← Back to variant description
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: 10-75029376-A-AAG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=75029376&ref=A&alt=AAG&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 75029376,
"ref": "A",
"alt": "AAG",
"effect": "frameshift_variant",
"transcript": "ENST00000287239.10",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.4554_4555dupGA",
"hgvs_p": "p.Asn1519fs",
"transcript": "NM_012330.4",
"protein_id": "NP_036462.2",
"transcript_support_level": null,
"aa_start": 1519,
"aa_end": null,
"aa_length": 2073,
"cds_start": 4556,
"cds_end": null,
"cds_length": 6222,
"cdna_start": 5070,
"cdna_end": null,
"cdna_length": 8314,
"mane_select": "ENST00000287239.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "R?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.4554_4555dupGA",
"hgvs_p": "p.Asn1519fs",
"transcript": "ENST00000287239.10",
"protein_id": "ENSP00000287239.4",
"transcript_support_level": 1,
"aa_start": 1519,
"aa_end": null,
"aa_length": 2073,
"cds_start": 4556,
"cds_end": null,
"cds_length": 6222,
"cdna_start": 5070,
"cdna_end": null,
"cdna_length": 8314,
"mane_select": "NM_012330.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.4005_4006dupGA",
"hgvs_p": "p.Asn1336fs",
"transcript": "ENST00000372711.2",
"protein_id": "ENSP00000361796.1",
"transcript_support_level": 1,
"aa_start": 1336,
"aa_end": null,
"aa_length": 1890,
"cds_start": 4007,
"cds_end": null,
"cds_length": 5673,
"cdna_start": 4392,
"cdna_end": null,
"cdna_length": 7297,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.4554_4555dupGA",
"hgvs_p": "p.Asn1519fs",
"transcript": "NM_001370136.1",
"protein_id": "NP_001357065.1",
"transcript_support_level": null,
"aa_start": 1519,
"aa_end": null,
"aa_length": 2073,
"cds_start": 4556,
"cds_end": null,
"cds_length": 6222,
"cdna_start": 5080,
"cdna_end": null,
"cdna_length": 8324,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.4554_4555dupGA",
"hgvs_p": "p.Asn1519fs",
"transcript": "NM_001370137.1",
"protein_id": "NP_001357066.1",
"transcript_support_level": null,
"aa_start": 1519,
"aa_end": null,
"aa_length": 2073,
"cds_start": 4556,
"cds_end": null,
"cds_length": 6222,
"cdna_start": 5101,
"cdna_end": null,
"cdna_length": 8345,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.4554_4555dupGA",
"hgvs_p": "p.Asn1519fs",
"transcript": "ENST00000648725.1",
"protein_id": "ENSP00000497841.1",
"transcript_support_level": null,
"aa_start": 1519,
"aa_end": null,
"aa_length": 2073,
"cds_start": 4556,
"cds_end": null,
"cds_length": 6222,
"cdna_start": 5305,
"cdna_end": null,
"cdna_length": 8209,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.4554_4555dupGA",
"hgvs_p": "p.Asn1519fs",
"transcript": "ENST00000649463.1",
"protein_id": "ENSP00000497166.1",
"transcript_support_level": null,
"aa_start": 1519,
"aa_end": null,
"aa_length": 2073,
"cds_start": 4556,
"cds_end": null,
"cds_length": 6222,
"cdna_start": 5067,
"cdna_end": null,
"cdna_length": 7908,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.4005_4006dupGA",
"hgvs_p": "p.Asn1336fs",
"transcript": "NM_001256468.2",
"protein_id": "NP_001243397.1",
"transcript_support_level": null,
"aa_start": 1336,
"aa_end": null,
"aa_length": 1890,
"cds_start": 4007,
"cds_end": null,
"cds_length": 5673,
"cdna_start": 4521,
"cdna_end": null,
"cdna_length": 7765,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.4005_4006dupGA",
"hgvs_p": "p.Asn1336fs",
"transcript": "NM_001370138.1",
"protein_id": "NP_001357067.1",
"transcript_support_level": null,
"aa_start": 1336,
"aa_end": null,
"aa_length": 1890,
"cds_start": 4007,
"cds_end": null,
"cds_length": 5673,
"cdna_start": 4531,
"cdna_end": null,
"cdna_length": 7775,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.4005_4006dupGA",
"hgvs_p": "p.Asn1336fs",
"transcript": "ENST00000372724.6",
"protein_id": "ENSP00000361809.2",
"transcript_support_level": 5,
"aa_start": 1336,
"aa_end": null,
"aa_length": 1890,
"cds_start": 4007,
"cds_end": null,
"cds_length": 5673,
"cdna_start": 4672,
"cdna_end": null,
"cdna_length": 7571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.3678_3679dupGA",
"hgvs_p": "p.Asn1227fs",
"transcript": "NM_001256469.2",
"protein_id": "NP_001243398.1",
"transcript_support_level": null,
"aa_start": 1227,
"aa_end": null,
"aa_length": 1781,
"cds_start": 3680,
"cds_end": null,
"cds_length": 5346,
"cdna_start": 4194,
"cdna_end": null,
"cdna_length": 7438,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.3678_3679dupGA",
"hgvs_p": "p.Asn1227fs",
"transcript": "NM_001370139.1",
"protein_id": "NP_001357068.1",
"transcript_support_level": null,
"aa_start": 1227,
"aa_end": null,
"aa_length": 1781,
"cds_start": 3680,
"cds_end": null,
"cds_length": 5346,
"cdna_start": 4141,
"cdna_end": null,
"cdna_length": 7385,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.3678_3679dupGA",
"hgvs_p": "p.Asn1227fs",
"transcript": "NM_001370140.1",
"protein_id": "NP_001357069.1",
"transcript_support_level": null,
"aa_start": 1227,
"aa_end": null,
"aa_length": 1781,
"cds_start": 3680,
"cds_end": null,
"cds_length": 5346,
"cdna_start": 4204,
"cdna_end": null,
"cdna_length": 7448,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.3678_3679dupGA",
"hgvs_p": "p.Asn1227fs",
"transcript": "NM_001370141.1",
"protein_id": "NP_001357070.1",
"transcript_support_level": null,
"aa_start": 1227,
"aa_end": null,
"aa_length": 1781,
"cds_start": 3680,
"cds_end": null,
"cds_length": 5346,
"cdna_start": 4134,
"cdna_end": null,
"cdna_length": 7378,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.3678_3679dupGA",
"hgvs_p": "p.Asn1227fs",
"transcript": "NM_001370142.1",
"protein_id": "NP_001357071.1",
"transcript_support_level": null,
"aa_start": 1227,
"aa_end": null,
"aa_length": 1781,
"cds_start": 3680,
"cds_end": null,
"cds_length": 5346,
"cdna_start": 4124,
"cdna_end": null,
"cdna_length": 7368,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.3678_3679dupGA",
"hgvs_p": "p.Asn1227fs",
"transcript": "ENST00000372714.6",
"protein_id": "ENSP00000361799.1",
"transcript_support_level": 5,
"aa_start": 1227,
"aa_end": null,
"aa_length": 1781,
"cds_start": 3680,
"cds_end": null,
"cds_length": 5346,
"cdna_start": 4162,
"cdna_end": null,
"cdna_length": 5972,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.3678_3679dupGA",
"hgvs_p": "p.Asn1227fs",
"transcript": "ENST00000372725.6",
"protein_id": "ENSP00000361810.1",
"transcript_support_level": 5,
"aa_start": 1227,
"aa_end": null,
"aa_length": 1781,
"cds_start": 3680,
"cds_end": null,
"cds_length": 5346,
"cdna_start": 4114,
"cdna_end": null,
"cdna_length": 7027,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.3678_3679dupGA",
"hgvs_p": "p.Asn1227fs",
"transcript": "ENST00000648892.1",
"protein_id": "ENSP00000497048.1",
"transcript_support_level": null,
"aa_start": 1227,
"aa_end": null,
"aa_length": 1781,
"cds_start": 3680,
"cds_end": null,
"cds_length": 5346,
"cdna_start": 4381,
"cdna_end": null,
"cdna_length": 7625,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.3678_3679dupGA",
"hgvs_p": "p.Asn1227fs",
"transcript": "ENST00000649006.1",
"protein_id": "ENSP00000498139.1",
"transcript_support_level": null,
"aa_start": 1227,
"aa_end": null,
"aa_length": 1781,
"cds_start": 3680,
"cds_end": null,
"cds_length": 5346,
"cdna_start": 3990,
"cdna_end": null,
"cdna_length": 6847,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.3516_3517dupGA",
"hgvs_p": "p.Asn1173fs",
"transcript": "NM_001370132.1",
"protein_id": "NP_001357061.1",
"transcript_support_level": null,
"aa_start": 1173,
"aa_end": null,
"aa_length": 1727,
"cds_start": 3518,
"cds_end": null,
"cds_length": 5184,
"cdna_start": 4032,
"cdna_end": null,
"cdna_length": 7276,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.3489_3490dupGA",
"hgvs_p": "p.Asn1164fs",
"transcript": "NM_001370143.1",
"protein_id": "NP_001357072.1",
"transcript_support_level": null,
"aa_start": 1164,
"aa_end": null,
"aa_length": 1718,
"cds_start": 3491,
"cds_end": null,
"cds_length": 5157,
"cdna_start": 3945,
"cdna_end": null,
"cdna_length": 7189,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.3489_3490dupGA",
"hgvs_p": "p.Asn1164fs",
"transcript": "NM_001370144.1",
"protein_id": "NP_001357073.1",
"transcript_support_level": null,
"aa_start": 1164,
"aa_end": null,
"aa_length": 1718,
"cds_start": 3491,
"cds_end": null,
"cds_length": 5157,
"cdna_start": 4005,
"cdna_end": null,
"cdna_length": 7249,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.2865_2866dupGA",
"hgvs_p": "p.Asn956fs",
"transcript": "NM_001370133.1",
"protein_id": "NP_001357062.1",
"transcript_support_level": null,
"aa_start": 956,
"aa_end": null,
"aa_length": 1510,
"cds_start": 2867,
"cds_end": null,
"cds_length": 4533,
"cdna_start": 3391,
"cdna_end": null,
"cdna_length": 6635,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.2469_2470dupGA",
"hgvs_p": "p.Asn824fs",
"transcript": "NM_001370134.1",
"protein_id": "NP_001357063.1",
"transcript_support_level": null,
"aa_start": 824,
"aa_end": null,
"aa_length": 1378,
"cds_start": 2471,
"cds_end": null,
"cds_length": 4137,
"cdna_start": 3533,
"cdna_end": null,
"cdna_length": 6777,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.2211_2212dupGA",
"hgvs_p": "p.Asn738fs",
"transcript": "NM_001370135.1",
"protein_id": "NP_001357064.1",
"transcript_support_level": null,
"aa_start": 738,
"aa_end": null,
"aa_length": 1292,
"cds_start": 2213,
"cds_end": null,
"cds_length": 3879,
"cdna_start": 3265,
"cdna_end": null,
"cdna_length": 6509,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.4554_4555dupGA",
"hgvs_p": "p.Asn1519fs",
"transcript": "XM_005269664.3",
"protein_id": "XP_005269721.1",
"transcript_support_level": null,
"aa_start": 1519,
"aa_end": null,
"aa_length": 2073,
"cds_start": 4556,
"cds_end": null,
"cds_length": 6222,
"cdna_start": 5309,
"cdna_end": null,
"cdna_length": 8553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.4554_4555dupGA",
"hgvs_p": "p.Asn1519fs",
"transcript": "XM_047424911.1",
"protein_id": "XP_047280867.1",
"transcript_support_level": null,
"aa_start": 1519,
"aa_end": null,
"aa_length": 2073,
"cds_start": 4556,
"cds_end": null,
"cds_length": 6222,
"cdna_start": 5111,
"cdna_end": null,
"cdna_length": 8355,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.4554_4555dupGA",
"hgvs_p": "p.Asn1519fs",
"transcript": "XM_047424912.1",
"protein_id": "XP_047280868.1",
"transcript_support_level": null,
"aa_start": 1519,
"aa_end": null,
"aa_length": 2073,
"cds_start": 4556,
"cds_end": null,
"cds_length": 6222,
"cdna_start": 5340,
"cdna_end": null,
"cdna_length": 8584,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.4392_4393dupGA",
"hgvs_p": "p.Asn1465fs",
"transcript": "XM_017016004.3",
"protein_id": "XP_016871493.1",
"transcript_support_level": null,
"aa_start": 1465,
"aa_end": null,
"aa_length": 2019,
"cds_start": 4394,
"cds_end": null,
"cds_length": 6060,
"cdna_start": 4918,
"cdna_end": null,
"cdna_length": 8162,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.4392_4393dupGA",
"hgvs_p": "p.Asn1465fs",
"transcript": "XM_047424913.1",
"protein_id": "XP_047280869.1",
"transcript_support_level": null,
"aa_start": 1465,
"aa_end": null,
"aa_length": 2019,
"cds_start": 4394,
"cds_end": null,
"cds_length": 6060,
"cdna_start": 5147,
"cdna_end": null,
"cdna_length": 8391,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.4392_4393dupGA",
"hgvs_p": "p.Asn1465fs",
"transcript": "XM_047424915.1",
"protein_id": "XP_047280871.1",
"transcript_support_level": null,
"aa_start": 1465,
"aa_end": null,
"aa_length": 2019,
"cds_start": 4394,
"cds_end": null,
"cds_length": 6060,
"cdna_start": 4908,
"cdna_end": null,
"cdna_length": 8152,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.4005_4006dupGA",
"hgvs_p": "p.Asn1336fs",
"transcript": "XM_047424916.1",
"protein_id": "XP_047280872.1",
"transcript_support_level": null,
"aa_start": 1336,
"aa_end": null,
"aa_length": 1890,
"cds_start": 4007,
"cds_end": null,
"cds_length": 5673,
"cdna_start": 4760,
"cdna_end": null,
"cdna_length": 8004,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.4005_4006dupGA",
"hgvs_p": "p.Asn1336fs",
"transcript": "XM_047424917.1",
"protein_id": "XP_047280873.1",
"transcript_support_level": null,
"aa_start": 1336,
"aa_end": null,
"aa_length": 1890,
"cds_start": 4007,
"cds_end": null,
"cds_length": 5673,
"cdna_start": 4552,
"cdna_end": null,
"cdna_length": 7796,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.4005_4006dupGA",
"hgvs_p": "p.Asn1336fs",
"transcript": "XM_047424918.1",
"protein_id": "XP_047280874.1",
"transcript_support_level": null,
"aa_start": 1336,
"aa_end": null,
"aa_length": 1890,
"cds_start": 4007,
"cds_end": null,
"cds_length": 5673,
"cdna_start": 4562,
"cdna_end": null,
"cdna_length": 7806,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.4005_4006dupGA",
"hgvs_p": "p.Asn1336fs",
"transcript": "XM_047424919.1",
"protein_id": "XP_047280875.1",
"transcript_support_level": null,
"aa_start": 1336,
"aa_end": null,
"aa_length": 1890,
"cds_start": 4007,
"cds_end": null,
"cds_length": 5673,
"cdna_start": 4791,
"cdna_end": null,
"cdna_length": 8035,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.3843_3844dupGA",
"hgvs_p": "p.Asn1282fs",
"transcript": "XM_047424920.1",
"protein_id": "XP_047280876.1",
"transcript_support_level": null,
"aa_start": 1282,
"aa_end": null,
"aa_length": 1836,
"cds_start": 3845,
"cds_end": null,
"cds_length": 5511,
"cdna_start": 4369,
"cdna_end": null,
"cdna_length": 7613,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.3843_3844dupGA",
"hgvs_p": "p.Asn1282fs",
"transcript": "XM_047424921.1",
"protein_id": "XP_047280877.1",
"transcript_support_level": null,
"aa_start": 1282,
"aa_end": null,
"aa_length": 1836,
"cds_start": 3845,
"cds_end": null,
"cds_length": 5511,
"cdna_start": 4359,
"cdna_end": null,
"cdna_length": 7603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.3843_3844dupGA",
"hgvs_p": "p.Asn1282fs",
"transcript": "XM_047424922.1",
"protein_id": "XP_047280878.1",
"transcript_support_level": null,
"aa_start": 1282,
"aa_end": null,
"aa_length": 1836,
"cds_start": 3845,
"cds_end": null,
"cds_length": 5511,
"cdna_start": 4400,
"cdna_end": null,
"cdna_length": 7644,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.3678_3679dupGA",
"hgvs_p": "p.Asn1227fs",
"transcript": "XM_047424923.1",
"protein_id": "XP_047280879.1",
"transcript_support_level": null,
"aa_start": 1227,
"aa_end": null,
"aa_length": 1781,
"cds_start": 3680,
"cds_end": null,
"cds_length": 5346,
"cdna_start": 4433,
"cdna_end": null,
"cdna_length": 7677,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.3678_3679dupGA",
"hgvs_p": "p.Asn1227fs",
"transcript": "XM_047424924.1",
"protein_id": "XP_047280880.1",
"transcript_support_level": null,
"aa_start": 1227,
"aa_end": null,
"aa_length": 1781,
"cds_start": 3680,
"cds_end": null,
"cds_length": 5346,
"cdna_start": 4235,
"cdna_end": null,
"cdna_length": 7479,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.3678_3679dupGA",
"hgvs_p": "p.Asn1227fs",
"transcript": "XM_047424926.1",
"protein_id": "XP_047280882.1",
"transcript_support_level": null,
"aa_start": 1227,
"aa_end": null,
"aa_length": 1781,
"cds_start": 3680,
"cds_end": null,
"cds_length": 5346,
"cdna_start": 4225,
"cdna_end": null,
"cdna_length": 7469,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.3678_3679dupGA",
"hgvs_p": "p.Asn1227fs",
"transcript": "XM_047424927.1",
"protein_id": "XP_047280883.1",
"transcript_support_level": null,
"aa_start": 1227,
"aa_end": null,
"aa_length": 1781,
"cds_start": 3680,
"cds_end": null,
"cds_length": 5346,
"cdna_start": 4464,
"cdna_end": null,
"cdna_length": 7708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.3516_3517dupGA",
"hgvs_p": "p.Asn1173fs",
"transcript": "XM_047424928.1",
"protein_id": "XP_047280884.1",
"transcript_support_level": null,
"aa_start": 1173,
"aa_end": null,
"aa_length": 1727,
"cds_start": 3518,
"cds_end": null,
"cds_length": 5184,
"cdna_start": 4042,
"cdna_end": null,
"cdna_length": 7286,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.3516_3517dupGA",
"hgvs_p": "p.Asn1173fs",
"transcript": "XM_047424929.1",
"protein_id": "XP_047280885.1",
"transcript_support_level": null,
"aa_start": 1173,
"aa_end": null,
"aa_length": 1727,
"cds_start": 3518,
"cds_end": null,
"cds_length": 5184,
"cdna_start": 4271,
"cdna_end": null,
"cdna_length": 7515,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"dbsnp": "rs1554845880",
"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": 2.543,
"phylop100way_prediction": "Benign",
"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": 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": "ENST00000287239.10",
"gene_symbol": "KAT6B",
"hgnc_id": 17582,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.4554_4555dupGA",
"hgvs_p": "p.Asn1519fs"
}
],
"clinvar_disease": " SBBYS type,Blepharophimosis - intellectual disability syndrome",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Blepharophimosis - intellectual disability syndrome, SBBYS type",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}