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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: 2-229859211-ACT-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=229859211&ref=ACT&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 229859211,
"ref": "ACT",
"alt": "A",
"effect": "frameshift_variant",
"transcript": "NM_001348328.1",
"consequences": [
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP12",
"gene_hgnc_id": 12306,
"hgvs_c": "c.586_587delAG",
"hgvs_p": "p.Ser196fs",
"transcript": "NM_001348323.3",
"protein_id": "NP_001335252.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 2067,
"cds_start": 586,
"cds_end": null,
"cds_length": 6204,
"cdna_start": 766,
"cdna_end": null,
"cdna_length": 10100,
"mane_select": "ENST00000675903.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348323.3"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP12",
"gene_hgnc_id": 12306,
"hgvs_c": "c.586_587delAG",
"hgvs_p": "p.Ser196fs",
"transcript": "ENST00000675903.1",
"protein_id": "ENSP00000502713.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 2067,
"cds_start": 586,
"cds_end": null,
"cds_length": 6204,
"cdna_start": 766,
"cdna_end": null,
"cdna_length": 10100,
"mane_select": "NM_001348323.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675903.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP12",
"gene_hgnc_id": 12306,
"hgvs_c": "c.586_587delAG",
"hgvs_p": "p.Ser196fs",
"transcript": "ENST00000389044.8",
"protein_id": "ENSP00000373696.4",
"transcript_support_level": 1,
"aa_start": 196,
"aa_end": null,
"aa_length": 2040,
"cds_start": 586,
"cds_end": null,
"cds_length": 6123,
"cdna_start": 756,
"cdna_end": null,
"cdna_length": 6405,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000389044.8"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP12",
"gene_hgnc_id": 12306,
"hgvs_c": "c.460_461delAG",
"hgvs_p": "p.Ser154fs",
"transcript": "ENST00000283943.9",
"protein_id": "ENSP00000283943.4",
"transcript_support_level": 1,
"aa_start": 154,
"aa_end": null,
"aa_length": 1992,
"cds_start": 460,
"cds_end": null,
"cds_length": 5979,
"cdna_start": 640,
"cdna_end": null,
"cdna_length": 9874,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000283943.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TRIP12",
"gene_hgnc_id": 12306,
"hgvs_c": "c.98+20769_98+20770delAG",
"hgvs_p": null,
"transcript": "ENST00000389045.7",
"protein_id": "ENSP00000373697.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1722,
"cds_start": null,
"cds_end": null,
"cds_length": 5169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5355,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000389045.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP12",
"gene_hgnc_id": 12306,
"hgvs_c": "n.639_640delAG",
"hgvs_p": null,
"transcript": "ENST00000479037.5",
"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": 2938,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000479037.5"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP12",
"gene_hgnc_id": 12306,
"hgvs_c": "c.586_587delAG",
"hgvs_p": "p.Ser196fs",
"transcript": "NM_001348328.1",
"protein_id": "NP_001335257.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 2068,
"cds_start": 586,
"cds_end": null,
"cds_length": 6207,
"cdna_start": 766,
"cdna_end": null,
"cdna_length": 10103,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348328.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP12",
"gene_hgnc_id": 12306,
"hgvs_c": "c.586_587delAG",
"hgvs_p": "p.Ser196fs",
"transcript": "NM_001348329.2",
"protein_id": "NP_001335258.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 2068,
"cds_start": 586,
"cds_end": null,
"cds_length": 6207,
"cdna_start": 1117,
"cdna_end": null,
"cdna_length": 10454,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348329.2"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP12",
"gene_hgnc_id": 12306,
"hgvs_c": "c.586_587delAG",
"hgvs_p": "p.Ser196fs",
"transcript": "NM_001348330.2",
"protein_id": "NP_001335259.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 2068,
"cds_start": 586,
"cds_end": null,
"cds_length": 6207,
"cdna_start": 1155,
"cdna_end": null,
"cdna_length": 10492,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348330.2"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP12",
"gene_hgnc_id": 12306,
"hgvs_c": "c.586_587delAG",
"hgvs_p": "p.Ser196fs",
"transcript": "ENST00000675453.1",
"protein_id": "ENSP00000502271.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 2068,
"cds_start": 586,
"cds_end": null,
"cds_length": 6207,
"cdna_start": 766,
"cdna_end": null,
"cdna_length": 10103,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675453.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP12",
"gene_hgnc_id": 12306,
"hgvs_c": "c.586_587delAG",
"hgvs_p": "p.Ser196fs",
"transcript": "ENST00000855124.1",
"protein_id": "ENSP00000525183.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 2068,
"cds_start": 586,
"cds_end": null,
"cds_length": 6207,
"cdna_start": 713,
"cdna_end": null,
"cdna_length": 6670,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855124.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP12",
"gene_hgnc_id": 12306,
"hgvs_c": "c.586_587delAG",
"hgvs_p": "p.Ser196fs",
"transcript": "ENST00000932278.1",
"protein_id": "ENSP00000602337.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 2068,
"cds_start": 586,
"cds_end": null,
"cds_length": 6207,
"cdna_start": 720,
"cdna_end": null,
"cdna_length": 6682,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932278.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP12",
"gene_hgnc_id": 12306,
"hgvs_c": "c.586_587delAG",
"hgvs_p": "p.Ser196fs",
"transcript": "ENST00000932286.1",
"protein_id": "ENSP00000602345.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 2068,
"cds_start": 586,
"cds_end": null,
"cds_length": 6207,
"cdna_start": 886,
"cdna_end": null,
"cdna_length": 6844,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932286.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP12",
"gene_hgnc_id": 12306,
"hgvs_c": "c.586_587delAG",
"hgvs_p": "p.Ser196fs",
"transcript": "ENST00000960295.1",
"protein_id": "ENSP00000630354.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 2068,
"cds_start": 586,
"cds_end": null,
"cds_length": 6207,
"cdna_start": 877,
"cdna_end": null,
"cdna_length": 6839,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960295.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP12",
"gene_hgnc_id": 12306,
"hgvs_c": "c.586_587delAG",
"hgvs_p": "p.Ser196fs",
"transcript": "NM_001348322.1",
"protein_id": "NP_001335251.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 2067,
"cds_start": 586,
"cds_end": null,
"cds_length": 6204,
"cdna_start": 884,
"cdna_end": null,
"cdna_length": 10218,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348322.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP12",
"gene_hgnc_id": 12306,
"hgvs_c": "c.586_587delAG",
"hgvs_p": "p.Ser196fs",
"transcript": "NM_001348324.2",
"protein_id": "NP_001335253.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 2067,
"cds_start": 586,
"cds_end": null,
"cds_length": 6204,
"cdna_start": 862,
"cdna_end": null,
"cdna_length": 10196,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348324.2"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP12",
"gene_hgnc_id": 12306,
"hgvs_c": "c.586_587delAG",
"hgvs_p": "p.Ser196fs",
"transcript": "NM_001348325.2",
"protein_id": "NP_001335254.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 2067,
"cds_start": 586,
"cds_end": null,
"cds_length": 6204,
"cdna_start": 1277,
"cdna_end": null,
"cdna_length": 10611,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348325.2"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP12",
"gene_hgnc_id": 12306,
"hgvs_c": "c.586_587delAG",
"hgvs_p": "p.Ser196fs",
"transcript": "NM_001348326.2",
"protein_id": "NP_001335255.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 2067,
"cds_start": 586,
"cds_end": null,
"cds_length": 6204,
"cdna_start": 1152,
"cdna_end": null,
"cdna_length": 10486,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348326.2"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP12",
"gene_hgnc_id": 12306,
"hgvs_c": "c.586_587delAG",
"hgvs_p": "p.Ser196fs",
"transcript": "NM_001348327.2",
"protein_id": "NP_001335256.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 2067,
"cds_start": 586,
"cds_end": null,
"cds_length": 6204,
"cdna_start": 1155,
"cdna_end": null,
"cdna_length": 10489,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348327.2"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP12",
"gene_hgnc_id": 12306,
"hgvs_c": "c.586_587delAG",
"hgvs_p": "p.Ser196fs",
"transcript": "ENST00000675423.1",
"protein_id": "ENSP00000502768.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 2067,
"cds_start": 586,
"cds_end": null,
"cds_length": 6204,
"cdna_start": 859,
"cdna_end": null,
"cdna_length": 6645,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675423.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP12",
"gene_hgnc_id": 12306,
"hgvs_c": "c.586_587delAG",
"hgvs_p": "p.Ser196fs",
"transcript": "ENST00000704577.1",
"protein_id": "ENSP00000515952.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 2067,
"cds_start": 586,
"cds_end": null,
"cds_length": 6204,
"cdna_start": 867,
"cdna_end": null,
"cdna_length": 10129,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000704577.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP12",
"gene_hgnc_id": 12306,
"hgvs_c": "c.586_587delAG",
"hgvs_p": "p.Ser196fs",
"transcript": "ENST00000855119.1",
"protein_id": "ENSP00000525178.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 2067,
"cds_start": 586,
"cds_end": null,
"cds_length": 6204,
"cdna_start": 867,
"cdna_end": null,
"cdna_length": 6823,
"mane_select": null,
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"cdna_length": 2024,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000704586.1"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP12",
"gene_hgnc_id": 12306,
"hgvs_c": "c.*13_*14delAG",
"hgvs_p": null,
"transcript": "ENST00000428959.5",
"protein_id": "ENSP00000414385.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 148,
"cds_start": null,
"cds_end": null,
"cds_length": 447,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 584,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000428959.5"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP12",
"gene_hgnc_id": 12306,
"hgvs_c": "c.*163_*164delAG",
"hgvs_p": null,
"transcript": "ENST00000343290.5",
"protein_id": "ENSP00000342442.5",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 98,
"cds_start": null,
"cds_end": null,
"cds_length": 297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 583,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000343290.5"
}
],
"gene_symbol": "TRIP12",
"gene_hgnc_id": 12306,
"dbsnp": "rs1553704327",
"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": 1.491,
"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": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_001348328.1",
"gene_symbol": "TRIP12",
"hgnc_id": 12306,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.586_587delAG",
"hgvs_p": "p.Ser196fs"
}
],
"clinvar_disease": "Clark-Baraitser syndrome,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2",
"phenotype_combined": "Clark-Baraitser syndrome|not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}