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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: 1-54040798-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=54040798&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 54040798,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001305043.2",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM59",
"gene_hgnc_id": 1239,
"hgvs_c": "c.665T>C",
"hgvs_p": "p.Leu222Pro",
"transcript": "NM_004872.5",
"protein_id": "NP_004863.2",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 323,
"cds_start": 665,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000234831.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004872.5"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM59",
"gene_hgnc_id": 1239,
"hgvs_c": "c.665T>C",
"hgvs_p": "p.Leu222Pro",
"transcript": "ENST00000234831.10",
"protein_id": "ENSP00000234831.5",
"transcript_support_level": 1,
"aa_start": 222,
"aa_end": null,
"aa_length": 323,
"cds_start": 665,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004872.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000234831.10"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM59",
"gene_hgnc_id": 1239,
"hgvs_c": "c.272T>C",
"hgvs_p": "p.Leu91Pro",
"transcript": "ENST00000371348.5",
"protein_id": "ENSP00000360399.1",
"transcript_support_level": 1,
"aa_start": 91,
"aa_end": null,
"aa_length": 192,
"cds_start": 272,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371348.5"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM59",
"gene_hgnc_id": 1239,
"hgvs_c": "c.668T>C",
"hgvs_p": "p.Leu223Pro",
"transcript": "ENST00000864587.1",
"protein_id": "ENSP00000534646.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 363,
"cds_start": 668,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864587.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM59",
"gene_hgnc_id": 1239,
"hgvs_c": "c.665T>C",
"hgvs_p": "p.Leu222Pro",
"transcript": "ENST00000864584.1",
"protein_id": "ENSP00000534643.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 362,
"cds_start": 665,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864584.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM59",
"gene_hgnc_id": 1239,
"hgvs_c": "c.731T>C",
"hgvs_p": "p.Leu244Pro",
"transcript": "ENST00000864586.1",
"protein_id": "ENSP00000534645.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 345,
"cds_start": 731,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864586.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM59",
"gene_hgnc_id": 1239,
"hgvs_c": "c.701T>C",
"hgvs_p": "p.Leu234Pro",
"transcript": "ENST00000864582.1",
"protein_id": "ENSP00000534641.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 335,
"cds_start": 701,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864582.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM59",
"gene_hgnc_id": 1239,
"hgvs_c": "c.668T>C",
"hgvs_p": "p.Leu223Pro",
"transcript": "NM_001305043.2",
"protein_id": "NP_001291972.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 324,
"cds_start": 668,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001305043.2"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM59",
"gene_hgnc_id": 1239,
"hgvs_c": "c.668T>C",
"hgvs_p": "p.Leu223Pro",
"transcript": "ENST00000864578.1",
"protein_id": "ENSP00000534637.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 324,
"cds_start": 668,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864578.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM59",
"gene_hgnc_id": 1239,
"hgvs_c": "c.668T>C",
"hgvs_p": "p.Leu223Pro",
"transcript": "ENST00000864581.1",
"protein_id": "ENSP00000534640.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 323,
"cds_start": 668,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864581.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM59",
"gene_hgnc_id": 1239,
"hgvs_c": "c.665T>C",
"hgvs_p": "p.Leu222Pro",
"transcript": "ENST00000864580.1",
"protein_id": "ENSP00000534639.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 322,
"cds_start": 665,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864580.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM59",
"gene_hgnc_id": 1239,
"hgvs_c": "c.659T>C",
"hgvs_p": "p.Leu220Pro",
"transcript": "ENST00000864583.1",
"protein_id": "ENSP00000534642.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 321,
"cds_start": 659,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864583.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM59",
"gene_hgnc_id": 1239,
"hgvs_c": "c.653T>C",
"hgvs_p": "p.Leu218Pro",
"transcript": "ENST00000864588.1",
"protein_id": "ENSP00000534647.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 319,
"cds_start": 653,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864588.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM59",
"gene_hgnc_id": 1239,
"hgvs_c": "c.698T>C",
"hgvs_p": "p.Leu233Pro",
"transcript": "ENST00000452421.5",
"protein_id": "ENSP00000397772.1",
"transcript_support_level": 5,
"aa_start": 233,
"aa_end": null,
"aa_length": 284,
"cds_start": 698,
"cds_end": null,
"cds_length": 857,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000452421.5"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM59",
"gene_hgnc_id": 1239,
"hgvs_c": "c.506T>C",
"hgvs_p": "p.Leu169Pro",
"transcript": "ENST00000864579.1",
"protein_id": "ENSP00000534638.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 270,
"cds_start": 506,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864579.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM59",
"gene_hgnc_id": 1239,
"hgvs_c": "c.467T>C",
"hgvs_p": "p.Leu156Pro",
"transcript": "NM_001305050.2",
"protein_id": "NP_001291979.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 257,
"cds_start": 467,
"cds_end": null,
"cds_length": 774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001305050.2"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM59",
"gene_hgnc_id": 1239,
"hgvs_c": "c.314T>C",
"hgvs_p": "p.Leu105Pro",
"transcript": "ENST00000864585.1",
"protein_id": "ENSP00000534644.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 206,
"cds_start": 314,
"cds_end": null,
"cds_length": 621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864585.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM59",
"gene_hgnc_id": 1239,
"hgvs_c": "c.275T>C",
"hgvs_p": "p.Leu92Pro",
"transcript": "NM_001305049.1",
"protein_id": "NP_001291978.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 193,
"cds_start": 275,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001305049.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM59",
"gene_hgnc_id": 1239,
"hgvs_c": "c.272T>C",
"hgvs_p": "p.Leu91Pro",
"transcript": "NM_001305051.1",
"protein_id": "NP_001291980.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 192,
"cds_start": 272,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001305051.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM59",
"gene_hgnc_id": 1239,
"hgvs_c": "c.272T>C",
"hgvs_p": "p.Leu91Pro",
"transcript": "NM_001305052.1",
"protein_id": "NP_001291981.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 192,
"cds_start": 272,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001305052.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM59",
"gene_hgnc_id": 1239,
"hgvs_c": "c.272T>C",
"hgvs_p": "p.Leu91Pro",
"transcript": "ENST00000371341.5",
"protein_id": "ENSP00000360392.1",
"transcript_support_level": 2,
"aa_start": 91,
"aa_end": null,
"aa_length": 192,
"cds_start": 272,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371341.5"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM59",
"gene_hgnc_id": 1239,
"hgvs_c": "c.272T>C",
"hgvs_p": "p.Leu91Pro",
"transcript": "ENST00000371344.5",
"protein_id": "ENSP00000360395.1",
"transcript_support_level": 2,
"aa_start": 91,
"aa_end": null,
"aa_length": 192,
"cds_start": 272,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371344.5"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM59",
"gene_hgnc_id": 1239,
"hgvs_c": "c.272T>C",
"hgvs_p": "p.Leu91Pro",
"transcript": "ENST00000420738.5",
"protein_id": "ENSP00000413792.1",
"transcript_support_level": 3,
"aa_start": 91,
"aa_end": null,
"aa_length": 143,
"cds_start": 272,
"cds_end": null,
"cds_length": 434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000420738.5"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM59",
"gene_hgnc_id": 1239,
"hgvs_c": "c.272T>C",
"hgvs_p": "p.Leu91Pro",
"transcript": "ENST00000440019.5",
"protein_id": "ENSP00000399761.1",
"transcript_support_level": 2,
"aa_start": 91,
"aa_end": null,
"aa_length": 143,
"cds_start": 272,
"cds_end": null,
"cds_length": 434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000440019.5"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TMEM59",
"gene_hgnc_id": 1239,
"hgvs_c": "c.190-8493T>C",
"hgvs_p": null,
"transcript": "ENST00000932973.1",
"protein_id": "ENSP00000603032.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 114,
"cds_start": null,
"cds_end": null,
"cds_length": 345,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932973.1"
}
],
"gene_symbol": "TMEM59",
"gene_hgnc_id": 1239,
"dbsnp": "rs1409417812",
"frequency_reference_population": 0.0000092950395,
"hom_count_reference_population": 0,
"allele_count_reference_population": 15,
"gnomad_exomes_af": 0.00000752636,
"gnomad_genomes_af": 0.0000262753,
"gnomad_exomes_ac": 11,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.17422589659690857,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07000000029802322,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.046,
"revel_prediction": "Benign",
"alphamissense_score": 0.0596,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.453,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.07,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001305043.2",
"gene_symbol": "TMEM59",
"hgnc_id": 1239,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.668T>C",
"hgvs_p": "p.Leu223Pro"
}
],
"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
}