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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: 5-171868672-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=171868672&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 171868672,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001378974.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXW11",
"gene_hgnc_id": 13607,
"hgvs_c": "c.1655G>A",
"hgvs_p": "p.Arg552His",
"transcript": "NM_001378974.1",
"protein_id": "NP_001365903.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 563,
"cds_start": 1655,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000517395.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378974.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXW11",
"gene_hgnc_id": 13607,
"hgvs_c": "c.1655G>A",
"hgvs_p": "p.Arg552His",
"transcript": "ENST00000517395.6",
"protein_id": "ENSP00000428753.2",
"transcript_support_level": 3,
"aa_start": 552,
"aa_end": null,
"aa_length": 563,
"cds_start": 1655,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001378974.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000517395.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXW11",
"gene_hgnc_id": 13607,
"hgvs_c": "c.1592G>A",
"hgvs_p": "p.Arg531His",
"transcript": "ENST00000265094.9",
"protein_id": "ENSP00000265094.5",
"transcript_support_level": 1,
"aa_start": 531,
"aa_end": null,
"aa_length": 542,
"cds_start": 1592,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265094.9"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXW11",
"gene_hgnc_id": 13607,
"hgvs_c": "c.1553G>A",
"hgvs_p": "p.Arg518His",
"transcript": "ENST00000296933.10",
"protein_id": "ENSP00000296933.6",
"transcript_support_level": 1,
"aa_start": 518,
"aa_end": null,
"aa_length": 529,
"cds_start": 1553,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000296933.10"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXW11",
"gene_hgnc_id": 13607,
"hgvs_c": "c.1490G>A",
"hgvs_p": "p.Arg497His",
"transcript": "ENST00000393802.6",
"protein_id": "ENSP00000377391.2",
"transcript_support_level": 1,
"aa_start": 497,
"aa_end": null,
"aa_length": 508,
"cds_start": 1490,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393802.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXW11",
"gene_hgnc_id": 13607,
"hgvs_c": "c.1655G>A",
"hgvs_p": "p.Arg552His",
"transcript": "ENST00000962353.1",
"protein_id": "ENSP00000632412.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 563,
"cds_start": 1655,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962353.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXW11",
"gene_hgnc_id": 13607,
"hgvs_c": "c.1592G>A",
"hgvs_p": "p.Arg531His",
"transcript": "NM_012300.3",
"protein_id": "NP_036432.2",
"transcript_support_level": null,
"aa_start": 531,
"aa_end": null,
"aa_length": 542,
"cds_start": 1592,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012300.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXW11",
"gene_hgnc_id": 13607,
"hgvs_c": "c.1592G>A",
"hgvs_p": "p.Arg531His",
"transcript": "ENST00000873749.1",
"protein_id": "ENSP00000543808.1",
"transcript_support_level": null,
"aa_start": 531,
"aa_end": null,
"aa_length": 542,
"cds_start": 1592,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873749.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXW11",
"gene_hgnc_id": 13607,
"hgvs_c": "c.1586G>A",
"hgvs_p": "p.Arg529His",
"transcript": "NM_001378975.1",
"protein_id": "NP_001365904.1",
"transcript_support_level": null,
"aa_start": 529,
"aa_end": null,
"aa_length": 540,
"cds_start": 1586,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378975.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXW11",
"gene_hgnc_id": 13607,
"hgvs_c": "c.1559G>A",
"hgvs_p": "p.Arg520His",
"transcript": "NM_001378976.1",
"protein_id": "NP_001365905.1",
"transcript_support_level": null,
"aa_start": 520,
"aa_end": null,
"aa_length": 531,
"cds_start": 1559,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378976.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXW11",
"gene_hgnc_id": 13607,
"hgvs_c": "c.1553G>A",
"hgvs_p": "p.Arg518His",
"transcript": "NM_033644.3",
"protein_id": "NP_387448.2",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 529,
"cds_start": 1553,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033644.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXW11",
"gene_hgnc_id": 13607,
"hgvs_c": "c.1553G>A",
"hgvs_p": "p.Arg518His",
"transcript": "ENST00000873746.1",
"protein_id": "ENSP00000543805.1",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 529,
"cds_start": 1553,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873746.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXW11",
"gene_hgnc_id": 13607,
"hgvs_c": "c.1553G>A",
"hgvs_p": "p.Arg518His",
"transcript": "ENST00000873748.1",
"protein_id": "ENSP00000543807.1",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 529,
"cds_start": 1553,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873748.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXW11",
"gene_hgnc_id": 13607,
"hgvs_c": "c.1550G>A",
"hgvs_p": "p.Arg517His",
"transcript": "ENST00000940682.1",
"protein_id": "ENSP00000610741.1",
"transcript_support_level": null,
"aa_start": 517,
"aa_end": null,
"aa_length": 528,
"cds_start": 1550,
"cds_end": null,
"cds_length": 1587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940682.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXW11",
"gene_hgnc_id": 13607,
"hgvs_c": "c.1550G>A",
"hgvs_p": "p.Arg517His",
"transcript": "ENST00000962351.1",
"protein_id": "ENSP00000632410.1",
"transcript_support_level": null,
"aa_start": 517,
"aa_end": null,
"aa_length": 528,
"cds_start": 1550,
"cds_end": null,
"cds_length": 1587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962351.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXW11",
"gene_hgnc_id": 13607,
"hgvs_c": "c.1496G>A",
"hgvs_p": "p.Arg499His",
"transcript": "NM_001378977.1",
"protein_id": "NP_001365906.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 510,
"cds_start": 1496,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378977.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXW11",
"gene_hgnc_id": 13607,
"hgvs_c": "c.1496G>A",
"hgvs_p": "p.Arg499His",
"transcript": "NM_001378978.1",
"protein_id": "NP_001365907.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 510,
"cds_start": 1496,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378978.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXW11",
"gene_hgnc_id": 13607,
"hgvs_c": "c.1496G>A",
"hgvs_p": "p.Arg499His",
"transcript": "NM_001378979.1",
"protein_id": "NP_001365908.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 510,
"cds_start": 1496,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378979.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXW11",
"gene_hgnc_id": 13607,
"hgvs_c": "c.1490G>A",
"hgvs_p": "p.Arg497His",
"transcript": "NM_001378980.1",
"protein_id": "NP_001365909.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 508,
"cds_start": 1490,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378980.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXW11",
"gene_hgnc_id": 13607,
"hgvs_c": "c.1490G>A",
"hgvs_p": "p.Arg497His",
"transcript": "NM_033645.3",
"protein_id": "NP_387449.2",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 508,
"cds_start": 1490,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033645.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXW11",
"gene_hgnc_id": 13607,
"hgvs_c": "c.1490G>A",
"hgvs_p": "p.Arg497His",
"transcript": "ENST00000873747.1",
"protein_id": "ENSP00000543806.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 508,
"cds_start": 1490,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873747.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXW11",
"gene_hgnc_id": 13607,
"hgvs_c": "c.1490G>A",
"hgvs_p": "p.Arg497His",
"transcript": "ENST00000962352.1",
"protein_id": "ENSP00000632411.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 508,
"cds_start": 1490,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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{
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{
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{
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{
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{
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{
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"feature": "XM_005265857.2"
},
{
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"strand": false,
"consequences": [
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],
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"gene_symbol": "FBXW11",
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"transcript": "XM_047417023.1",
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{
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"protein_coding": false,
"strand": false,
"consequences": [
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],
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"biotype": "pseudogene",
"feature": "ENST00000522376.1"
},
{
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],
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"biotype": "nonsense_mediated_decay",
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{
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"3_prime_UTR_variant"
],
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"feature": "ENST00000523843.5"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
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"exon_count": 2,
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"gene_symbol": "FBXW11",
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"hgvs_c": "n.-10G>A",
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"transcript": "ENST00000518106.1",
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"cdna_start": null,
"cdna_end": null,
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"biotype": "pseudogene",
"feature": "ENST00000518106.1"
}
],
"gene_symbol": "FBXW11",
"gene_hgnc_id": 13607,
"dbsnp": "rs761604414",
"frequency_reference_population": 0.00000867666,
"hom_count_reference_population": 0,
"allele_count_reference_population": 14,
"gnomad_exomes_af": 0.00000889548,
"gnomad_genomes_af": 0.00000657428,
"gnomad_exomes_ac": 13,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3413943648338318,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.296,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2399,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.02,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.816,
"phylop100way_prediction": "Pathogenic",
"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": "PP2,BP4,BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 5,
"pathogenic_score": 1,
"criteria": [
"PP2",
"BP4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001378974.1",
"gene_symbol": "FBXW11",
"hgnc_id": 13607,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1655G>A",
"hgvs_p": "p.Arg552His"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not provided|not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}