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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: 6-33413761-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=33413761&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 33413761,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_024165.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF1",
"gene_hgnc_id": 8919,
"hgvs_c": "c.613C>T",
"hgvs_p": "p.Arg205Trp",
"transcript": "NM_024165.3",
"protein_id": "NP_077084.2",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 567,
"cds_start": 613,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000374516.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024165.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF1",
"gene_hgnc_id": 8919,
"hgvs_c": "c.613C>T",
"hgvs_p": "p.Arg205Trp",
"transcript": "ENST00000374516.8",
"protein_id": "ENSP00000363640.3",
"transcript_support_level": 1,
"aa_start": 205,
"aa_end": null,
"aa_length": 567,
"cds_start": 613,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024165.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374516.8"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF1",
"gene_hgnc_id": 8919,
"hgvs_c": "c.613C>T",
"hgvs_p": "p.Arg205Trp",
"transcript": "ENST00000374512.7",
"protein_id": "ENSP00000363636.3",
"transcript_support_level": 1,
"aa_start": 205,
"aa_end": null,
"aa_length": 457,
"cds_start": 613,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374512.7"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF1",
"gene_hgnc_id": 8919,
"hgvs_c": "c.631C>T",
"hgvs_p": "p.Arg211Trp",
"transcript": "ENST00000859011.1",
"protein_id": "ENSP00000529070.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 573,
"cds_start": 631,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859011.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF1",
"gene_hgnc_id": 8919,
"hgvs_c": "c.613C>T",
"hgvs_p": "p.Arg205Trp",
"transcript": "ENST00000859000.1",
"protein_id": "ENSP00000529059.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 567,
"cds_start": 613,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859000.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF1",
"gene_hgnc_id": 8919,
"hgvs_c": "c.613C>T",
"hgvs_p": "p.Arg205Trp",
"transcript": "ENST00000859002.1",
"protein_id": "ENSP00000529061.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 567,
"cds_start": 613,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859002.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF1",
"gene_hgnc_id": 8919,
"hgvs_c": "c.613C>T",
"hgvs_p": "p.Arg205Trp",
"transcript": "ENST00000927500.1",
"protein_id": "ENSP00000597559.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 567,
"cds_start": 613,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927500.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF1",
"gene_hgnc_id": 8919,
"hgvs_c": "c.613C>T",
"hgvs_p": "p.Arg205Trp",
"transcript": "ENST00000927501.1",
"protein_id": "ENSP00000597560.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 567,
"cds_start": 613,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927501.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF1",
"gene_hgnc_id": 8919,
"hgvs_c": "c.613C>T",
"hgvs_p": "p.Arg205Trp",
"transcript": "ENST00000859001.1",
"protein_id": "ENSP00000529060.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 566,
"cds_start": 613,
"cds_end": null,
"cds_length": 1701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859001.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF1",
"gene_hgnc_id": 8919,
"hgvs_c": "c.613C>T",
"hgvs_p": "p.Arg205Trp",
"transcript": "ENST00000859004.1",
"protein_id": "ENSP00000529063.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 566,
"cds_start": 613,
"cds_end": null,
"cds_length": 1701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859004.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF1",
"gene_hgnc_id": 8919,
"hgvs_c": "c.613C>T",
"hgvs_p": "p.Arg205Trp",
"transcript": "ENST00000859013.1",
"protein_id": "ENSP00000529072.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 555,
"cds_start": 613,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859013.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF1",
"gene_hgnc_id": 8919,
"hgvs_c": "c.535C>T",
"hgvs_p": "p.Arg179Trp",
"transcript": "ENST00000859003.1",
"protein_id": "ENSP00000529062.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 541,
"cds_start": 535,
"cds_end": null,
"cds_length": 1626,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859003.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF1",
"gene_hgnc_id": 8919,
"hgvs_c": "c.613C>T",
"hgvs_p": "p.Arg205Trp",
"transcript": "ENST00000941052.1",
"protein_id": "ENSP00000611111.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 541,
"cds_start": 613,
"cds_end": null,
"cds_length": 1626,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941052.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF1",
"gene_hgnc_id": 8919,
"hgvs_c": "c.613C>T",
"hgvs_p": "p.Arg205Trp",
"transcript": "ENST00000859012.1",
"protein_id": "ENSP00000529071.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 537,
"cds_start": 613,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859012.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF1",
"gene_hgnc_id": 8919,
"hgvs_c": "c.613C>T",
"hgvs_p": "p.Arg205Trp",
"transcript": "ENST00000859007.1",
"protein_id": "ENSP00000529066.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 536,
"cds_start": 613,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859007.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF1",
"gene_hgnc_id": 8919,
"hgvs_c": "c.613C>T",
"hgvs_p": "p.Arg205Trp",
"transcript": "ENST00000859015.1",
"protein_id": "ENSP00000529074.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 514,
"cds_start": 613,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859015.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF1",
"gene_hgnc_id": 8919,
"hgvs_c": "c.625C>T",
"hgvs_p": "p.Arg209Trp",
"transcript": "ENST00000941046.1",
"protein_id": "ENSP00000611105.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 499,
"cds_start": 625,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941046.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF1",
"gene_hgnc_id": 8919,
"hgvs_c": "c.613C>T",
"hgvs_p": "p.Arg205Trp",
"transcript": "ENST00000859006.1",
"protein_id": "ENSP00000529065.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 495,
"cds_start": 613,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859006.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF1",
"gene_hgnc_id": 8919,
"hgvs_c": "c.613C>T",
"hgvs_p": "p.Arg205Trp",
"transcript": "ENST00000859010.1",
"protein_id": "ENSP00000529069.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
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"cds_start": 613,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859010.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF1",
"gene_hgnc_id": 8919,
"hgvs_c": "c.613C>T",
"hgvs_p": "p.Arg205Trp",
"transcript": "ENST00000859005.1",
"protein_id": "ENSP00000529064.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 494,
"cds_start": 613,
"cds_end": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859005.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF1",
"gene_hgnc_id": 8919,
"hgvs_c": "c.613C>T",
"hgvs_p": "p.Arg205Trp",
"transcript": "ENST00000859014.1",
"protein_id": "ENSP00000529073.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 472,
"cds_start": 613,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859014.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF1",
"gene_hgnc_id": 8919,
"hgvs_c": "c.613C>T",
"hgvs_p": "p.Arg205Trp",
"transcript": "ENST00000941050.1",
"protein_id": "ENSP00000611109.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 471,
"cds_start": 613,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941050.1"
},
{
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"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF1",
"gene_hgnc_id": 8919,
"hgvs_c": "n.831C>T",
"hgvs_p": null,
"transcript": "NR_027692.2",
"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_027692.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF1",
"gene_hgnc_id": 8919,
"hgvs_c": "n.827C>T",
"hgvs_p": null,
"transcript": "XR_007059274.1",
"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": "XR_007059274.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF1",
"gene_hgnc_id": 8919,
"hgvs_c": "n.827C>T",
"hgvs_p": null,
"transcript": "XR_926250.2",
"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": "XR_926250.2"
}
],
"gene_symbol": "PHF1",
"gene_hgnc_id": 8919,
"dbsnp": "rs372034637",
"frequency_reference_population": 0.000042136624,
"hom_count_reference_population": 0,
"allele_count_reference_population": 68,
"gnomad_exomes_af": 0.0000410505,
"gnomad_genomes_af": 0.0000525679,
"gnomad_exomes_ac": 60,
"gnomad_genomes_ac": 8,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.10181054472923279,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.152,
"revel_prediction": "Benign",
"alphamissense_score": 0.1785,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.397,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_024165.3",
"gene_symbol": "PHF1",
"hgnc_id": 8919,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.613C>T",
"hgvs_p": "p.Arg205Trp"
}
],
"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
}