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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 17-63524310-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=63524310&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 63524310,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_030779.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH6",
"gene_hgnc_id": 18862,
"hgvs_c": "c.248C>A",
"hgvs_p": "p.Ala83Glu",
"transcript": "NM_001278919.2",
"protein_id": "NP_001265848.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 958,
"cds_start": 248,
"cds_end": null,
"cds_length": 2877,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000314672.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278919.2"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH6",
"gene_hgnc_id": 18862,
"hgvs_c": "c.248C>A",
"hgvs_p": "p.Ala83Glu",
"transcript": "ENST00000314672.10",
"protein_id": "ENSP00000318212.5",
"transcript_support_level": 2,
"aa_start": 83,
"aa_end": null,
"aa_length": 958,
"cds_start": 248,
"cds_end": null,
"cds_length": 2877,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001278919.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000314672.10"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH6",
"gene_hgnc_id": 18862,
"hgvs_c": "c.248C>A",
"hgvs_p": "p.Ala83Glu",
"transcript": "ENST00000583023.1",
"protein_id": "ENSP00000463533.1",
"transcript_support_level": 1,
"aa_start": 83,
"aa_end": null,
"aa_length": 994,
"cds_start": 248,
"cds_end": null,
"cds_length": 2985,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000583023.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH6",
"gene_hgnc_id": 18862,
"hgvs_c": "c.248C>A",
"hgvs_p": "p.Ala83Glu",
"transcript": "ENST00000580652.5",
"protein_id": "ENSP00000464672.1",
"transcript_support_level": 1,
"aa_start": 83,
"aa_end": null,
"aa_length": 502,
"cds_start": 248,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000580652.5"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH6",
"gene_hgnc_id": 18862,
"hgvs_c": "c.248C>A",
"hgvs_p": "p.Ala83Glu",
"transcript": "NM_030779.4",
"protein_id": "NP_110406.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 994,
"cds_start": 248,
"cds_end": null,
"cds_length": 2985,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_030779.4"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH6",
"gene_hgnc_id": 18862,
"hgvs_c": "c.248C>A",
"hgvs_p": "p.Ala83Glu",
"transcript": "ENST00000913416.1",
"protein_id": "ENSP00000583475.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 958,
"cds_start": 248,
"cds_end": null,
"cds_length": 2877,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913416.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH6",
"gene_hgnc_id": 18862,
"hgvs_c": "c.248C>A",
"hgvs_p": "p.Ala83Glu",
"transcript": "ENST00000913417.1",
"protein_id": "ENSP00000583476.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 947,
"cds_start": 248,
"cds_end": null,
"cds_length": 2844,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913417.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH6",
"gene_hgnc_id": 18862,
"hgvs_c": "c.248C>A",
"hgvs_p": "p.Ala83Glu",
"transcript": "NM_173092.4",
"protein_id": "NP_775115.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 905,
"cds_start": 248,
"cds_end": null,
"cds_length": 2718,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_173092.4"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH6",
"gene_hgnc_id": 18862,
"hgvs_c": "c.248C>A",
"hgvs_p": "p.Ala83Glu",
"transcript": "ENST00000456941.6",
"protein_id": "ENSP00000396900.2",
"transcript_support_level": 5,
"aa_start": 83,
"aa_end": null,
"aa_length": 905,
"cds_start": 248,
"cds_end": null,
"cds_length": 2718,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000456941.6"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH6",
"gene_hgnc_id": 18862,
"hgvs_c": "c.248C>A",
"hgvs_p": "p.Ala83Glu",
"transcript": "ENST00000581784.5",
"protein_id": "ENSP00000463830.1",
"transcript_support_level": 2,
"aa_start": 83,
"aa_end": null,
"aa_length": 905,
"cds_start": 248,
"cds_end": null,
"cds_length": 2718,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000581784.5"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH6",
"gene_hgnc_id": 18862,
"hgvs_c": "c.248C>A",
"hgvs_p": "p.Ala83Glu",
"transcript": "XM_017025175.2",
"protein_id": "XP_016880664.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 994,
"cds_start": 248,
"cds_end": null,
"cds_length": 2985,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025175.2"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH6",
"gene_hgnc_id": 18862,
"hgvs_c": "c.248C>A",
"hgvs_p": "p.Ala83Glu",
"transcript": "XM_017025176.3",
"protein_id": "XP_016880665.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 983,
"cds_start": 248,
"cds_end": null,
"cds_length": 2952,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025176.3"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH6",
"gene_hgnc_id": 18862,
"hgvs_c": "c.248C>A",
"hgvs_p": "p.Ala83Glu",
"transcript": "XM_017025177.2",
"protein_id": "XP_016880666.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 958,
"cds_start": 248,
"cds_end": null,
"cds_length": 2877,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025177.2"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH6",
"gene_hgnc_id": 18862,
"hgvs_c": "c.248C>A",
"hgvs_p": "p.Ala83Glu",
"transcript": "XM_017025178.3",
"protein_id": "XP_016880667.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 947,
"cds_start": 248,
"cds_end": null,
"cds_length": 2844,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025178.3"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH6",
"gene_hgnc_id": 18862,
"hgvs_c": "c.248C>A",
"hgvs_p": "p.Ala83Glu",
"transcript": "XM_017025179.3",
"protein_id": "XP_016880668.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 941,
"cds_start": 248,
"cds_end": null,
"cds_length": 2826,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025179.3"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH6",
"gene_hgnc_id": 18862,
"hgvs_c": "c.248C>A",
"hgvs_p": "p.Ala83Glu",
"transcript": "XM_047436854.1",
"protein_id": "XP_047292810.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 930,
"cds_start": 248,
"cds_end": null,
"cds_length": 2793,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436854.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH6",
"gene_hgnc_id": 18862,
"hgvs_c": "c.248C>A",
"hgvs_p": "p.Ala83Glu",
"transcript": "XM_011525308.3",
"protein_id": "XP_011523610.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 918,
"cds_start": 248,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525308.3"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH6",
"gene_hgnc_id": 18862,
"hgvs_c": "c.248C>A",
"hgvs_p": "p.Ala83Glu",
"transcript": "XM_011525309.3",
"protein_id": "XP_011523611.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 915,
"cds_start": 248,
"cds_end": null,
"cds_length": 2748,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525309.3"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH6",
"gene_hgnc_id": 18862,
"hgvs_c": "c.248C>A",
"hgvs_p": "p.Ala83Glu",
"transcript": "XM_011525310.3",
"protein_id": "XP_011523612.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 905,
"cds_start": 248,
"cds_end": null,
"cds_length": 2718,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525310.3"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH6",
"gene_hgnc_id": 18862,
"hgvs_c": "c.248C>A",
"hgvs_p": "p.Ala83Glu",
"transcript": "XM_047436855.1",
"protein_id": "XP_047292811.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 894,
"cds_start": 248,
"cds_end": null,
"cds_length": 2685,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436855.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH6",
"gene_hgnc_id": 18862,
"hgvs_c": "c.248C>A",
"hgvs_p": "p.Ala83Glu",
"transcript": "XM_047436856.1",
"protein_id": "XP_047292812.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 882,
"cds_start": 248,
"cds_end": null,
"cds_length": 2649,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436856.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH6",
"gene_hgnc_id": 18862,
"hgvs_c": "c.248C>A",
"hgvs_p": "p.Ala83Glu",
"transcript": "XM_011525311.2",
"protein_id": "XP_011523613.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 726,
"cds_start": 248,
"cds_end": null,
"cds_length": 2181,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525311.2"
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{
"aa_ref": "A",
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"protein_coding": true,
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],
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"exon_count": 10,
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "XM_011525312.2"
},
{
"aa_ref": "A",
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"protein_coding": true,
"strand": true,
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"missense_variant"
],
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"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "KCNH6",
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"hgvs_c": "c.248C>A",
"hgvs_p": "p.Ala83Glu",
"transcript": "XM_011525313.2",
"protein_id": "XP_011523615.1",
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"biotype": "protein_coding",
"feature": "XM_011525313.2"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
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"gene_symbol": "KCNH6",
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"hgvs_c": "c.-63+74C>A",
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"transcript": "NM_001278920.2",
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"aa_end": null,
"aa_length": 835,
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"cds_length": 2508,
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"biotype": "protein_coding",
"feature": "NM_001278920.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 14,
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"gene_symbol": "KCNH6",
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"transcript": "XM_017025180.3",
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"biotype": "protein_coding",
"feature": "XM_017025180.3"
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"gene_symbol": "KCNH6",
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"transcript": "XR_934568.2",
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"aa_length": null,
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"biotype": "pseudogene",
"feature": "XR_934568.2"
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 13,
"intron_rank": 2,
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"gene_symbol": "KCNH6",
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"hgvs_c": "n.174+74C>A",
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"transcript": "ENST00000583465.1",
"protein_id": "ENSP00000462417.1",
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"aa_end": null,
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"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": "ENST00000583465.1"
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],
"gene_symbol": "KCNH6",
"gene_hgnc_id": 18862,
"dbsnp": null,
"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": 0.5581730604171753,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.682,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.2203,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.09,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 3.303,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_030779.4",
"gene_symbol": "KCNH6",
"hgnc_id": 18862,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.248C>A",
"hgvs_p": "p.Ala83Glu"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}