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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: 5-81255059-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=81255059&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 81255059,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001825.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKMT2",
"gene_hgnc_id": 1996,
"hgvs_c": "c.514C>T",
"hgvs_p": "p.Arg172Cys",
"transcript": "NM_001099735.2",
"protein_id": "NP_001093205.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 419,
"cds_start": 514,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000254035.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001099735.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKMT2",
"gene_hgnc_id": 1996,
"hgvs_c": "c.514C>T",
"hgvs_p": "p.Arg172Cys",
"transcript": "ENST00000254035.9",
"protein_id": "ENSP00000254035.4",
"transcript_support_level": 1,
"aa_start": 172,
"aa_end": null,
"aa_length": 419,
"cds_start": 514,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001099735.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000254035.9"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKMT2",
"gene_hgnc_id": 1996,
"hgvs_c": "c.514C>T",
"hgvs_p": "p.Arg172Cys",
"transcript": "ENST00000424301.6",
"protein_id": "ENSP00000404203.2",
"transcript_support_level": 1,
"aa_start": 172,
"aa_end": null,
"aa_length": 419,
"cds_start": 514,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000424301.6"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKMT2",
"gene_hgnc_id": 1996,
"hgvs_c": "c.562C>T",
"hgvs_p": "p.Arg188Cys",
"transcript": "ENST00000865076.1",
"protein_id": "ENSP00000535135.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 435,
"cds_start": 562,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865076.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKMT2",
"gene_hgnc_id": 1996,
"hgvs_c": "c.535C>T",
"hgvs_p": "p.Arg179Cys",
"transcript": "ENST00000865071.1",
"protein_id": "ENSP00000535130.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 426,
"cds_start": 535,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865071.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKMT2",
"gene_hgnc_id": 1996,
"hgvs_c": "c.535C>T",
"hgvs_p": "p.Arg179Cys",
"transcript": "ENST00000865073.1",
"protein_id": "ENSP00000535132.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 426,
"cds_start": 535,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865073.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKMT2",
"gene_hgnc_id": 1996,
"hgvs_c": "c.535C>T",
"hgvs_p": "p.Arg179Cys",
"transcript": "ENST00000865079.1",
"protein_id": "ENSP00000535138.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 426,
"cds_start": 535,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865079.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKMT2",
"gene_hgnc_id": 1996,
"hgvs_c": "c.526C>T",
"hgvs_p": "p.Arg176Cys",
"transcript": "ENST00000865075.1",
"protein_id": "ENSP00000535134.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 423,
"cds_start": 526,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865075.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKMT2",
"gene_hgnc_id": 1996,
"hgvs_c": "c.526C>T",
"hgvs_p": "p.Arg176Cys",
"transcript": "ENST00000865080.1",
"protein_id": "ENSP00000535139.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 423,
"cds_start": 526,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865080.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKMT2",
"gene_hgnc_id": 1996,
"hgvs_c": "c.526C>T",
"hgvs_p": "p.Arg176Cys",
"transcript": "ENST00000953990.1",
"protein_id": "ENSP00000624049.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 423,
"cds_start": 526,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953990.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKMT2",
"gene_hgnc_id": 1996,
"hgvs_c": "c.514C>T",
"hgvs_p": "p.Arg172Cys",
"transcript": "NM_001099736.2",
"protein_id": "NP_001093206.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 419,
"cds_start": 514,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001099736.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKMT2",
"gene_hgnc_id": 1996,
"hgvs_c": "c.514C>T",
"hgvs_p": "p.Arg172Cys",
"transcript": "NM_001825.3",
"protein_id": "NP_001816.2",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 419,
"cds_start": 514,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001825.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKMT2",
"gene_hgnc_id": 1996,
"hgvs_c": "c.514C>T",
"hgvs_p": "p.Arg172Cys",
"transcript": "ENST00000437669.5",
"protein_id": "ENSP00000410289.1",
"transcript_support_level": 5,
"aa_start": 172,
"aa_end": null,
"aa_length": 419,
"cds_start": 514,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000437669.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKMT2",
"gene_hgnc_id": 1996,
"hgvs_c": "c.514C>T",
"hgvs_p": "p.Arg172Cys",
"transcript": "ENST00000865074.1",
"protein_id": "ENSP00000535133.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 419,
"cds_start": 514,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865074.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKMT2",
"gene_hgnc_id": 1996,
"hgvs_c": "c.514C>T",
"hgvs_p": "p.Arg172Cys",
"transcript": "ENST00000865078.1",
"protein_id": "ENSP00000535137.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 419,
"cds_start": 514,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865078.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKMT2",
"gene_hgnc_id": 1996,
"hgvs_c": "c.514C>T",
"hgvs_p": "p.Arg172Cys",
"transcript": "ENST00000865081.1",
"protein_id": "ENSP00000535140.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 419,
"cds_start": 514,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865081.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKMT2",
"gene_hgnc_id": 1996,
"hgvs_c": "c.514C>T",
"hgvs_p": "p.Arg172Cys",
"transcript": "ENST00000865082.1",
"protein_id": "ENSP00000535141.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 419,
"cds_start": 514,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865082.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKMT2",
"gene_hgnc_id": 1996,
"hgvs_c": "c.514C>T",
"hgvs_p": "p.Arg172Cys",
"transcript": "ENST00000953985.1",
"protein_id": "ENSP00000624044.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 419,
"cds_start": 514,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953985.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKMT2",
"gene_hgnc_id": 1996,
"hgvs_c": "c.514C>T",
"hgvs_p": "p.Arg172Cys",
"transcript": "ENST00000953987.1",
"protein_id": "ENSP00000624046.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 419,
"cds_start": 514,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953987.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKMT2",
"gene_hgnc_id": 1996,
"hgvs_c": "c.514C>T",
"hgvs_p": "p.Arg172Cys",
"transcript": "ENST00000953988.1",
"protein_id": "ENSP00000624047.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 419,
"cds_start": 514,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953988.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKMT2",
"gene_hgnc_id": 1996,
"hgvs_c": "c.514C>T",
"hgvs_p": "p.Arg172Cys",
"transcript": "ENST00000953989.1",
"protein_id": "ENSP00000624048.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 419,
"cds_start": 514,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953989.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKMT2",
"gene_hgnc_id": 1996,
"hgvs_c": "c.514C>T",
"hgvs_p": "p.Arg172Cys",
"transcript": "ENST00000953991.1",
"protein_id": "ENSP00000624050.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 419,
"cds_start": 514,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953991.1"
},
{
"aa_ref": "R",
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_034121.1"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CKMT2-AS1",
"gene_hgnc_id": 48997,
"hgvs_c": "n.284-4270G>A",
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"transcript": "NR_034122.1",
"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": "pseudogene",
"feature": "NR_034122.1"
},
{
"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": "CKMT2-AS1",
"gene_hgnc_id": 48997,
"hgvs_c": "n.284-15704G>A",
"hgvs_p": null,
"transcript": "NR_034123.1",
"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": "pseudogene",
"feature": "NR_034123.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKMT2",
"gene_hgnc_id": 1996,
"hgvs_c": "c.*2C>T",
"hgvs_p": null,
"transcript": "ENST00000511719.5",
"protein_id": "ENSP00000423264.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 169,
"cds_start": null,
"cds_end": null,
"cds_length": 512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000511719.5"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKMT2",
"gene_hgnc_id": 1996,
"hgvs_c": "n.*85C>T",
"hgvs_p": null,
"transcript": "ENST00000513094.5",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000513094.5"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKMT2",
"gene_hgnc_id": 1996,
"hgvs_c": "n.*19C>T",
"hgvs_p": null,
"transcript": "ENST00000515615.5",
"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": "ENST00000515615.5"
}
],
"gene_symbol": "CKMT2",
"gene_hgnc_id": 1996,
"dbsnp": "rs376567528",
"frequency_reference_population": 0.000014871529,
"hom_count_reference_population": 0,
"allele_count_reference_population": 24,
"gnomad_exomes_af": 0.0000136832,
"gnomad_genomes_af": 0.0000262847,
"gnomad_exomes_ac": 20,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8838348388671875,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.368,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.6481,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.01,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.699,
"phylop100way_prediction": "Uncertain_significance",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001825.3",
"gene_symbol": "CKMT2",
"hgnc_id": 1996,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.514C>T",
"hgvs_p": "p.Arg172Cys"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000500148.6",
"gene_symbol": "CKMT2-AS1",
"hgnc_id": 48997,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.259-4270G>A",
"hgvs_p": null
}
],
"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
}