← 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: 10-75022147-G-GGAA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=75022147&ref=G&alt=GGAA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 75022147,
"ref": "G",
"alt": "GGAA",
"effect": "conservative_inframe_insertion",
"transcript": "NM_012330.4",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "EN",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.3310_3312dupGAA",
"hgvs_p": "p.Glu1104dup",
"transcript": "NM_012330.4",
"protein_id": "NP_036462.2",
"transcript_support_level": null,
"aa_start": 1105,
"aa_end": null,
"aa_length": 2073,
"cds_start": 3313,
"cds_end": null,
"cds_length": 6222,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000287239.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012330.4"
},
{
"aa_ref": "N",
"aa_alt": "EN",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.3310_3312dupGAA",
"hgvs_p": "p.Glu1104dup",
"transcript": "ENST00000287239.10",
"protein_id": "ENSP00000287239.4",
"transcript_support_level": 1,
"aa_start": 1105,
"aa_end": null,
"aa_length": 2073,
"cds_start": 3313,
"cds_end": null,
"cds_length": 6222,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_012330.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000287239.10"
},
{
"aa_ref": "N",
"aa_alt": "EN",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.2761_2763dupGAA",
"hgvs_p": "p.Glu921dup",
"transcript": "ENST00000372711.2",
"protein_id": "ENSP00000361796.1",
"transcript_support_level": 1,
"aa_start": 922,
"aa_end": null,
"aa_length": 1890,
"cds_start": 2764,
"cds_end": null,
"cds_length": 5673,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372711.2"
},
{
"aa_ref": "N",
"aa_alt": "EN",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.3310_3312dupGAA",
"hgvs_p": "p.Glu1104dup",
"transcript": "NM_001370136.1",
"protein_id": "NP_001357065.1",
"transcript_support_level": null,
"aa_start": 1105,
"aa_end": null,
"aa_length": 2073,
"cds_start": 3313,
"cds_end": null,
"cds_length": 6222,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370136.1"
},
{
"aa_ref": "N",
"aa_alt": "EN",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.3310_3312dupGAA",
"hgvs_p": "p.Glu1104dup",
"transcript": "NM_001370137.1",
"protein_id": "NP_001357066.1",
"transcript_support_level": null,
"aa_start": 1105,
"aa_end": null,
"aa_length": 2073,
"cds_start": 3313,
"cds_end": null,
"cds_length": 6222,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370137.1"
},
{
"aa_ref": "N",
"aa_alt": "EN",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.3310_3312dupGAA",
"hgvs_p": "p.Glu1104dup",
"transcript": "ENST00000648725.1",
"protein_id": "ENSP00000497841.1",
"transcript_support_level": null,
"aa_start": 1105,
"aa_end": null,
"aa_length": 2073,
"cds_start": 3313,
"cds_end": null,
"cds_length": 6222,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648725.1"
},
{
"aa_ref": "N",
"aa_alt": "EN",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.3310_3312dupGAA",
"hgvs_p": "p.Glu1104dup",
"transcript": "ENST00000649463.1",
"protein_id": "ENSP00000497166.1",
"transcript_support_level": null,
"aa_start": 1105,
"aa_end": null,
"aa_length": 2073,
"cds_start": 3313,
"cds_end": null,
"cds_length": 6222,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649463.1"
},
{
"aa_ref": "N",
"aa_alt": "EN",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.3310_3312dupGAA",
"hgvs_p": "p.Glu1104dup",
"transcript": "ENST00000912235.1",
"protein_id": "ENSP00000582294.1",
"transcript_support_level": null,
"aa_start": 1105,
"aa_end": null,
"aa_length": 2073,
"cds_start": 3313,
"cds_end": null,
"cds_length": 6222,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912235.1"
},
{
"aa_ref": "N",
"aa_alt": "EN",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.3310_3312dupGAA",
"hgvs_p": "p.Glu1104dup",
"transcript": "ENST00000912237.1",
"protein_id": "ENSP00000582296.1",
"transcript_support_level": null,
"aa_start": 1105,
"aa_end": null,
"aa_length": 2073,
"cds_start": 3313,
"cds_end": null,
"cds_length": 6222,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912237.1"
},
{
"aa_ref": "N",
"aa_alt": "EN",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.3310_3312dupGAA",
"hgvs_p": "p.Glu1104dup",
"transcript": "ENST00000912239.1",
"protein_id": "ENSP00000582298.1",
"transcript_support_level": null,
"aa_start": 1105,
"aa_end": null,
"aa_length": 2073,
"cds_start": 3313,
"cds_end": null,
"cds_length": 6222,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912239.1"
},
{
"aa_ref": "N",
"aa_alt": "EN",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.3148_3150dupGAA",
"hgvs_p": "p.Glu1050dup",
"transcript": "ENST00000912236.1",
"protein_id": "ENSP00000582295.1",
"transcript_support_level": null,
"aa_start": 1051,
"aa_end": null,
"aa_length": 2019,
"cds_start": 3151,
"cds_end": null,
"cds_length": 6060,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912236.1"
},
{
"aa_ref": "N",
"aa_alt": "EN",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.2761_2763dupGAA",
"hgvs_p": "p.Glu921dup",
"transcript": "NM_001256468.2",
"protein_id": "NP_001243397.1",
"transcript_support_level": null,
"aa_start": 922,
"aa_end": null,
"aa_length": 1890,
"cds_start": 2764,
"cds_end": null,
"cds_length": 5673,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256468.2"
},
{
"aa_ref": "N",
"aa_alt": "EN",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.2761_2763dupGAA",
"hgvs_p": "p.Glu921dup",
"transcript": "NM_001370138.1",
"protein_id": "NP_001357067.1",
"transcript_support_level": null,
"aa_start": 922,
"aa_end": null,
"aa_length": 1890,
"cds_start": 2764,
"cds_end": null,
"cds_length": 5673,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370138.1"
},
{
"aa_ref": "N",
"aa_alt": "EN",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.2761_2763dupGAA",
"hgvs_p": "p.Glu921dup",
"transcript": "ENST00000372724.6",
"protein_id": "ENSP00000361809.2",
"transcript_support_level": 5,
"aa_start": 922,
"aa_end": null,
"aa_length": 1890,
"cds_start": 2764,
"cds_end": null,
"cds_length": 5673,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372724.6"
},
{
"aa_ref": "N",
"aa_alt": "EN",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.2434_2436dupGAA",
"hgvs_p": "p.Glu812dup",
"transcript": "NM_001256469.2",
"protein_id": "NP_001243398.1",
"transcript_support_level": null,
"aa_start": 813,
"aa_end": null,
"aa_length": 1781,
"cds_start": 2437,
"cds_end": null,
"cds_length": 5346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256469.2"
},
{
"aa_ref": "N",
"aa_alt": "EN",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.2434_2436dupGAA",
"hgvs_p": "p.Glu812dup",
"transcript": "NM_001370139.1",
"protein_id": "NP_001357068.1",
"transcript_support_level": null,
"aa_start": 813,
"aa_end": null,
"aa_length": 1781,
"cds_start": 2437,
"cds_end": null,
"cds_length": 5346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370139.1"
},
{
"aa_ref": "N",
"aa_alt": "EN",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.2434_2436dupGAA",
"hgvs_p": "p.Glu812dup",
"transcript": "NM_001370140.1",
"protein_id": "NP_001357069.1",
"transcript_support_level": null,
"aa_start": 813,
"aa_end": null,
"aa_length": 1781,
"cds_start": 2437,
"cds_end": null,
"cds_length": 5346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370140.1"
},
{
"aa_ref": "N",
"aa_alt": "EN",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.2434_2436dupGAA",
"hgvs_p": "p.Glu812dup",
"transcript": "NM_001370141.1",
"protein_id": "NP_001357070.1",
"transcript_support_level": null,
"aa_start": 813,
"aa_end": null,
"aa_length": 1781,
"cds_start": 2437,
"cds_end": null,
"cds_length": 5346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370141.1"
},
{
"aa_ref": "N",
"aa_alt": "EN",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.2434_2436dupGAA",
"hgvs_p": "p.Glu812dup",
"transcript": "NM_001370142.1",
"protein_id": "NP_001357071.1",
"transcript_support_level": null,
"aa_start": 813,
"aa_end": null,
"aa_length": 1781,
"cds_start": 2437,
"cds_end": null,
"cds_length": 5346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370142.1"
},
{
"aa_ref": "N",
"aa_alt": "EN",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.2434_2436dupGAA",
"hgvs_p": "p.Glu812dup",
"transcript": "ENST00000372714.6",
"protein_id": "ENSP00000361799.1",
"transcript_support_level": 5,
"aa_start": 813,
"aa_end": null,
"aa_length": 1781,
"cds_start": 2437,
"cds_end": null,
"cds_length": 5346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372714.6"
},
{
"aa_ref": "N",
"aa_alt": "EN",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.2434_2436dupGAA",
"hgvs_p": "p.Glu812dup",
"transcript": "ENST00000372725.6",
"protein_id": "ENSP00000361810.1",
"transcript_support_level": 5,
"aa_start": 813,
"aa_end": null,
"aa_length": 1781,
"cds_start": 2437,
"cds_end": null,
"cds_length": 5346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372725.6"
},
{
"aa_ref": "N",
"aa_alt": "EN",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.2434_2436dupGAA",
"hgvs_p": "p.Glu812dup",
"transcript": "ENST00000648892.1",
"protein_id": "ENSP00000497048.1",
"transcript_support_level": null,
"aa_start": 813,
"aa_end": null,
"aa_length": 1781,
"cds_start": 2437,
"cds_end": null,
"cds_length": 5346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648892.1"
},
{
"aa_ref": "N",
"aa_alt": "EN",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.2434_2436dupGAA",
"hgvs_p": "p.Glu812dup",
"transcript": "ENST00000649006.1",
"protein_id": "ENSP00000498139.1",
"transcript_support_level": null,
"aa_start": 813,
"aa_end": null,
"aa_length": 1781,
"cds_start": 2437,
"cds_end": null,
"cds_length": 5346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649006.1"
},
{
"aa_ref": "N",
"aa_alt": "EN",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.2434_2436dupGAA",
"hgvs_p": "p.Glu812dup",
"transcript": "ENST00000912234.1",
"protein_id": "ENSP00000582293.1",
"transcript_support_level": null,
"aa_start": 813,
"aa_end": null,
"aa_length": 1781,
"cds_start": 2437,
"cds_end": null,
"cds_length": 5346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912234.1"
},
{
"aa_ref": "N",
"aa_alt": "EN",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.2434_2436dupGAA",
"hgvs_p": "p.Glu812dup",
"transcript": "ENST00000912238.1",
"protein_id": "ENSP00000582297.1",
"transcript_support_level": null,
"aa_start": 813,
"aa_end": null,
"aa_length": 1781,
"cds_start": 2437,
"cds_end": null,
"cds_length": 5346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912238.1"
},
{
"aa_ref": "N",
"aa_alt": "EN",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.2434_2436dupGAA",
"hgvs_p": "p.Glu812dup",
"transcript": "ENST00000965830.1",
"protein_id": "ENSP00000635889.1",
"transcript_support_level": null,
"aa_start": 813,
"aa_end": null,
"aa_length": 1781,
"cds_start": 2437,
"cds_end": null,
"cds_length": 5346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965830.1"
},
{
"aa_ref": "N",
"aa_alt": "EN",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.2272_2274dupGAA",
"hgvs_p": "p.Glu758dup",
"transcript": "NM_001370132.1",
"protein_id": "NP_001357061.1",
"transcript_support_level": null,
"aa_start": 759,
"aa_end": null,
"aa_length": 1727,
"cds_start": 2275,
"cds_end": null,
"cds_length": 5184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370132.1"
},
{
"aa_ref": "N",
"aa_alt": "EN",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.2245_2247dupGAA",
"hgvs_p": "p.Glu749dup",
"transcript": "NM_001370143.1",
"protein_id": "NP_001357072.1",
"transcript_support_level": null,
"aa_start": 750,
"aa_end": null,
"aa_length": 1718,
"cds_start": 2248,
"cds_end": null,
"cds_length": 5157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370143.1"
},
{
"aa_ref": "N",
"aa_alt": "EN",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.2245_2247dupGAA",
"hgvs_p": "p.Glu749dup",
"transcript": "NM_001370144.1",
"protein_id": "NP_001357073.1",
"transcript_support_level": null,
"aa_start": 750,
"aa_end": null,
"aa_length": 1718,
"cds_start": 2248,
"cds_end": null,
"cds_length": 5157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370144.1"
},
{
"aa_ref": "N",
"aa_alt": "EN",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.1621_1623dupGAA",
"hgvs_p": "p.Glu541dup",
"transcript": "NM_001370133.1",
"protein_id": "NP_001357062.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 1510,
"cds_start": 1624,
"cds_end": null,
"cds_length": 4533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370133.1"
},
{
"aa_ref": "N",
"aa_alt": "EN",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.3310_3312dupGAA",
"hgvs_p": "p.Glu1104dup",
"transcript": "ENST00000648048.1",
"protein_id": "ENSP00000497325.1",
"transcript_support_level": null,
"aa_start": 1105,
"aa_end": null,
"aa_length": 1386,
"cds_start": 3313,
"cds_end": null,
"cds_length": 4161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648048.1"
},
{
"aa_ref": "N",
"aa_alt": "EN",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.1225_1227dupGAA",
"hgvs_p": "p.Glu409dup",
"transcript": "NM_001370134.1",
"protein_id": "NP_001357063.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 1378,
"cds_start": 1228,
"cds_end": null,
"cds_length": 4137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370134.1"
},
{
"aa_ref": "N",
"aa_alt": "EN",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.967_969dupGAA",
"hgvs_p": "p.Glu323dup",
"transcript": "NM_001370135.1",
"protein_id": "NP_001357064.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 1292,
"cds_start": 970,
"cds_end": null,
"cds_length": 3879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370135.1"
},
{
"aa_ref": "N",
"aa_alt": "EN",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.2761_2763dupGAA",
"hgvs_p": "p.Glu921dup",
"transcript": "ENST00000648370.1",
"protein_id": "ENSP00000497804.1",
"transcript_support_level": null,
"aa_start": 922,
"aa_end": null,
"aa_length": 1181,
"cds_start": 2764,
"cds_end": null,
"cds_length": 3548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648370.1"
},
{
"aa_ref": "N",
"aa_alt": "EN",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.2245_2247dupGAA",
"hgvs_p": "p.Glu749dup",
"transcript": "ENST00000650232.1",
"protein_id": "ENSP00000497570.1",
"transcript_support_level": null,
"aa_start": 750,
"aa_end": null,
"aa_length": 990,
"cds_start": 2248,
"cds_end": null,
"cds_length": 2974,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000650232.1"
},
{
"aa_ref": "N",
"aa_alt": "EN",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.2761_2763dupGAA",
"hgvs_p": "p.Glu921dup",
"transcript": "ENST00000649375.1",
"protein_id": "ENSP00000498141.1",
"transcript_support_level": null,
"aa_start": 922,
"aa_end": null,
"aa_length": 944,
"cds_start": 2764,
"cds_end": null,
"cds_length": 2837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649375.1"
},
{
"aa_ref": "N",
"aa_alt": "EN",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.3310_3312dupGAA",
"hgvs_p": "p.Glu1104dup",
"transcript": "XM_005269664.3",
"protein_id": "XP_005269721.1",
"transcript_support_level": null,
"aa_start": 1105,
"aa_end": null,
"aa_length": 2073,
"cds_start": 3313,
"cds_end": null,
"cds_length": 6222,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005269664.3"
},
{
"aa_ref": "N",
"aa_alt": "EN",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.3310_3312dupGAA",
"hgvs_p": "p.Glu1104dup",
"transcript": "XM_047424911.1",
"protein_id": "XP_047280867.1",
"transcript_support_level": null,
"aa_start": 1105,
"aa_end": null,
"aa_length": 2073,
"cds_start": 3313,
"cds_end": null,
"cds_length": 6222,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424911.1"
},
{
"aa_ref": "N",
"aa_alt": "EN",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.3310_3312dupGAA",
"hgvs_p": "p.Glu1104dup",
"transcript": "XM_047424912.1",
"protein_id": "XP_047280868.1",
"transcript_support_level": null,
"aa_start": 1105,
"aa_end": null,
"aa_length": 2073,
"cds_start": 3313,
"cds_end": null,
"cds_length": 6222,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424912.1"
},
{
"aa_ref": "N",
"aa_alt": "EN",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.3148_3150dupGAA",
"hgvs_p": "p.Glu1050dup",
"transcript": "XM_017016004.3",
"protein_id": "XP_016871493.1",
"transcript_support_level": null,
"aa_start": 1051,
"aa_end": null,
"aa_length": 2019,
"cds_start": 3151,
"cds_end": null,
"cds_length": 6060,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017016004.3"
},
{
"aa_ref": "N",
"aa_alt": "EN",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.3148_3150dupGAA",
"hgvs_p": "p.Glu1050dup",
"transcript": "XM_047424913.1",
"protein_id": "XP_047280869.1",
"transcript_support_level": null,
"aa_start": 1051,
"aa_end": null,
"aa_length": 2019,
"cds_start": 3151,
"cds_end": null,
"cds_length": 6060,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424913.1"
},
{
"aa_ref": "N",
"aa_alt": "EN",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.3148_3150dupGAA",
"hgvs_p": "p.Glu1050dup",
"transcript": "XM_047424915.1",
"protein_id": "XP_047280871.1",
"transcript_support_level": null,
"aa_start": 1051,
"aa_end": null,
"aa_length": 2019,
"cds_start": 3151,
"cds_end": null,
"cds_length": 6060,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424915.1"
},
{
"aa_ref": "N",
"aa_alt": "EN",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.2761_2763dupGAA",
"hgvs_p": "p.Glu921dup",
"transcript": "XM_047424916.1",
"protein_id": "XP_047280872.1",
"transcript_support_level": null,
"aa_start": 922,
"aa_end": null,
"aa_length": 1890,
"cds_start": 2764,
"cds_end": null,
"cds_length": 5673,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424916.1"
},
{
"aa_ref": "N",
"aa_alt": "EN",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.2761_2763dupGAA",
"hgvs_p": "p.Glu921dup",
"transcript": "XM_047424917.1",
"protein_id": "XP_047280873.1",
"transcript_support_level": null,
"aa_start": 922,
"aa_end": null,
"aa_length": 1890,
"cds_start": 2764,
"cds_end": null,
"cds_length": 5673,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424917.1"
},
{
"aa_ref": "N",
"aa_alt": "EN",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.2761_2763dupGAA",
"hgvs_p": "p.Glu921dup",
"transcript": "XM_047424918.1",
"protein_id": "XP_047280874.1",
"transcript_support_level": null,
"aa_start": 922,
"aa_end": null,
"aa_length": 1890,
"cds_start": 2764,
"cds_end": null,
"cds_length": 5673,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424918.1"
},
{
"aa_ref": "N",
"aa_alt": "EN",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.2761_2763dupGAA",
"hgvs_p": "p.Glu921dup",
"transcript": "XM_047424919.1",
"protein_id": "XP_047280875.1",
"transcript_support_level": null,
"aa_start": 922,
"aa_end": null,
"aa_length": 1890,
"cds_start": 2764,
"cds_end": null,
"cds_length": 5673,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424919.1"
},
{
"aa_ref": "N",
"aa_alt": "EN",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.2599_2601dupGAA",
"hgvs_p": "p.Glu867dup",
"transcript": "XM_047424920.1",
"protein_id": "XP_047280876.1",
"transcript_support_level": null,
"aa_start": 868,
"aa_end": null,
"aa_length": 1836,
"cds_start": 2602,
"cds_end": null,
"cds_length": 5511,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424920.1"
},
{
"aa_ref": "N",
"aa_alt": "EN",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.2599_2601dupGAA",
"hgvs_p": "p.Glu867dup",
"transcript": "XM_047424921.1",
"protein_id": "XP_047280877.1",
"transcript_support_level": null,
"aa_start": 868,
"aa_end": null,
"aa_length": 1836,
"cds_start": 2602,
"cds_end": null,
"cds_length": 5511,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424921.1"
},
{
"aa_ref": "N",
"aa_alt": "EN",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.2599_2601dupGAA",
"hgvs_p": "p.Glu867dup",
"transcript": "XM_047424922.1",
"protein_id": "XP_047280878.1",
"transcript_support_level": null,
"aa_start": 868,
"aa_end": null,
"aa_length": 1836,
"cds_start": 2602,
"cds_end": null,
"cds_length": 5511,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424922.1"
},
{
"aa_ref": "N",
"aa_alt": "EN",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.2434_2436dupGAA",
"hgvs_p": "p.Glu812dup",
"transcript": "XM_047424923.1",
"protein_id": "XP_047280879.1",
"transcript_support_level": null,
"aa_start": 813,
"aa_end": null,
"aa_length": 1781,
"cds_start": 2437,
"cds_end": null,
"cds_length": 5346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424923.1"
},
{
"aa_ref": "N",
"aa_alt": "EN",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.2434_2436dupGAA",
"hgvs_p": "p.Glu812dup",
"transcript": "XM_047424924.1",
"protein_id": "XP_047280880.1",
"transcript_support_level": null,
"aa_start": 813,
"aa_end": null,
"aa_length": 1781,
"cds_start": 2437,
"cds_end": null,
"cds_length": 5346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424924.1"
},
{
"aa_ref": "N",
"aa_alt": "EN",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.2434_2436dupGAA",
"hgvs_p": "p.Glu812dup",
"transcript": "XM_047424926.1",
"protein_id": "XP_047280882.1",
"transcript_support_level": null,
"aa_start": 813,
"aa_end": null,
"aa_length": 1781,
"cds_start": 2437,
"cds_end": null,
"cds_length": 5346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424926.1"
},
{
"aa_ref": "N",
"aa_alt": "EN",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.2434_2436dupGAA",
"hgvs_p": "p.Glu812dup",
"transcript": "XM_047424927.1",
"protein_id": "XP_047280883.1",
"transcript_support_level": null,
"aa_start": 813,
"aa_end": null,
"aa_length": 1781,
"cds_start": 2437,
"cds_end": null,
"cds_length": 5346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424927.1"
},
{
"aa_ref": "N",
"aa_alt": "EN",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.2272_2274dupGAA",
"hgvs_p": "p.Glu758dup",
"transcript": "XM_047424928.1",
"protein_id": "XP_047280884.1",
"transcript_support_level": null,
"aa_start": 759,
"aa_end": null,
"aa_length": 1727,
"cds_start": 2275,
"cds_end": null,
"cds_length": 5184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424928.1"
},
{
"aa_ref": "N",
"aa_alt": "EN",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.2272_2274dupGAA",
"hgvs_p": "p.Glu758dup",
"transcript": "XM_047424929.1",
"protein_id": "XP_047280885.1",
"transcript_support_level": null,
"aa_start": 759,
"aa_end": null,
"aa_length": 1727,
"cds_start": 2275,
"cds_end": null,
"cds_length": 5184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424929.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "n.5263_5265dupGAA",
"hgvs_p": null,
"transcript": "ENST00000490365.1",
"protein_id": null,
"transcript_support_level": 2,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000490365.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "n.3788_3790dupGAA",
"hgvs_p": null,
"transcript": "ENST00000648793.1",
"protein_id": null,
"transcript_support_level": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000648793.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "n.1625_1627dupGAA",
"hgvs_p": null,
"transcript": "ENST00000649305.1",
"protein_id": null,
"transcript_support_level": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000649305.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "n.2355_2357dupGAA",
"hgvs_p": null,
"transcript": "ENST00000650610.1",
"protein_id": null,
"transcript_support_level": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000650610.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000234149",
"gene_hgnc_id": null,
"hgvs_c": "n.65+2960_65+2962dupTTC",
"hgvs_p": null,
"transcript": "ENST00000413431.1",
"protein_id": null,
"transcript_support_level": 3,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000413431.1"
},
{
"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": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.*10_*11insGAA",
"hgvs_p": null,
"transcript": "ENST00000648899.1",
"protein_id": "ENSP00000497198.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 799,
"cds_start": null,
"cds_end": null,
"cds_length": 2402,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648899.1"
},
{
"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": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.*14_*15insGAA",
"hgvs_p": null,
"transcript": "ENST00000647637.1",
"protein_id": "ENSP00000497620.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 798,
"cds_start": null,
"cds_end": null,
"cds_length": 2398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647637.1"
},
{
"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": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.*24_*25insGAA",
"hgvs_p": null,
"transcript": "ENST00000648159.1",
"protein_id": "ENSP00000497197.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 795,
"cds_start": null,
"cds_end": null,
"cds_length": 2388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648159.1"
},
{
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.*49_*50insGAA",
"hgvs_p": null,
"transcript": "ENST00000647666.1",
"protein_id": "ENSP00000497307.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 732,
"cds_start": null,
"cds_end": null,
"cds_length": 2201,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647666.1"
},
{
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.*84_*85insGAA",
"hgvs_p": null,
"transcript": "ENST00000649657.1",
"protein_id": "ENSP00000497491.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 712,
"cds_start": null,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649657.1"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.*160_*161insGAA",
"hgvs_p": null,
"transcript": "ENST00000650048.1",
"protein_id": "ENSP00000497813.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 632,
"cds_start": null,
"cds_end": null,
"cds_length": 1901,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000650048.1"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.*31_*32insGAA",
"hgvs_p": null,
"transcript": "ENST00000648483.1",
"protein_id": "ENSP00000498153.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 521,
"cds_start": null,
"cds_end": null,
"cds_length": 1568,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648483.1"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "n.*193_*194insGAA",
"hgvs_p": null,
"transcript": "ENST00000647891.1",
"protein_id": null,
"transcript_support_level": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000647891.1"
},
{
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "n.*446_*447insGAA",
"hgvs_p": null,
"transcript": "ENST00000648369.1",
"protein_id": "ENSP00000496795.1",
"transcript_support_level": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000648369.1"
},
{
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "n.*180_*181insGAA",
"hgvs_p": null,
"transcript": "ENST00000650380.1",
"protein_id": null,
"transcript_support_level": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000650380.1"
}
],
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"dbsnp": "rs71929101",
"frequency_reference_population": 0.0063584205,
"hom_count_reference_population": 21,
"allele_count_reference_population": 10211,
"gnomad_exomes_af": 0.00646402,
"gnomad_genomes_af": 0.00533459,
"gnomad_exomes_ac": 9410,
"gnomad_genomes_ac": 801,
"gnomad_exomes_homalt": 19,
"gnomad_genomes_homalt": 2,
"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": 3.085,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP3,BP6_Very_Strong,BS2",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP3",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_012330.4",
"gene_symbol": "KAT6B",
"hgnc_id": 17582,
"effects": [
"conservative_inframe_insertion"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3310_3312dupGAA",
"hgvs_p": "p.Glu1104dup"
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000413431.1",
"gene_symbol": "ENSG00000234149",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.65+2960_65+2962dupTTC",
"hgvs_p": null
}
],
"clinvar_disease": "Genitopatellar syndrome,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3 B:2",
"phenotype_combined": "not specified|Genitopatellar syndrome|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}