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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: 11-121045812-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=121045812&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 121045812,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001378761.1",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCEL",
"gene_hgnc_id": 28115,
"hgvs_c": "c.122C>T",
"hgvs_p": "p.Ser41Phe",
"transcript": "NM_001363644.2",
"protein_id": "NP_001350573.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 424,
"cds_start": 122,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000683345.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363644.2"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCEL",
"gene_hgnc_id": 28115,
"hgvs_c": "c.122C>T",
"hgvs_p": "p.Ser41Phe",
"transcript": "ENST00000683345.1",
"protein_id": "ENSP00000507873.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 424,
"cds_start": 122,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001363644.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683345.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCEL-TECTA",
"gene_hgnc_id": 54857,
"hgvs_c": "c.74C>T",
"hgvs_p": "p.Ser25Phe",
"transcript": "ENST00000645041.1",
"protein_id": "ENSP00000496315.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 476,
"cds_start": 74,
"cds_end": null,
"cds_length": 1432,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645041.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCEL",
"gene_hgnc_id": 28115,
"hgvs_c": "c.122C>T",
"hgvs_p": "p.Ser41Phe",
"transcript": "ENST00000422003.6",
"protein_id": "ENSP00000403925.2",
"transcript_support_level": 1,
"aa_start": 41,
"aa_end": null,
"aa_length": 424,
"cds_start": 122,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000422003.6"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCEL",
"gene_hgnc_id": 28115,
"hgvs_c": "c.122C>T",
"hgvs_p": "p.Ser41Phe",
"transcript": "ENST00000529397.5",
"protein_id": "ENSP00000437184.1",
"transcript_support_level": 1,
"aa_start": 41,
"aa_end": null,
"aa_length": 424,
"cds_start": 122,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000529397.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCEL",
"gene_hgnc_id": 28115,
"hgvs_c": "n.122C>T",
"hgvs_p": null,
"transcript": "ENST00000284259.11",
"protein_id": "ENSP00000284259.7",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000284259.11"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCEL-TECTA",
"gene_hgnc_id": 54857,
"hgvs_c": "c.122C>T",
"hgvs_p": "p.Ser41Phe",
"transcript": "NM_001378761.1",
"protein_id": "NP_001365690.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 2469,
"cds_start": 122,
"cds_end": null,
"cds_length": 7410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378761.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCEL",
"gene_hgnc_id": 28115,
"hgvs_c": "c.122C>T",
"hgvs_p": "p.Ser41Phe",
"transcript": "NM_001130047.3",
"protein_id": "NP_001123519.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 424,
"cds_start": 122,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130047.3"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCEL",
"gene_hgnc_id": 28115,
"hgvs_c": "c.122C>T",
"hgvs_p": "p.Ser41Phe",
"transcript": "NM_152715.5",
"protein_id": "NP_689928.3",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 424,
"cds_start": 122,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152715.5"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCEL",
"gene_hgnc_id": 28115,
"hgvs_c": "c.122C>T",
"hgvs_p": "p.Ser41Phe",
"transcript": "ENST00000885763.1",
"protein_id": "ENSP00000555822.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 424,
"cds_start": 122,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885763.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCEL",
"gene_hgnc_id": 28115,
"hgvs_c": "c.122C>T",
"hgvs_p": "p.Ser41Phe",
"transcript": "ENST00000885764.1",
"protein_id": "ENSP00000555823.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 424,
"cds_start": 122,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885764.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCEL",
"gene_hgnc_id": 28115,
"hgvs_c": "c.122C>T",
"hgvs_p": "p.Ser41Phe",
"transcript": "ENST00000885765.1",
"protein_id": "ENSP00000555824.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 424,
"cds_start": 122,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885765.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCEL",
"gene_hgnc_id": 28115,
"hgvs_c": "c.122C>T",
"hgvs_p": "p.Ser41Phe",
"transcript": "ENST00000885766.1",
"protein_id": "ENSP00000555825.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 424,
"cds_start": 122,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885766.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCEL",
"gene_hgnc_id": 28115,
"hgvs_c": "c.122C>T",
"hgvs_p": "p.Ser41Phe",
"transcript": "ENST00000885767.1",
"protein_id": "ENSP00000555826.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 424,
"cds_start": 122,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885767.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCEL",
"gene_hgnc_id": 28115,
"hgvs_c": "c.122C>T",
"hgvs_p": "p.Ser41Phe",
"transcript": "ENST00000885768.1",
"protein_id": "ENSP00000555827.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 424,
"cds_start": 122,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885768.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCEL",
"gene_hgnc_id": 28115,
"hgvs_c": "c.122C>T",
"hgvs_p": "p.Ser41Phe",
"transcript": "ENST00000885769.1",
"protein_id": "ENSP00000555828.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 424,
"cds_start": 122,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885769.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCEL",
"gene_hgnc_id": 28115,
"hgvs_c": "c.122C>T",
"hgvs_p": "p.Ser41Phe",
"transcript": "ENST00000885770.1",
"protein_id": "ENSP00000555829.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 424,
"cds_start": 122,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885770.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCEL",
"gene_hgnc_id": 28115,
"hgvs_c": "c.122C>T",
"hgvs_p": "p.Ser41Phe",
"transcript": "ENST00000885771.1",
"protein_id": "ENSP00000555830.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 424,
"cds_start": 122,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885771.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCEL",
"gene_hgnc_id": 28115,
"hgvs_c": "c.122C>T",
"hgvs_p": "p.Ser41Phe",
"transcript": "ENST00000923205.1",
"protein_id": "ENSP00000593264.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 424,
"cds_start": 122,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923205.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCEL",
"gene_hgnc_id": 28115,
"hgvs_c": "c.122C>T",
"hgvs_p": "p.Ser41Phe",
"transcript": "ENST00000967565.1",
"protein_id": "ENSP00000637624.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 424,
"cds_start": 122,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967565.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCEL",
"gene_hgnc_id": 28115,
"hgvs_c": "c.122C>T",
"hgvs_p": "p.Ser41Phe",
"transcript": "ENST00000967567.1",
"protein_id": "ENSP00000637626.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 424,
"cds_start": 122,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967567.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCEL",
"gene_hgnc_id": 28115,
"hgvs_c": "c.122C>T",
"hgvs_p": "p.Ser41Phe",
"transcript": "ENST00000967568.1",
"protein_id": "ENSP00000637627.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 424,
"cds_start": 122,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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{
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{
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{
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
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"feature": "ENST00000533134.1"
},
{
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],
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"feature": "ENST00000530362.1"
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{
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],
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000531148.5"
},
{
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"strand": true,
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],
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"gene_symbol": "TBCEL",
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"transcript": "ENST00000533712.5",
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"feature": "ENST00000533712.5"
},
{
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"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"gene_symbol": "TBCEL-TECTA",
"gene_hgnc_id": 54857,
"hgvs_c": "n.306C>T",
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"transcript": "ENST00000644541.1",
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"mane_select": null,
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"biotype": "retained_intron",
"feature": "ENST00000644541.1"
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],
"gene_symbol": "TBCEL-TECTA",
"gene_hgnc_id": 54857,
"dbsnp": "rs1028764515",
"frequency_reference_population": 0.0000013906929,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000139069,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5442894697189331,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.376,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.7094,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.1,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.792,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001378761.1",
"gene_symbol": "TBCEL-TECTA",
"hgnc_id": 54857,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.122C>T",
"hgvs_p": "p.Ser41Phe"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM1",
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_152715.5",
"gene_symbol": "TBCEL",
"hgnc_id": 28115,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.122C>T",
"hgvs_p": "p.Ser41Phe"
}
],
"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
}