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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: 1-147187081-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=147187081&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 147187081,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001461.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMO5",
"gene_hgnc_id": 3773,
"hgvs_c": "c.1421G>A",
"hgvs_p": "p.Arg474His",
"transcript": "NM_001461.4",
"protein_id": "NP_001452.2",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 533,
"cds_start": 1421,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000254090.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001461.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMO5",
"gene_hgnc_id": 3773,
"hgvs_c": "c.1421G>A",
"hgvs_p": "p.Arg474His",
"transcript": "ENST00000254090.9",
"protein_id": "ENSP00000254090.4",
"transcript_support_level": 1,
"aa_start": 474,
"aa_end": null,
"aa_length": 533,
"cds_start": 1421,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001461.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000254090.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMO5",
"gene_hgnc_id": 3773,
"hgvs_c": "c.*210G>A",
"hgvs_p": null,
"transcript": "ENST00000369272.7",
"protein_id": "ENSP00000358277.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 285,
"cds_start": null,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369272.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "FMO5",
"gene_hgnc_id": 3773,
"hgvs_c": "c.1257-2451G>A",
"hgvs_p": null,
"transcript": "ENST00000441068.6",
"protein_id": "ENSP00000416011.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 464,
"cds_start": null,
"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": "ENST00000441068.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMO5",
"gene_hgnc_id": 3773,
"hgvs_c": "c.1433G>A",
"hgvs_p": "p.Arg478His",
"transcript": "ENST00000865850.1",
"protein_id": "ENSP00000535909.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 537,
"cds_start": 1433,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865850.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMO5",
"gene_hgnc_id": 3773,
"hgvs_c": "c.1433G>A",
"hgvs_p": "p.Arg478His",
"transcript": "ENST00000865857.1",
"protein_id": "ENSP00000535916.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 537,
"cds_start": 1433,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865857.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMO5",
"gene_hgnc_id": 3773,
"hgvs_c": "c.1433G>A",
"hgvs_p": "p.Arg478His",
"transcript": "ENST00000865858.1",
"protein_id": "ENSP00000535917.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 537,
"cds_start": 1433,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865858.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMO5",
"gene_hgnc_id": 3773,
"hgvs_c": "c.1433G>A",
"hgvs_p": "p.Arg478His",
"transcript": "ENST00000942493.1",
"protein_id": "ENSP00000612552.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 537,
"cds_start": 1433,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942493.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMO5",
"gene_hgnc_id": 3773,
"hgvs_c": "c.1433G>A",
"hgvs_p": "p.Arg478His",
"transcript": "ENST00000942494.1",
"protein_id": "ENSP00000612553.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 537,
"cds_start": 1433,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942494.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMO5",
"gene_hgnc_id": 3773,
"hgvs_c": "c.1421G>A",
"hgvs_p": "p.Arg474His",
"transcript": "ENST00000865847.1",
"protein_id": "ENSP00000535906.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 533,
"cds_start": 1421,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865847.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMO5",
"gene_hgnc_id": 3773,
"hgvs_c": "c.1421G>A",
"hgvs_p": "p.Arg474His",
"transcript": "ENST00000865848.1",
"protein_id": "ENSP00000535907.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 533,
"cds_start": 1421,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865848.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMO5",
"gene_hgnc_id": 3773,
"hgvs_c": "c.1421G>A",
"hgvs_p": "p.Arg474His",
"transcript": "ENST00000865849.1",
"protein_id": "ENSP00000535908.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 533,
"cds_start": 1421,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865849.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMO5",
"gene_hgnc_id": 3773,
"hgvs_c": "c.1421G>A",
"hgvs_p": "p.Arg474His",
"transcript": "ENST00000865851.1",
"protein_id": "ENSP00000535910.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 533,
"cds_start": 1421,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865851.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMO5",
"gene_hgnc_id": 3773,
"hgvs_c": "c.1421G>A",
"hgvs_p": "p.Arg474His",
"transcript": "ENST00000865855.1",
"protein_id": "ENSP00000535914.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 533,
"cds_start": 1421,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865855.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMO5",
"gene_hgnc_id": 3773,
"hgvs_c": "c.1421G>A",
"hgvs_p": "p.Arg474His",
"transcript": "ENST00000865859.1",
"protein_id": "ENSP00000535918.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 533,
"cds_start": 1421,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865859.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMO5",
"gene_hgnc_id": 3773,
"hgvs_c": "c.1421G>A",
"hgvs_p": "p.Arg474His",
"transcript": "ENST00000865864.1",
"protein_id": "ENSP00000535923.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 533,
"cds_start": 1421,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865864.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMO5",
"gene_hgnc_id": 3773,
"hgvs_c": "c.1421G>A",
"hgvs_p": "p.Arg474His",
"transcript": "ENST00000865866.1",
"protein_id": "ENSP00000535925.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 533,
"cds_start": 1421,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865866.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMO5",
"gene_hgnc_id": 3773,
"hgvs_c": "c.1421G>A",
"hgvs_p": "p.Arg474His",
"transcript": "ENST00000865868.1",
"protein_id": "ENSP00000535927.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 533,
"cds_start": 1421,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865868.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMO5",
"gene_hgnc_id": 3773,
"hgvs_c": "c.1358G>A",
"hgvs_p": "p.Arg453His",
"transcript": "ENST00000865854.1",
"protein_id": "ENSP00000535913.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 512,
"cds_start": 1358,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865854.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMO5",
"gene_hgnc_id": 3773,
"hgvs_c": "c.1358G>A",
"hgvs_p": "p.Arg453His",
"transcript": "ENST00000865869.1",
"protein_id": "ENSP00000535928.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 512,
"cds_start": 1358,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865869.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMO5",
"gene_hgnc_id": 3773,
"hgvs_c": "c.1232G>A",
"hgvs_p": "p.Arg411His",
"transcript": "ENST00000865852.1",
"protein_id": "ENSP00000535911.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 470,
"cds_start": 1232,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865852.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMO5",
"gene_hgnc_id": 3773,
"hgvs_c": "c.1232G>A",
"hgvs_p": "p.Arg411His",
"transcript": "ENST00000865853.1",
"protein_id": "ENSP00000535912.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 470,
"cds_start": 1232,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"protein_coding": false,
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},
{
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],
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"hgvs_c": "n.967+12496C>T",
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},
{
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"strand": true,
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],
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"exon_count": 3,
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"biotype": "pseudogene",
"feature": "ENST00000782073.1"
},
{
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"protein_coding": false,
"strand": true,
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"intron_variant"
],
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"gene_symbol": "ENSG00000237188",
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},
{
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"intron_variant"
],
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"exon_count": 2,
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"gene_symbol": "ENSG00000237188",
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
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"gene_symbol": "ENSG00000237188",
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"hgvs_c": "n.1021+12496C>T",
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"transcript": "ENST00000782380.1",
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"biotype": "pseudogene",
"feature": "ENST00000782380.1"
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],
"gene_symbol": "FMO5",
"gene_hgnc_id": 3773,
"dbsnp": "rs374261975",
"frequency_reference_population": 0.00006133601,
"hom_count_reference_population": 0,
"allele_count_reference_population": 99,
"gnomad_exomes_af": 0.0000629327,
"gnomad_genomes_af": 0.0000459976,
"gnomad_exomes_ac": 92,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.40533870458602905,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.733,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.6948,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.26,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.951,
"phylop100way_prediction": "Uncertain_significance",
"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": "PP3,BP4,BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 5,
"pathogenic_score": 1,
"criteria": [
"PP3",
"BP4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001461.4",
"gene_symbol": "FMO5",
"hgnc_id": 3773,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1421G>A",
"hgvs_p": "p.Arg474His"
},
{
"score": -4,
"benign_score": 5,
"pathogenic_score": 1,
"criteria": [
"PP3",
"BP4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001348451.2",
"gene_symbol": "CHD1L",
"hgnc_id": 1916,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.-90+12496C>T",
"hgvs_p": null
},
{
"score": 0,
"benign_score": 1,
"pathogenic_score": 1,
"criteria": [
"PP3",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000606757.1",
"gene_symbol": "ENSG00000237188",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.258+12496C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}