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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: 11-57796640-CT-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=57796640&ref=CT&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 57796640,
"ref": "CT",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "ENST00000399050.10",
"consequences": [
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNND1",
"gene_hgnc_id": 2515,
"hgvs_c": "c.606delT",
"hgvs_p": "p.Pro203fs",
"transcript": "NM_001085458.2",
"protein_id": "NP_001078927.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 968,
"cds_start": 606,
"cds_end": null,
"cds_length": 2907,
"cdna_start": 1137,
"cdna_end": null,
"cdna_length": 6670,
"mane_select": "ENST00000399050.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNND1",
"gene_hgnc_id": 2515,
"hgvs_c": "c.606delT",
"hgvs_p": "p.Pro203fs",
"transcript": "ENST00000399050.10",
"protein_id": "ENSP00000382004.5",
"transcript_support_level": 1,
"aa_start": 202,
"aa_end": null,
"aa_length": 968,
"cds_start": 606,
"cds_end": null,
"cds_length": 2907,
"cdna_start": 1137,
"cdna_end": null,
"cdna_length": 6670,
"mane_select": "NM_001085458.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNND1",
"gene_hgnc_id": 2515,
"hgvs_c": "c.606delT",
"hgvs_p": "p.Pro203fs",
"transcript": "ENST00000361332.8",
"protein_id": "ENSP00000354823.4",
"transcript_support_level": 1,
"aa_start": 202,
"aa_end": null,
"aa_length": 962,
"cds_start": 606,
"cds_end": null,
"cds_length": 2889,
"cdna_start": 1142,
"cdna_end": null,
"cdna_length": 6295,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNND1",
"gene_hgnc_id": 2515,
"hgvs_c": "c.606delT",
"hgvs_p": "p.Pro203fs",
"transcript": "ENST00000361391.10",
"protein_id": "ENSP00000354785.6",
"transcript_support_level": 1,
"aa_start": 202,
"aa_end": null,
"aa_length": 941,
"cds_start": 606,
"cds_end": null,
"cds_length": 2826,
"cdna_start": 1142,
"cdna_end": null,
"cdna_length": 6232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNND1",
"gene_hgnc_id": 2515,
"hgvs_c": "c.606delT",
"hgvs_p": "p.Pro203fs",
"transcript": "ENST00000361796.9",
"protein_id": "ENSP00000354907.5",
"transcript_support_level": 1,
"aa_start": 202,
"aa_end": null,
"aa_length": 939,
"cds_start": 606,
"cds_end": null,
"cds_length": 2820,
"cdna_start": 1142,
"cdna_end": null,
"cdna_length": 6226,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNND1",
"gene_hgnc_id": 2515,
"hgvs_c": "c.606delT",
"hgvs_p": "p.Pro203fs",
"transcript": "ENST00000358694.10",
"protein_id": "ENSP00000351527.6",
"transcript_support_level": 1,
"aa_start": 202,
"aa_end": null,
"aa_length": 933,
"cds_start": 606,
"cds_end": null,
"cds_length": 2802,
"cdna_start": 1069,
"cdna_end": null,
"cdna_length": 6135,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNND1",
"gene_hgnc_id": 2515,
"hgvs_c": "c.606delT",
"hgvs_p": "p.Pro203fs",
"transcript": "ENST00000428599.6",
"protein_id": "ENSP00000413586.2",
"transcript_support_level": 1,
"aa_start": 202,
"aa_end": null,
"aa_length": 933,
"cds_start": 606,
"cds_end": null,
"cds_length": 2802,
"cdna_start": 950,
"cdna_end": null,
"cdna_length": 6016,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNND1",
"gene_hgnc_id": 2515,
"hgvs_c": "c.444delT",
"hgvs_p": "p.Pro149fs",
"transcript": "ENST00000532844.5",
"protein_id": "ENSP00000433276.1",
"transcript_support_level": 1,
"aa_start": 148,
"aa_end": null,
"aa_length": 914,
"cds_start": 444,
"cds_end": null,
"cds_length": 2745,
"cdna_start": 841,
"cdna_end": null,
"cdna_length": 6012,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNND1",
"gene_hgnc_id": 2515,
"hgvs_c": "c.444delT",
"hgvs_p": "p.Pro149fs",
"transcript": "ENST00000526357.5",
"protein_id": "ENSP00000433334.1",
"transcript_support_level": 1,
"aa_start": 148,
"aa_end": null,
"aa_length": 908,
"cds_start": 444,
"cds_end": null,
"cds_length": 2727,
"cdna_start": 841,
"cdna_end": null,
"cdna_length": 5994,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNND1",
"gene_hgnc_id": 2515,
"hgvs_c": "c.444delT",
"hgvs_p": "p.Pro149fs",
"transcript": "ENST00000529873.5",
"protein_id": "ENSP00000435494.1",
"transcript_support_level": 1,
"aa_start": 148,
"aa_end": null,
"aa_length": 887,
"cds_start": 444,
"cds_end": null,
"cds_length": 2664,
"cdna_start": 841,
"cdna_end": null,
"cdna_length": 5931,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNND1",
"gene_hgnc_id": 2515,
"hgvs_c": "c.444delT",
"hgvs_p": "p.Pro149fs",
"transcript": "ENST00000530748.5",
"protein_id": "ENSP00000436744.1",
"transcript_support_level": 1,
"aa_start": 148,
"aa_end": null,
"aa_length": 885,
"cds_start": 444,
"cds_end": null,
"cds_length": 2658,
"cdna_start": 841,
"cdna_end": null,
"cdna_length": 5925,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNND1",
"gene_hgnc_id": 2515,
"hgvs_c": "c.444delT",
"hgvs_p": "p.Pro149fs",
"transcript": "ENST00000528621.5",
"protein_id": "ENSP00000432243.1",
"transcript_support_level": 1,
"aa_start": 148,
"aa_end": null,
"aa_length": 879,
"cds_start": 444,
"cds_end": null,
"cds_length": 2640,
"cdna_start": 841,
"cdna_end": null,
"cdna_length": 5907,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNND1",
"gene_hgnc_id": 2515,
"hgvs_c": "c.444delT",
"hgvs_p": "p.Pro149fs",
"transcript": "ENST00000529526.5",
"protein_id": "ENSP00000436323.1",
"transcript_support_level": 1,
"aa_start": 148,
"aa_end": null,
"aa_length": 879,
"cds_start": 444,
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"cds_length": 2640,
"cdna_start": 1033,
"cdna_end": null,
"cdna_length": 6099,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNND1",
"gene_hgnc_id": 2515,
"hgvs_c": "c.444delT",
"hgvs_p": "p.Pro149fs",
"transcript": "ENST00000532649.5",
"protein_id": "ENSP00000435379.1",
"transcript_support_level": 1,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNND1",
"gene_hgnc_id": 2515,
"hgvs_c": "c.303delT",
"hgvs_p": "p.Pro102fs",
"transcript": "ENST00000415361.6",
"protein_id": "ENSP00000403518.2",
"transcript_support_level": 1,
"aa_start": 101,
"aa_end": null,
"aa_length": 867,
"cds_start": 303,
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"cds_length": 2604,
"cdna_start": 661,
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"cdna_length": 5832,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNND1",
"gene_hgnc_id": 2515,
"hgvs_c": "c.303delT",
"hgvs_p": "p.Pro102fs",
"transcript": "ENST00000530094.5",
"protein_id": "ENSP00000437327.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNND1",
"gene_hgnc_id": 2515,
"hgvs_c": "c.303delT",
"hgvs_p": "p.Pro102fs",
"transcript": "ENST00000532787.5",
"protein_id": "ENSP00000434949.1",
"transcript_support_level": 1,
"aa_start": 101,
"aa_end": null,
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"cdna_start": 661,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNND1",
"gene_hgnc_id": 2515,
"hgvs_c": "c.303delT",
"hgvs_p": "p.Pro102fs",
"transcript": "ENST00000528232.5",
"protein_id": "ENSP00000435266.1",
"transcript_support_level": 1,
"aa_start": 101,
"aa_end": null,
"aa_length": 838,
"cds_start": 303,
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"cdna_start": 661,
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"cdna_length": 5745,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "L",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNND1",
"gene_hgnc_id": 2515,
"hgvs_c": "c.303delT",
"hgvs_p": "p.Pro102fs",
"transcript": "ENST00000426142.6",
"protein_id": "ENSP00000409930.2",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNND1",
"gene_hgnc_id": 2515,
"hgvs_c": "c.303delT",
"hgvs_p": "p.Pro102fs",
"transcript": "ENST00000529986.5",
"protein_id": "ENSP00000437156.1",
"transcript_support_level": 1,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNND1",
"gene_hgnc_id": 2515,
"hgvs_c": "c.303delT",
"hgvs_p": "p.Pro102fs",
"transcript": "ENST00000532245.5",
"protein_id": "ENSP00000434017.1",
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"cdna_start": 589,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNND1",
"gene_hgnc_id": 2515,
"hgvs_c": "c.303delT",
"hgvs_p": "p.Pro102fs",
"transcript": "ENST00000532463.5",
"protein_id": "ENSP00000432075.1",
"transcript_support_level": 1,
"aa_start": 101,
"aa_end": null,
"aa_length": 832,
"cds_start": 303,
"cds_end": null,
"cds_length": 2499,
"cdna_start": 683,
"cdna_end": null,
"cdna_length": 5749,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288534",
"gene_hgnc_id": null,
"hgvs_c": "n.*757delT",
"hgvs_p": null,
"transcript": "ENST00000674060.2",
"protein_id": "ENSP00000501055.2",
"transcript_support_level": null,
"aa_start": null,
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"hgvs_c": "c.-13-5091delT",
"hgvs_p": null,
"transcript": "ENST00000533189.1",
"protein_id": "ENSP00000435242.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 125,
"cds_start": -4,
"cds_end": null,
"cds_length": 379,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 498,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNND1",
"gene_hgnc_id": 2515,
"hgvs_c": "c.*57delT",
"hgvs_p": null,
"transcript": "ENST00000530068.5",
"protein_id": "ENSP00000431600.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 127,
"cds_start": -4,
"cds_end": null,
"cds_length": 386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CTNND1",
"gene_hgnc_id": 2515,
"dbsnp": "rs1555053981",
"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": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 3.103,
"phylop100way_prediction": "Benign",
"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": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "ENST00000399050.10",
"gene_symbol": "CTNND1",
"hgnc_id": 2515,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.606delT",
"hgvs_p": "p.Pro203fs"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP5_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000674060.2",
"gene_symbol": "ENSG00000288534",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*757delT",
"hgvs_p": null
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP5_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NR_037646.1",
"gene_symbol": "TMX2-CTNND1",
"hgnc_id": 41992,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1165delT",
"hgvs_p": null
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP5_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000534647.2",
"gene_symbol": "ENSG00000254732",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1248delT",
"hgvs_p": null
}
],
"clinvar_disease": "Blepharocheilodontic syndrome 2",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Blepharocheilodontic syndrome 2",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}