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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: 7-139911233-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=139911233&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 139911233,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001166253.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBXAS1",
"gene_hgnc_id": 11609,
"hgvs_c": "c.245T>C",
"hgvs_p": "p.Leu82Pro",
"transcript": "NM_001061.7",
"protein_id": "NP_001052.3",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 533,
"cds_start": 245,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 372,
"cdna_end": null,
"cdna_length": 1923,
"mane_select": "ENST00000448866.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001061.7"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBXAS1",
"gene_hgnc_id": 11609,
"hgvs_c": "c.245T>C",
"hgvs_p": "p.Leu82Pro",
"transcript": "ENST00000448866.7",
"protein_id": "ENSP00000402536.3",
"transcript_support_level": 1,
"aa_start": 82,
"aa_end": null,
"aa_length": 533,
"cds_start": 245,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 372,
"cdna_end": null,
"cdna_length": 1923,
"mane_select": "NM_001061.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000448866.7"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBXAS1",
"gene_hgnc_id": 11609,
"hgvs_c": "c.245T>C",
"hgvs_p": "p.Leu82Pro",
"transcript": "ENST00000336425.10",
"protein_id": "ENSP00000338087.7",
"transcript_support_level": 1,
"aa_start": 82,
"aa_end": null,
"aa_length": 533,
"cds_start": 245,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 634,
"cdna_end": null,
"cdna_length": 2185,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000336425.10"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBXAS1",
"gene_hgnc_id": 11609,
"hgvs_c": "c.44T>C",
"hgvs_p": "p.Leu15Pro",
"transcript": "ENST00000425687.5",
"protein_id": "ENSP00000388736.1",
"transcript_support_level": 1,
"aa_start": 15,
"aa_end": null,
"aa_length": 466,
"cds_start": 44,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 533,
"cdna_end": null,
"cdna_length": 2080,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000425687.5"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBXAS1",
"gene_hgnc_id": 11609,
"hgvs_c": "c.245T>C",
"hgvs_p": "p.Leu82Pro",
"transcript": "ENST00000411653.6",
"protein_id": "ENSP00000411326.3",
"transcript_support_level": 1,
"aa_start": 82,
"aa_end": null,
"aa_length": 459,
"cds_start": 245,
"cds_end": null,
"cds_length": 1380,
"cdna_start": 372,
"cdna_end": null,
"cdna_length": 1792,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000411653.6"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBXAS1",
"gene_hgnc_id": 11609,
"hgvs_c": "c.245T>C",
"hgvs_p": "p.Leu82Pro",
"transcript": "NM_001166253.4",
"protein_id": "NP_001159725.2",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 579,
"cds_start": 245,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 372,
"cdna_end": null,
"cdna_length": 2061,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001166253.4"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBXAS1",
"gene_hgnc_id": 11609,
"hgvs_c": "c.245T>C",
"hgvs_p": "p.Leu82Pro",
"transcript": "ENST00000458722.6",
"protein_id": "ENSP00000411274.3",
"transcript_support_level": 2,
"aa_start": 82,
"aa_end": null,
"aa_length": 579,
"cds_start": 245,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 382,
"cdna_end": null,
"cdna_length": 2057,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000458722.6"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBXAS1",
"gene_hgnc_id": 11609,
"hgvs_c": "c.245T>C",
"hgvs_p": "p.Leu82Pro",
"transcript": "NM_001130966.5",
"protein_id": "NP_001124438.2",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 533,
"cds_start": 245,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 792,
"cdna_end": null,
"cdna_length": 2343,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130966.5"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBXAS1",
"gene_hgnc_id": 11609,
"hgvs_c": "c.245T>C",
"hgvs_p": "p.Leu82Pro",
"transcript": "ENST00000887871.1",
"protein_id": "ENSP00000557930.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 533,
"cds_start": 245,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 791,
"cdna_end": null,
"cdna_length": 2327,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887871.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBXAS1",
"gene_hgnc_id": 11609,
"hgvs_c": "c.245T>C",
"hgvs_p": "p.Leu82Pro",
"transcript": "ENST00000950315.1",
"protein_id": "ENSP00000620374.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 533,
"cds_start": 245,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 851,
"cdna_end": null,
"cdna_length": 2385,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950315.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBXAS1",
"gene_hgnc_id": 11609,
"hgvs_c": "c.188T>C",
"hgvs_p": "p.Leu63Pro",
"transcript": "NM_001314028.4",
"protein_id": "NP_001300957.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 514,
"cds_start": 188,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 401,
"cdna_end": null,
"cdna_length": 1952,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001314028.4"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBXAS1",
"gene_hgnc_id": 11609,
"hgvs_c": "c.44T>C",
"hgvs_p": "p.Leu15Pro",
"transcript": "NM_001166254.4",
"protein_id": "NP_001159726.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 466,
"cds_start": 44,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 539,
"cdna_end": null,
"cdna_length": 2090,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001166254.4"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBXAS1",
"gene_hgnc_id": 11609,
"hgvs_c": "c.245T>C",
"hgvs_p": "p.Leu82Pro",
"transcript": "NM_030984.6",
"protein_id": "NP_112246.3",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 459,
"cds_start": 245,
"cds_end": null,
"cds_length": 1380,
"cdna_start": 372,
"cdna_end": null,
"cdna_length": 1760,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_030984.6"
},
{
"aa_ref": "L",
"aa_alt": "P",
"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": "TBXAS1",
"gene_hgnc_id": 11609,
"hgvs_c": "c.245T>C",
"hgvs_p": "p.Leu82Pro",
"transcript": "ENST00000950316.1",
"protein_id": "ENSP00000620375.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 410,
"cds_start": 245,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 374,
"cdna_end": null,
"cdna_length": 1553,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950316.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBXAS1",
"gene_hgnc_id": 11609,
"hgvs_c": "c.245T>C",
"hgvs_p": "p.Leu82Pro",
"transcript": "NM_001366538.2",
"protein_id": "NP_001353467.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 151,
"cds_start": 245,
"cds_end": null,
"cds_length": 456,
"cdna_start": 372,
"cdna_end": null,
"cdna_length": 1425,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366538.2"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBXAS1",
"gene_hgnc_id": 11609,
"hgvs_c": "c.245T>C",
"hgvs_p": "p.Leu82Pro",
"transcript": "ENST00000455353.6",
"protein_id": "ENSP00000391567.3",
"transcript_support_level": 2,
"aa_start": 82,
"aa_end": null,
"aa_length": 151,
"cds_start": 245,
"cds_end": null,
"cds_length": 456,
"cdna_start": 382,
"cdna_end": null,
"cdna_length": 1435,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000455353.6"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBXAS1",
"gene_hgnc_id": 11609,
"hgvs_c": "c.245T>C",
"hgvs_p": "p.Leu82Pro",
"transcript": "ENST00000438104.6",
"protein_id": "ENSP00000388612.3",
"transcript_support_level": 5,
"aa_start": 82,
"aa_end": null,
"aa_length": 149,
"cds_start": 245,
"cds_end": null,
"cds_length": 450,
"cdna_start": 547,
"cdna_end": null,
"cdna_length": 752,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000438104.6"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBXAS1",
"gene_hgnc_id": 11609,
"hgvs_c": "c.248T>C",
"hgvs_p": "p.Leu83Pro",
"transcript": "XM_011516544.4",
"protein_id": "XP_011514846.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 463,
"cds_start": 248,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 372,
"cdna_end": null,
"cdna_length": 2933,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011516544.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TBXAS1",
"gene_hgnc_id": 11609,
"hgvs_c": "c.151-24958T>C",
"hgvs_p": null,
"transcript": "NM_001366537.3",
"protein_id": "NP_001353466.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 472,
"cds_start": null,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1826,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366537.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBXAS1",
"gene_hgnc_id": 11609,
"hgvs_c": "n.*100T>C",
"hgvs_p": null,
"transcript": "ENST00000414041.2",
"protein_id": "ENSP00000412710.3",
"transcript_support_level": 4,
"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": 565,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000414041.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBXAS1",
"gene_hgnc_id": 11609,
"hgvs_c": "n.*34T>C",
"hgvs_p": null,
"transcript": "ENST00000422328.6",
"protein_id": "ENSP00000415892.3",
"transcript_support_level": 2,
"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": 1967,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000422328.6"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBXAS1",
"gene_hgnc_id": 11609,
"hgvs_c": "n.216T>C",
"hgvs_p": null,
"transcript": "ENST00000462275.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 1773,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000462275.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBXAS1",
"gene_hgnc_id": 11609,
"hgvs_c": "n.*100T>C",
"hgvs_p": null,
"transcript": "ENST00000414041.2",
"protein_id": "ENSP00000412710.3",
"transcript_support_level": 4,
"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": 565,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000414041.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBXAS1",
"gene_hgnc_id": 11609,
"hgvs_c": "n.*34T>C",
"hgvs_p": null,
"transcript": "ENST00000422328.6",
"protein_id": "ENSP00000415892.3",
"transcript_support_level": 2,
"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": 1967,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000422328.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TBXAS1",
"gene_hgnc_id": 11609,
"hgvs_c": "n.357-24958T>C",
"hgvs_p": null,
"transcript": "ENST00000476637.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 623,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000476637.5"
}
],
"gene_symbol": "TBXAS1",
"gene_hgnc_id": 11609,
"dbsnp": "rs140005285",
"frequency_reference_population": 0.00010470698,
"hom_count_reference_population": 0,
"allele_count_reference_population": 169,
"gnomad_exomes_af": 0.000106716,
"gnomad_genomes_af": 0.0000854128,
"gnomad_exomes_ac": 156,
"gnomad_genomes_ac": 13,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.560765266418457,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.5,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.83,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.24,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.251,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP5",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 0,
"pathogenic_score": 1,
"criteria": [
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001166253.4",
"gene_symbol": "TBXAS1",
"hgnc_id": 11609,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.245T>C",
"hgvs_p": "p.Leu82Pro"
}
],
"clinvar_disease": "Ghosal hematodiaphyseal dysplasia,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "LP:1 US:1",
"phenotype_combined": "not provided|Ghosal hematodiaphyseal dysplasia",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}