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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: 20-44480156-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=44480156&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 44480156,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_024331.5",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTPAL",
"gene_hgnc_id": 16114,
"hgvs_c": "c.157T>C",
"hgvs_p": "p.Trp53Arg",
"transcript": "NM_001039199.3",
"protein_id": "NP_001034288.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 342,
"cds_start": 157,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000262605.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001039199.3"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTPAL",
"gene_hgnc_id": 16114,
"hgvs_c": "c.157T>C",
"hgvs_p": "p.Trp53Arg",
"transcript": "ENST00000262605.9",
"protein_id": "ENSP00000262605.4",
"transcript_support_level": 1,
"aa_start": 53,
"aa_end": null,
"aa_length": 342,
"cds_start": 157,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001039199.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262605.9"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTPAL",
"gene_hgnc_id": 16114,
"hgvs_c": "c.157T>C",
"hgvs_p": "p.Trp53Arg",
"transcript": "ENST00000372904.7",
"protein_id": "ENSP00000361995.3",
"transcript_support_level": 1,
"aa_start": 53,
"aa_end": null,
"aa_length": 342,
"cds_start": 157,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372904.7"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTPAL",
"gene_hgnc_id": 16114,
"hgvs_c": "c.157T>C",
"hgvs_p": "p.Trp53Arg",
"transcript": "NM_024331.5",
"protein_id": "NP_077307.2",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 342,
"cds_start": 157,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024331.5"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTPAL",
"gene_hgnc_id": 16114,
"hgvs_c": "c.157T>C",
"hgvs_p": "p.Trp53Arg",
"transcript": "ENST00000901707.1",
"protein_id": "ENSP00000571766.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 342,
"cds_start": 157,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901707.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTPAL",
"gene_hgnc_id": 16114,
"hgvs_c": "c.157T>C",
"hgvs_p": "p.Trp53Arg",
"transcript": "ENST00000901708.1",
"protein_id": "ENSP00000571767.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 342,
"cds_start": 157,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901708.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTPAL",
"gene_hgnc_id": 16114,
"hgvs_c": "c.157T>C",
"hgvs_p": "p.Trp53Arg",
"transcript": "ENST00000901712.1",
"protein_id": "ENSP00000571771.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 342,
"cds_start": 157,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901712.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTPAL",
"gene_hgnc_id": 16114,
"hgvs_c": "c.157T>C",
"hgvs_p": "p.Trp53Arg",
"transcript": "ENST00000901715.1",
"protein_id": "ENSP00000571774.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 342,
"cds_start": 157,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901715.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTPAL",
"gene_hgnc_id": 16114,
"hgvs_c": "c.157T>C",
"hgvs_p": "p.Trp53Arg",
"transcript": "ENST00000901717.1",
"protein_id": "ENSP00000571776.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 342,
"cds_start": 157,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901717.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTPAL",
"gene_hgnc_id": 16114,
"hgvs_c": "c.157T>C",
"hgvs_p": "p.Trp53Arg",
"transcript": "ENST00000901721.1",
"protein_id": "ENSP00000571780.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 342,
"cds_start": 157,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901721.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTPAL",
"gene_hgnc_id": 16114,
"hgvs_c": "c.157T>C",
"hgvs_p": "p.Trp53Arg",
"transcript": "ENST00000901722.1",
"protein_id": "ENSP00000571781.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 342,
"cds_start": 157,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901722.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTPAL",
"gene_hgnc_id": 16114,
"hgvs_c": "c.157T>C",
"hgvs_p": "p.Trp53Arg",
"transcript": "ENST00000901723.1",
"protein_id": "ENSP00000571782.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 342,
"cds_start": 157,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901723.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTPAL",
"gene_hgnc_id": 16114,
"hgvs_c": "c.157T>C",
"hgvs_p": "p.Trp53Arg",
"transcript": "ENST00000901726.1",
"protein_id": "ENSP00000571785.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 342,
"cds_start": 157,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901726.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTPAL",
"gene_hgnc_id": 16114,
"hgvs_c": "c.157T>C",
"hgvs_p": "p.Trp53Arg",
"transcript": "ENST00000945911.1",
"protein_id": "ENSP00000615970.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 342,
"cds_start": 157,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945911.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTPAL",
"gene_hgnc_id": 16114,
"hgvs_c": "c.157T>C",
"hgvs_p": "p.Trp53Arg",
"transcript": "ENST00000901720.1",
"protein_id": "ENSP00000571779.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 336,
"cds_start": 157,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901720.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTPAL",
"gene_hgnc_id": 16114,
"hgvs_c": "c.157T>C",
"hgvs_p": "p.Trp53Arg",
"transcript": "ENST00000901714.1",
"protein_id": "ENSP00000571773.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 320,
"cds_start": 157,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901714.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTPAL",
"gene_hgnc_id": 16114,
"hgvs_c": "c.157T>C",
"hgvs_p": "p.Trp53Arg",
"transcript": "NM_001261839.2",
"protein_id": "NP_001248768.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 308,
"cds_start": 157,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001261839.2"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTPAL",
"gene_hgnc_id": 16114,
"hgvs_c": "c.157T>C",
"hgvs_p": "p.Trp53Arg",
"transcript": "ENST00000901709.1",
"protein_id": "ENSP00000571768.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 308,
"cds_start": 157,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901709.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTPAL",
"gene_hgnc_id": 16114,
"hgvs_c": "c.157T>C",
"hgvs_p": "p.Trp53Arg",
"transcript": "ENST00000901710.1",
"protein_id": "ENSP00000571769.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 308,
"cds_start": 157,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901710.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTPAL",
"gene_hgnc_id": 16114,
"hgvs_c": "c.157T>C",
"hgvs_p": "p.Trp53Arg",
"transcript": "ENST00000901719.1",
"protein_id": "ENSP00000571778.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 308,
"cds_start": 157,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901719.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTPAL",
"gene_hgnc_id": 16114,
"hgvs_c": "c.157T>C",
"hgvs_p": "p.Trp53Arg",
"transcript": "ENST00000901725.1",
"protein_id": "ENSP00000571784.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 308,
"cds_start": 157,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901725.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTPAL",
"gene_hgnc_id": 16114,
"hgvs_c": "c.157T>C",
"hgvs_p": "p.Trp53Arg",
"transcript": "ENST00000901727.1",
"protein_id": "ENSP00000571786.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 308,
"cds_start": 157,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901727.1"
},
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTPAL",
"gene_hgnc_id": 16114,
"hgvs_c": "c.157T>C",
"hgvs_p": "p.Trp53Arg",
"transcript": "XM_047440492.1",
"protein_id": "XP_047296448.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 305,
"cds_start": 157,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440492.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTPAL",
"gene_hgnc_id": 16114,
"hgvs_c": "c.157T>C",
"hgvs_p": "p.Trp53Arg",
"transcript": "XM_047440493.1",
"protein_id": "XP_047296449.1",
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"aa_start": 53,
"aa_end": null,
"aa_length": 305,
"cds_start": 157,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440493.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTPAL",
"gene_hgnc_id": 16114,
"hgvs_c": "c.157T>C",
"hgvs_p": "p.Trp53Arg",
"transcript": "XM_047440494.1",
"protein_id": "XP_047296450.1",
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"aa_start": 53,
"aa_end": null,
"aa_length": 305,
"cds_start": 157,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440494.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTPAL",
"gene_hgnc_id": 16114,
"hgvs_c": "c.157T>C",
"hgvs_p": "p.Trp53Arg",
"transcript": "XM_024452001.2",
"protein_id": "XP_024307769.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 186,
"cds_start": 157,
"cds_end": null,
"cds_length": 561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024452001.2"
}
],
"gene_symbol": "TTPAL",
"gene_hgnc_id": 16114,
"dbsnp": null,
"frequency_reference_population": 0.0000020521547,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205215,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2652643918991089,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.552,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9969,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.02,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.613,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_024331.5",
"gene_symbol": "TTPAL",
"hgnc_id": 16114,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.157T>C",
"hgvs_p": "p.Trp53Arg"
}
],
"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
}