← 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: 19-11174532-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=11174532&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 11174532,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000586659.6",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK2",
"gene_hgnc_id": 29300,
"hgvs_c": "c.2009C>T",
"hgvs_p": "p.Ala670Val",
"transcript": "NM_001136191.3",
"protein_id": "NP_001129663.1",
"transcript_support_level": null,
"aa_start": 670,
"aa_end": null,
"aa_length": 851,
"cds_start": 2009,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 2348,
"cdna_end": null,
"cdna_length": 5183,
"mane_select": "ENST00000586659.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK2",
"gene_hgnc_id": 29300,
"hgvs_c": "c.2009C>T",
"hgvs_p": "p.Ala670Val",
"transcript": "ENST00000586659.6",
"protein_id": "ENSP00000465650.1",
"transcript_support_level": 1,
"aa_start": 670,
"aa_end": null,
"aa_length": 851,
"cds_start": 2009,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 2348,
"cdna_end": null,
"cdna_length": 5183,
"mane_select": "NM_001136191.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK2",
"gene_hgnc_id": 29300,
"hgvs_c": "c.2033C>T",
"hgvs_p": "p.Ala678Val",
"transcript": "NM_001379548.1",
"protein_id": "NP_001366477.1",
"transcript_support_level": null,
"aa_start": 678,
"aa_end": null,
"aa_length": 859,
"cds_start": 2033,
"cds_end": null,
"cds_length": 2580,
"cdna_start": 2438,
"cdna_end": null,
"cdna_length": 5273,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK2",
"gene_hgnc_id": 29300,
"hgvs_c": "c.2033C>T",
"hgvs_p": "p.Ala678Val",
"transcript": "NM_001379549.1",
"protein_id": "NP_001366478.1",
"transcript_support_level": null,
"aa_start": 678,
"aa_end": null,
"aa_length": 859,
"cds_start": 2033,
"cds_end": null,
"cds_length": 2580,
"cdna_start": 2499,
"cdna_end": null,
"cdna_length": 5334,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK2",
"gene_hgnc_id": 29300,
"hgvs_c": "c.2033C>T",
"hgvs_p": "p.Ala678Val",
"transcript": "NM_001379550.1",
"protein_id": "NP_001366479.1",
"transcript_support_level": null,
"aa_start": 678,
"aa_end": null,
"aa_length": 859,
"cds_start": 2033,
"cds_end": null,
"cds_length": 2580,
"cdna_start": 2173,
"cdna_end": null,
"cdna_length": 5008,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK2",
"gene_hgnc_id": 29300,
"hgvs_c": "c.2033C>T",
"hgvs_p": "p.Ala678Val",
"transcript": "NM_001379551.1",
"protein_id": "NP_001366480.1",
"transcript_support_level": null,
"aa_start": 678,
"aa_end": null,
"aa_length": 859,
"cds_start": 2033,
"cds_end": null,
"cds_length": 2580,
"cdna_start": 2616,
"cdna_end": null,
"cdna_length": 5451,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK2",
"gene_hgnc_id": 29300,
"hgvs_c": "c.2033C>T",
"hgvs_p": "p.Ala678Val",
"transcript": "NM_001379552.1",
"protein_id": "NP_001366481.1",
"transcript_support_level": null,
"aa_start": 678,
"aa_end": null,
"aa_length": 859,
"cds_start": 2033,
"cds_end": null,
"cds_length": 2580,
"cdna_start": 2470,
"cdna_end": null,
"cdna_length": 5305,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK2",
"gene_hgnc_id": 29300,
"hgvs_c": "c.2033C>T",
"hgvs_p": "p.Ala678Val",
"transcript": "NM_001379553.1",
"protein_id": "NP_001366482.1",
"transcript_support_level": null,
"aa_start": 678,
"aa_end": null,
"aa_length": 859,
"cds_start": 2033,
"cds_end": null,
"cds_length": 2580,
"cdna_start": 2509,
"cdna_end": null,
"cdna_length": 5344,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK2",
"gene_hgnc_id": 29300,
"hgvs_c": "c.2033C>T",
"hgvs_p": "p.Ala678Val",
"transcript": "NM_001379554.1",
"protein_id": "NP_001366483.1",
"transcript_support_level": null,
"aa_start": 678,
"aa_end": null,
"aa_length": 859,
"cds_start": 2033,
"cds_end": null,
"cds_length": 2580,
"cdna_start": 2536,
"cdna_end": null,
"cdna_length": 5371,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK2",
"gene_hgnc_id": 29300,
"hgvs_c": "c.2033C>T",
"hgvs_p": "p.Ala678Val",
"transcript": "NM_015493.7",
"protein_id": "NP_056308.3",
"transcript_support_level": null,
"aa_start": 678,
"aa_end": null,
"aa_length": 859,
"cds_start": 2033,
"cds_end": null,
"cds_length": 2580,
"cdna_start": 2372,
"cdna_end": null,
"cdna_length": 5207,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK2",
"gene_hgnc_id": 29300,
"hgvs_c": "c.2033C>T",
"hgvs_p": "p.Ala678Val",
"transcript": "ENST00000589359.5",
"protein_id": "ENSP00000468002.1",
"transcript_support_level": 5,
"aa_start": 678,
"aa_end": null,
"aa_length": 859,
"cds_start": 2033,
"cds_end": null,
"cds_length": 2580,
"cdna_start": 2501,
"cdna_end": null,
"cdna_length": 3048,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK2",
"gene_hgnc_id": 29300,
"hgvs_c": "c.2009C>T",
"hgvs_p": "p.Ala670Val",
"transcript": "NM_001329451.2",
"protein_id": "NP_001316380.1",
"transcript_support_level": null,
"aa_start": 670,
"aa_end": null,
"aa_length": 851,
"cds_start": 2009,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 2414,
"cdna_end": null,
"cdna_length": 5249,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK2",
"gene_hgnc_id": 29300,
"hgvs_c": "c.2009C>T",
"hgvs_p": "p.Ala670Val",
"transcript": "NM_001379555.1",
"protein_id": "NP_001366484.1",
"transcript_support_level": null,
"aa_start": 670,
"aa_end": null,
"aa_length": 851,
"cds_start": 2009,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 2469,
"cdna_end": null,
"cdna_length": 5304,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK2",
"gene_hgnc_id": 29300,
"hgvs_c": "c.2009C>T",
"hgvs_p": "p.Ala670Val",
"transcript": "NM_001379556.1",
"protein_id": "NP_001366485.1",
"transcript_support_level": null,
"aa_start": 670,
"aa_end": null,
"aa_length": 851,
"cds_start": 2009,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 2475,
"cdna_end": null,
"cdna_length": 5310,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK2",
"gene_hgnc_id": 29300,
"hgvs_c": "c.2009C>T",
"hgvs_p": "p.Ala670Val",
"transcript": "NM_001379557.1",
"protein_id": "NP_001366486.1",
"transcript_support_level": null,
"aa_start": 670,
"aa_end": null,
"aa_length": 851,
"cds_start": 2009,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 2592,
"cdna_end": null,
"cdna_length": 5427,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK2",
"gene_hgnc_id": 29300,
"hgvs_c": "c.2009C>T",
"hgvs_p": "p.Ala670Val",
"transcript": "NM_001379558.1",
"protein_id": "NP_001366487.1",
"transcript_support_level": null,
"aa_start": 670,
"aa_end": null,
"aa_length": 851,
"cds_start": 2009,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 2653,
"cdna_end": null,
"cdna_length": 5488,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK2",
"gene_hgnc_id": 29300,
"hgvs_c": "c.2009C>T",
"hgvs_p": "p.Ala670Val",
"transcript": "NM_001379559.1",
"protein_id": "NP_001366488.1",
"transcript_support_level": null,
"aa_start": 670,
"aa_end": null,
"aa_length": 851,
"cds_start": 2009,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 2435,
"cdna_end": null,
"cdna_length": 5270,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK2",
"gene_hgnc_id": 29300,
"hgvs_c": "c.2009C>T",
"hgvs_p": "p.Ala670Val",
"transcript": "NM_001379560.1",
"protein_id": "NP_001366489.1",
"transcript_support_level": null,
"aa_start": 670,
"aa_end": null,
"aa_length": 851,
"cds_start": 2009,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 2596,
"cdna_end": null,
"cdna_length": 5431,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK2",
"gene_hgnc_id": 29300,
"hgvs_c": "c.2009C>T",
"hgvs_p": "p.Ala670Val",
"transcript": "NM_001379561.1",
"protein_id": "NP_001366490.1",
"transcript_support_level": null,
"aa_start": 670,
"aa_end": null,
"aa_length": 851,
"cds_start": 2009,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 2530,
"cdna_end": null,
"cdna_length": 5365,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK2",
"gene_hgnc_id": 29300,
"hgvs_c": "c.2009C>T",
"hgvs_p": "p.Ala670Val",
"transcript": "NM_001379562.1",
"protein_id": "NP_001366491.1",
"transcript_support_level": null,
"aa_start": 670,
"aa_end": null,
"aa_length": 851,
"cds_start": 2009,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 2512,
"cdna_end": null,
"cdna_length": 5347,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK2",
"gene_hgnc_id": 29300,
"hgvs_c": "c.2009C>T",
"hgvs_p": "p.Ala670Val",
"transcript": "NM_001379563.1",
"protein_id": "NP_001366492.1",
"transcript_support_level": null,
"aa_start": 670,
"aa_end": null,
"aa_length": 851,
"cds_start": 2009,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 2690,
"cdna_end": null,
"cdna_length": 5525,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK2",
"gene_hgnc_id": 29300,
"hgvs_c": "c.2009C>T",
"hgvs_p": "p.Ala670Val",
"transcript": "ENST00000589894.1",
"protein_id": "ENSP00000467029.1",
"transcript_support_level": 5,
"aa_start": 670,
"aa_end": null,
"aa_length": 841,
"cds_start": 2009,
"cds_end": null,
"cds_length": 2526,
"cdna_start": 2009,
"cdna_end": null,
"cdna_length": 2703,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK2",
"gene_hgnc_id": 29300,
"hgvs_c": "c.206C>T",
"hgvs_p": "p.Ala69Val",
"transcript": "ENST00000588787.5",
"protein_id": "ENSP00000464896.1",
"transcript_support_level": 5,
"aa_start": 69,
"aa_end": null,
"aa_length": 220,
"cds_start": 206,
"cds_end": null,
"cds_length": 663,
"cdna_start": 207,
"cdna_end": null,
"cdna_length": 2952,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK2",
"gene_hgnc_id": 29300,
"hgvs_c": "c.2033C>T",
"hgvs_p": "p.Ala678Val",
"transcript": "XM_047438569.1",
"protein_id": "XP_047294525.1",
"transcript_support_level": null,
"aa_start": 678,
"aa_end": null,
"aa_length": 859,
"cds_start": 2033,
"cds_end": null,
"cds_length": 2580,
"cdna_start": 2775,
"cdna_end": null,
"cdna_length": 5610,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK2",
"gene_hgnc_id": 29300,
"hgvs_c": "c.2033C>T",
"hgvs_p": "p.Ala678Val",
"transcript": "XM_047438570.1",
"protein_id": "XP_047294526.1",
"transcript_support_level": null,
"aa_start": 678,
"aa_end": null,
"aa_length": 859,
"cds_start": 2033,
"cds_end": null,
"cds_length": 2580,
"cdna_start": 2459,
"cdna_end": null,
"cdna_length": 5294,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK2",
"gene_hgnc_id": 29300,
"hgvs_c": "c.2033C>T",
"hgvs_p": "p.Ala678Val",
"transcript": "XM_047438571.1",
"protein_id": "XP_047294527.1",
"transcript_support_level": null,
"aa_start": 678,
"aa_end": null,
"aa_length": 859,
"cds_start": 2033,
"cds_end": null,
"cds_length": 2580,
"cdna_start": 2433,
"cdna_end": null,
"cdna_length": 5268,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK2",
"gene_hgnc_id": 29300,
"hgvs_c": "c.2009C>T",
"hgvs_p": "p.Ala670Val",
"transcript": "XM_047438572.1",
"protein_id": "XP_047294528.1",
"transcript_support_level": null,
"aa_start": 670,
"aa_end": null,
"aa_length": 851,
"cds_start": 2009,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 2751,
"cdna_end": null,
"cdna_length": 5586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK2",
"gene_hgnc_id": 29300,
"hgvs_c": "c.2009C>T",
"hgvs_p": "p.Ala670Val",
"transcript": "XM_047438573.1",
"protein_id": "XP_047294529.1",
"transcript_support_level": null,
"aa_start": 670,
"aa_end": null,
"aa_length": 851,
"cds_start": 2009,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 2149,
"cdna_end": null,
"cdna_length": 4984,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK2",
"gene_hgnc_id": 29300,
"hgvs_c": "c.2009C>T",
"hgvs_p": "p.Ala670Val",
"transcript": "XM_047438574.1",
"protein_id": "XP_047294530.1",
"transcript_support_level": null,
"aa_start": 670,
"aa_end": null,
"aa_length": 851,
"cds_start": 2009,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 2409,
"cdna_end": null,
"cdna_length": 5244,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK2",
"gene_hgnc_id": 29300,
"hgvs_c": "c.2009C>T",
"hgvs_p": "p.Ala670Val",
"transcript": "XM_047438575.1",
"protein_id": "XP_047294531.1",
"transcript_support_level": null,
"aa_start": 670,
"aa_end": null,
"aa_length": 851,
"cds_start": 2009,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 2685,
"cdna_end": null,
"cdna_length": 5520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK2",
"gene_hgnc_id": 29300,
"hgvs_c": "c.2009C>T",
"hgvs_p": "p.Ala670Val",
"transcript": "XM_047438576.1",
"protein_id": "XP_047294532.1",
"transcript_support_level": null,
"aa_start": 670,
"aa_end": null,
"aa_length": 851,
"cds_start": 2009,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 2446,
"cdna_end": null,
"cdna_length": 5281,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK2",
"gene_hgnc_id": 29300,
"hgvs_c": "c.2009C>T",
"hgvs_p": "p.Ala670Val",
"transcript": "XM_047438577.1",
"protein_id": "XP_047294533.1",
"transcript_support_level": null,
"aa_start": 670,
"aa_end": null,
"aa_length": 851,
"cds_start": 2009,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 2369,
"cdna_end": null,
"cdna_length": 5204,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "KANK2",
"gene_hgnc_id": 29300,
"dbsnp": "rs606231303",
"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": 0.9289892315864563,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.825,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.6525,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.07,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.588,
"phylop100way_prediction": "Pathogenic",
"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": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate,PP5",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000586659.6",
"gene_symbol": "KANK2",
"hgnc_id": 29300,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.2009C>T",
"hgvs_p": "p.Ala670Val"
}
],
"clinvar_disease": "Wooly hair-palmoplantar keratoderma syndrome",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Wooly hair-palmoplantar keratoderma syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}