cds_end": null,
"cds_length": 1290,
"cdna_start": 476,
"cdna_end": null,
"cdna_length": 2846,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "PP",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"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.201_203dupGCC",
"hgvs_p": "p.Pro68dup",
"transcript": "ENST00000850606.1",
"protein_id": "ENSP00000520894.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 429,
"cds_start": 203,
"cds_end": null,
"cds_length": 1290,
"cdna_start": 601,
"cdna_end": null,
"cdna_length": 2962,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "PP",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"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.201_203dupGCC",
"hgvs_p": "p.Pro68dup",
"transcript": "ENST00000850610.1",
"protein_id": "ENSP00000520898.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 429,
"cds_start": 203,
"cds_end": null,
"cds_length": 1290,
"cdna_start": 601,
"cdna_end": null,
"cdna_length": 2971,
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "n.420_422dupGCC",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2343,
"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.599_601dupGCC",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3184,
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "n.599_601dupGCC",
"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": -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": "rs760304811",
"frequency_reference_population": 0.000046070818,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.000105044,
"gnomad_genomes_af": 0.0000460708,
"gnomad_exomes_ac": 151,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 8.05,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3,BP3,BP6,BS2_Supporting",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 3,
"pathogenic_score": 1,
"criteria": [
"PP3",
"BP3",
"BP6",
"BS2_Supporting"
],
"verdict": "Likely_benign",
"transcript": "ENST00000452863.10",
"gene_symbol": "WT1",
"hgnc_id": 12796,
"effects": [
"disruptive_inframe_insertion"
],
"inheritance_mode": "AD",
"hgvs_c": "c.420_422dupGCC",
"hgvs_p": "p.Pro141dup"
}
],
"clinvar_disease": "11p partial monosomy syndrome,6 conditions,Drash syndrome,Frasier syndrome,Hereditary cancer-predisposing syndrome,Inborn genetic diseases,Nephroblastoma,WT1-related disorder,Wilms tumor 1,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:4 LB:2",
"phenotype_combined": "Frasier syndrome;Drash syndrome;Wilms tumor 1;11p partial monosomy syndrome|Nephroblastoma|Hereditary cancer-predisposing syndrome|not provided|WT1-related disorder|6 conditions|Inborn genetic diseases",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}