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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: 18-55259986-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=55259986&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 55259986,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_001243226.3",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.1032C>T",
"hgvs_p": "p.Asn344Asn",
"transcript": "NM_001083962.2",
"protein_id": "NP_001077431.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 671,
"cds_start": 1032,
"cds_end": null,
"cds_length": 2016,
"cdna_start": 1207,
"cdna_end": null,
"cdna_length": 8041,
"mane_select": "ENST00000354452.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001083962.2"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.1032C>T",
"hgvs_p": "p.Asn344Asn",
"transcript": "ENST00000354452.8",
"protein_id": "ENSP00000346440.3",
"transcript_support_level": 5,
"aa_start": 344,
"aa_end": null,
"aa_length": 671,
"cds_start": 1032,
"cds_end": null,
"cds_length": 2016,
"cdna_start": 1207,
"cdna_end": null,
"cdna_length": 8041,
"mane_select": "NM_001083962.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354452.8"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.1338C>T",
"hgvs_p": "p.Asn446Asn",
"transcript": "ENST00000398339.5",
"protein_id": "ENSP00000381382.1",
"transcript_support_level": 1,
"aa_start": 446,
"aa_end": null,
"aa_length": 773,
"cds_start": 1338,
"cds_end": null,
"cds_length": 2322,
"cdna_start": 1468,
"cdna_end": null,
"cdna_length": 2551,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398339.5"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.1032C>T",
"hgvs_p": "p.Asn344Asn",
"transcript": "ENST00000356073.8",
"protein_id": "ENSP00000348374.4",
"transcript_support_level": 1,
"aa_start": 344,
"aa_end": null,
"aa_length": 667,
"cds_start": 1032,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 1644,
"cdna_end": null,
"cdna_length": 8317,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356073.8"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.1026C>T",
"hgvs_p": "p.Asn342Asn",
"transcript": "ENST00000566286.5",
"protein_id": "ENSP00000455418.2",
"transcript_support_level": 1,
"aa_start": 342,
"aa_end": null,
"aa_length": 664,
"cds_start": 1026,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 1026,
"cdna_end": null,
"cdna_length": 2119,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000566286.5"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.906C>T",
"hgvs_p": "p.Asn302Asn",
"transcript": "ENST00000543082.5",
"protein_id": "ENSP00000439656.1",
"transcript_support_level": 1,
"aa_start": 302,
"aa_end": null,
"aa_length": 625,
"cds_start": 906,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 1081,
"cdna_end": null,
"cdna_length": 2399,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000543082.5"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.852C>T",
"hgvs_p": "p.Asn284Asn",
"transcript": "ENST00000567880.5",
"protein_id": "ENSP00000454366.1",
"transcript_support_level": 1,
"aa_start": 284,
"aa_end": null,
"aa_length": 607,
"cds_start": 852,
"cds_end": null,
"cds_length": 1824,
"cdna_start": 852,
"cdna_end": null,
"cdna_length": 1948,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000567880.5"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.819C>T",
"hgvs_p": "p.Asn273Asn",
"transcript": "ENST00000564228.5",
"protein_id": "ENSP00000455261.1",
"transcript_support_level": 1,
"aa_start": 273,
"aa_end": null,
"aa_length": 596,
"cds_start": 819,
"cds_end": null,
"cds_length": 1791,
"cdna_start": 819,
"cdna_end": null,
"cdna_length": 1915,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000564228.5"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.552C>T",
"hgvs_p": "p.Asn184Asn",
"transcript": "ENST00000457482.7",
"protein_id": "ENSP00000409447.2",
"transcript_support_level": 1,
"aa_start": 184,
"aa_end": null,
"aa_length": 511,
"cds_start": 552,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1036,
"cdna_end": null,
"cdna_length": 2372,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000457482.7"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.552C>T",
"hgvs_p": "p.Asn184Asn",
"transcript": "ENST00000561831.7",
"protein_id": "ENSP00000457765.1",
"transcript_support_level": 1,
"aa_start": 184,
"aa_end": null,
"aa_length": 507,
"cds_start": 552,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 694,
"cdna_end": null,
"cdna_length": 1823,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000561831.7"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.552C>T",
"hgvs_p": "p.Asn184Asn",
"transcript": "ENST00000570287.6",
"protein_id": "ENSP00000455763.1",
"transcript_support_level": 1,
"aa_start": 184,
"aa_end": null,
"aa_length": 507,
"cds_start": 552,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 800,
"cdna_end": null,
"cdna_length": 3163,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000570287.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "n.1123C>T",
"hgvs_p": null,
"transcript": "ENST00000562680.5",
"protein_id": null,
"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": 5733,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000562680.5"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.1338C>T",
"hgvs_p": "p.Asn446Asn",
"transcript": "NM_001243226.3",
"protein_id": "NP_001230155.2",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 773,
"cds_start": 1338,
"cds_end": null,
"cds_length": 2322,
"cdna_start": 1398,
"cdna_end": null,
"cdna_length": 8232,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001243226.3"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.1032C>T",
"hgvs_p": "p.Asn344Asn",
"transcript": "ENST00000936496.1",
"protein_id": "ENSP00000606555.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 697,
"cds_start": 1032,
"cds_end": null,
"cds_length": 2094,
"cdna_start": 1195,
"cdna_end": null,
"cdna_length": 2456,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936496.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.1062C>T",
"hgvs_p": "p.Asn354Asn",
"transcript": "ENST00000638154.3",
"protein_id": "ENSP00000490625.2",
"transcript_support_level": 5,
"aa_start": 354,
"aa_end": null,
"aa_length": 680,
"cds_start": 1062,
"cds_end": null,
"cds_length": 2043,
"cdna_start": 1265,
"cdna_end": null,
"cdna_length": 7946,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000638154.3"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.1050C>T",
"hgvs_p": "p.Asn350Asn",
"transcript": "NM_001243228.2",
"protein_id": "NP_001230157.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 677,
"cds_start": 1050,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 1585,
"cdna_end": null,
"cdna_length": 8419,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001243228.2"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.1050C>T",
"hgvs_p": "p.Asn350Asn",
"transcript": "ENST00000564403.6",
"protein_id": "ENSP00000457263.1",
"transcript_support_level": 5,
"aa_start": 350,
"aa_end": null,
"aa_length": 677,
"cds_start": 1050,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 1613,
"cdna_end": null,
"cdna_length": 2696,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000564403.6"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.1032C>T",
"hgvs_p": "p.Asn344Asn",
"transcript": "NM_001369567.1",
"protein_id": "NP_001356496.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 671,
"cds_start": 1032,
"cds_end": null,
"cds_length": 2016,
"cdna_start": 1567,
"cdna_end": null,
"cdna_length": 8401,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369567.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.1032C>T",
"hgvs_p": "p.Asn344Asn",
"transcript": "NM_001369568.1",
"protein_id": "NP_001356497.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 671,
"cds_start": 1032,
"cds_end": null,
"cds_length": 2016,
"cdna_start": 1200,
"cdna_end": null,
"cdna_length": 8034,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369568.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.1032C>T",
"hgvs_p": "p.Asn344Asn",
"transcript": "ENST00000629387.2",
"protein_id": "ENSP00000486670.1",
"transcript_support_level": 5,
"aa_start": 344,
"aa_end": null,
"aa_length": 671,
"cds_start": 1032,
"cds_end": null,
"cds_length": 2016,
"cdna_start": 1563,
"cdna_end": null,
"cdna_length": 3789,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000629387.2"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.1032C>T",
"hgvs_p": "p.Asn344Asn",
"transcript": "ENST00000856120.1",
"protein_id": "ENSP00000526179.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 671,
"cds_start": 1032,
"cds_end": null,
"cds_length": 2016,
"cdna_start": 1120,
"cdna_end": null,
"cdna_length": 2311,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856120.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.1032C>T",
"hgvs_p": "p.Asn344Asn",
"transcript": "ENST00000856121.1",
"protein_id": "ENSP00000526180.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 671,
"cds_start": 1032,
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"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.*20C>T",
"hgvs_p": null,
"transcript": "ENST00000628078.2",
"protein_id": "ENSP00000486909.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 206,
"cds_start": null,
"cds_end": null,
"cds_length": 622,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1277,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000628078.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "n.*9C>T",
"hgvs_p": null,
"transcript": "ENST00000627136.2",
"protein_id": null,
"transcript_support_level": 5,
"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": 624,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000627136.2"
}
],
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"dbsnp": "rs372738049",
"frequency_reference_population": 0.0000037191728,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.0000034218,
"gnomad_genomes_af": 0.00000657713,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.4300000071525574,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.628,
"phylop100way_prediction": "Benign",
"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": -15,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BS2",
"acmg_by_gene": [
{
"score": -15,
"benign_score": 15,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001243226.3",
"gene_symbol": "TCF4",
"hgnc_id": 11634,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1338C>T",
"hgvs_p": "p.Asn446Asn"
}
],
"clinvar_disease": "Inborn genetic diseases,Pitt-Hopkins syndrome,not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3",
"phenotype_combined": "not provided|Pitt-Hopkins syndrome|Inborn genetic diseases",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}