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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: 18-55228903-AGCTTGGTCTGGG-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=55228903&ref=AGCTTGGTCTGGG&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 55228903,
"ref": "AGCTTGGTCTGGG",
"alt": "A",
"effect": "disruptive_inframe_deletion",
"transcript": "ENST00000354452.8",
"consequences": [
{
"aa_ref": "PQTKL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.1811_1822delCCCAGACCAAGC",
"hgvs_p": "p.Pro604_Lys607del",
"transcript": "NM_001083962.2",
"protein_id": "NP_001077431.1",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 671,
"cds_start": 1811,
"cds_end": null,
"cds_length": 2016,
"cdna_start": 1997,
"cdna_end": null,
"cdna_length": 8041,
"mane_select": "ENST00000354452.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PQTKL",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.1811_1822delCCCAGACCAAGC",
"hgvs_p": "p.Pro604_Lys607del",
"transcript": "ENST00000354452.8",
"protein_id": "ENSP00000346440.3",
"transcript_support_level": 5,
"aa_start": 604,
"aa_end": null,
"aa_length": 671,
"cds_start": 1811,
"cds_end": null,
"cds_length": 2016,
"cdna_start": 1997,
"cdna_end": null,
"cdna_length": 8041,
"mane_select": "NM_001083962.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PQTKL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.2117_2128delCCCAGACCAAGC",
"hgvs_p": "p.Pro706_Lys709del",
"transcript": "ENST00000398339.5",
"protein_id": "ENSP00000381382.1",
"transcript_support_level": 1,
"aa_start": 706,
"aa_end": null,
"aa_length": 773,
"cds_start": 2117,
"cds_end": null,
"cds_length": 2322,
"cdna_start": 2258,
"cdna_end": null,
"cdna_length": 2551,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PQTKL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.1799_1810delCCCAGACCAAGC",
"hgvs_p": "p.Pro600_Lys603del",
"transcript": "ENST00000356073.8",
"protein_id": "ENSP00000348374.4",
"transcript_support_level": 1,
"aa_start": 600,
"aa_end": null,
"aa_length": 667,
"cds_start": 1799,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 2422,
"cdna_end": null,
"cdna_length": 8317,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PQTKL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.1790_1801delCCCAGACCAAGC",
"hgvs_p": "p.Pro597_Lys600del",
"transcript": "ENST00000566286.5",
"protein_id": "ENSP00000455418.2",
"transcript_support_level": 1,
"aa_start": 597,
"aa_end": null,
"aa_length": 664,
"cds_start": 1790,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 1801,
"cdna_end": null,
"cdna_length": 2119,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PQTKL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.1673_1684delCCCAGACCAAGC",
"hgvs_p": "p.Pro558_Lys561del",
"transcript": "ENST00000543082.5",
"protein_id": "ENSP00000439656.1",
"transcript_support_level": 1,
"aa_start": 558,
"aa_end": null,
"aa_length": 625,
"cds_start": 1673,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 1859,
"cdna_end": null,
"cdna_length": 2399,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PQTKL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.1619_1630delCCCAGACCAAGC",
"hgvs_p": "p.Pro540_Lys543del",
"transcript": "ENST00000567880.5",
"protein_id": "ENSP00000454366.1",
"transcript_support_level": 1,
"aa_start": 540,
"aa_end": null,
"aa_length": 607,
"cds_start": 1619,
"cds_end": null,
"cds_length": 1824,
"cdna_start": 1630,
"cdna_end": null,
"cdna_length": 1948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PQTKL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.1586_1597delCCCAGACCAAGC",
"hgvs_p": "p.Pro529_Lys532del",
"transcript": "ENST00000564228.5",
"protein_id": "ENSP00000455261.1",
"transcript_support_level": 1,
"aa_start": 529,
"aa_end": null,
"aa_length": 596,
"cds_start": 1586,
"cds_end": null,
"cds_length": 1791,
"cdna_start": 1597,
"cdna_end": null,
"cdna_length": 1915,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PQTKL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.1331_1342delCCCAGACCAAGC",
"hgvs_p": "p.Pro444_Lys447del",
"transcript": "ENST00000457482.7",
"protein_id": "ENSP00000409447.2",
"transcript_support_level": 1,
"aa_start": 444,
"aa_end": null,
"aa_length": 511,
"cds_start": 1331,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1826,
"cdna_end": null,
"cdna_length": 2372,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PQTKL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.1319_1330delCCCAGACCAAGC",
"hgvs_p": "p.Pro440_Lys443del",
"transcript": "ENST00000561831.7",
"protein_id": "ENSP00000457765.1",
"transcript_support_level": 1,
"aa_start": 440,
"aa_end": null,
"aa_length": 507,
"cds_start": 1319,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 1472,
"cdna_end": null,
"cdna_length": 1823,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PQTKL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.1319_1330delCCCAGACCAAGC",
"hgvs_p": "p.Pro440_Lys443del",
"transcript": "ENST00000570287.6",
"protein_id": "ENSP00000455763.1",
"transcript_support_level": 1,
"aa_start": 440,
"aa_end": null,
"aa_length": 507,
"cds_start": 1319,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 1578,
"cdna_end": null,
"cdna_length": 3163,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "n.5334_5345delCCCAGACCAAGC",
"hgvs_p": null,
"transcript": "ENST00000562680.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5733,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PQTKL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.2117_2128delCCCAGACCAAGC",
"hgvs_p": "p.Pro706_Lys709del",
"transcript": "NM_001243226.3",
"protein_id": "NP_001230155.2",
"transcript_support_level": null,
"aa_start": 706,
"aa_end": null,
"aa_length": 773,
"cds_start": 2117,
"cds_end": null,
"cds_length": 2322,
"cdna_start": 2188,
"cdna_end": null,
"cdna_length": 8232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PQTKL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.1838_1849delCCCAGACCAAGC",
"hgvs_p": "p.Pro613_Lys616del",
"transcript": "ENST00000638154.3",
"protein_id": "ENSP00000490625.2",
"transcript_support_level": 5,
"aa_start": 613,
"aa_end": null,
"aa_length": 680,
"cds_start": 1838,
"cds_end": null,
"cds_length": 2043,
"cdna_start": 2052,
"cdna_end": null,
"cdna_length": 7946,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PQTKL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.1829_1840delCCCAGACCAAGC",
"hgvs_p": "p.Pro610_Lys613del",
"transcript": "NM_001243228.2",
"protein_id": "NP_001230157.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 677,
"cds_start": 1829,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 2375,
"cdna_end": null,
"cdna_length": 8419,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PQTKL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.1829_1840delCCCAGACCAAGC",
"hgvs_p": "p.Pro610_Lys613del",
"transcript": "ENST00000564403.6",
"protein_id": "ENSP00000457263.1",
"transcript_support_level": 5,
"aa_start": 610,
"aa_end": null,
"aa_length": 677,
"cds_start": 1829,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 2403,
"cdna_end": null,
"cdna_length": 2696,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PQTKL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.1811_1822delCCCAGACCAAGC",
"hgvs_p": "p.Pro604_Lys607del",
"transcript": "NM_001369567.1",
"protein_id": "NP_001356496.1",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 671,
"cds_start": 1811,
"cds_end": null,
"cds_length": 2016,
"cdna_start": 2357,
"cdna_end": null,
"cdna_length": 8401,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PQTKL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.1811_1822delCCCAGACCAAGC",
"hgvs_p": "p.Pro604_Lys607del",
"transcript": "NM_001369568.1",
"protein_id": "NP_001356497.1",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 671,
"cds_start": 1811,
"cds_end": null,
"cds_length": 2016,
"cdna_start": 1990,
"cdna_end": null,
"cdna_length": 8034,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PQTKL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.1811_1822delCCCAGACCAAGC",
"hgvs_p": "p.Pro604_Lys607del",
"transcript": "ENST00000629387.2",
"protein_id": "ENSP00000486670.1",
"transcript_support_level": 5,
"aa_start": 604,
"aa_end": null,
"aa_length": 671,
"cds_start": 1811,
"cds_end": null,
"cds_length": 2016,
"cdna_start": 2353,
"cdna_end": null,
"cdna_length": 3789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PQTKL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.1808_1819delCCCAGACCAAGC",
"hgvs_p": "p.Pro603_Lys606del",
"transcript": "NM_001330604.3",
"protein_id": "NP_001317533.1",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 670,
"cds_start": 1808,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 1994,
"cdna_end": null,
"cdna_length": 8038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PQTKL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.1808_1819delCCCAGACCAAGC",
"hgvs_p": "p.Pro603_Lys606del",
"transcript": "NM_001369569.1",
"protein_id": "NP_001356498.1",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 670,
"cds_start": 1808,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 1987,
"cdna_end": null,
"cdna_length": 8031,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PQTKL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
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"gene_hgnc_id": 11634,
"hgvs_c": "n.*1689_*1700delCCCAGACCAAGC",
"hgvs_p": null,
"transcript": "ENST00000637115.2",
"protein_id": "ENSP00000490234.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7883,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "n.*1111_*1122delCCCAGACCAAGC",
"hgvs_p": null,
"transcript": "ENST00000637923.2",
"protein_id": "ENSP00000490329.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7314,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "n.*1422_*1433delCCCAGACCAAGC",
"hgvs_p": null,
"transcript": "ENST00000674764.1",
"protein_id": "ENSP00000502213.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2057,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"dbsnp": "rs1555710171",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 10.003,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 7,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM4,PP3,PP5_Moderate",
"acmg_by_gene": [
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PM1",
"PM4",
"PP3",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000354452.8",
"gene_symbol": "TCF4",
"hgnc_id": 11634,
"effects": [
"disruptive_inframe_deletion"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1811_1822delCCCAGACCAAGC",
"hgvs_p": "p.Pro604_Lys607del"
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}