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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: 15-43599236-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=43599236&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 43599236,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_020990.5",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKMT1B",
"gene_hgnc_id": 1995,
"hgvs_c": "c.1217T>G",
"hgvs_p": "p.Ile406Ser",
"transcript": "NM_001375484.1",
"protein_id": "NP_001362413.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 417,
"cds_start": 1217,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000441322.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375484.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKMT1B",
"gene_hgnc_id": 1995,
"hgvs_c": "c.1217T>G",
"hgvs_p": "p.Ile406Ser",
"transcript": "ENST00000441322.6",
"protein_id": "ENSP00000413255.2",
"transcript_support_level": 1,
"aa_start": 406,
"aa_end": null,
"aa_length": 417,
"cds_start": 1217,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001375484.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000441322.6"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKMT1B",
"gene_hgnc_id": 1995,
"hgvs_c": "c.1310T>G",
"hgvs_p": "p.Ile437Ser",
"transcript": "ENST00000882066.1",
"protein_id": "ENSP00000552125.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 448,
"cds_start": 1310,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882066.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKMT1B",
"gene_hgnc_id": 1995,
"hgvs_c": "c.1217T>G",
"hgvs_p": "p.Ile406Ser",
"transcript": "NM_020990.5",
"protein_id": "NP_066270.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 417,
"cds_start": 1217,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020990.5"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKMT1B",
"gene_hgnc_id": 1995,
"hgvs_c": "c.1217T>G",
"hgvs_p": "p.Ile406Ser",
"transcript": "ENST00000300283.10",
"protein_id": "ENSP00000300283.6",
"transcript_support_level": 5,
"aa_start": 406,
"aa_end": null,
"aa_length": 417,
"cds_start": 1217,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000300283.10"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKMT1B",
"gene_hgnc_id": 1995,
"hgvs_c": "c.1217T>G",
"hgvs_p": "p.Ile406Ser",
"transcript": "ENST00000882064.1",
"protein_id": "ENSP00000552123.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 417,
"cds_start": 1217,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882064.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKMT1B",
"gene_hgnc_id": 1995,
"hgvs_c": "c.1217T>G",
"hgvs_p": "p.Ile406Ser",
"transcript": "ENST00000882065.1",
"protein_id": "ENSP00000552124.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 417,
"cds_start": 1217,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882065.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKMT1B",
"gene_hgnc_id": 1995,
"hgvs_c": "c.1217T>G",
"hgvs_p": "p.Ile406Ser",
"transcript": "ENST00000882067.1",
"protein_id": "ENSP00000552126.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 417,
"cds_start": 1217,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882067.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKMT1B",
"gene_hgnc_id": 1995,
"hgvs_c": "c.1217T>G",
"hgvs_p": "p.Ile406Ser",
"transcript": "ENST00000882068.1",
"protein_id": "ENSP00000552127.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 417,
"cds_start": 1217,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882068.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKMT1B",
"gene_hgnc_id": 1995,
"hgvs_c": "c.1217T>G",
"hgvs_p": "p.Ile406Ser",
"transcript": "ENST00000934243.1",
"protein_id": "ENSP00000604302.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 417,
"cds_start": 1217,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934243.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKMT1B",
"gene_hgnc_id": 1995,
"hgvs_c": "c.1211T>G",
"hgvs_p": "p.Ile404Ser",
"transcript": "ENST00000941989.1",
"protein_id": "ENSP00000612048.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 415,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941989.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKMT1B",
"gene_hgnc_id": 1995,
"hgvs_c": "c.1124T>G",
"hgvs_p": "p.Ile375Ser",
"transcript": "ENST00000941988.1",
"protein_id": "ENSP00000612047.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 386,
"cds_start": 1124,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941988.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKMT1B",
"gene_hgnc_id": 1995,
"hgvs_c": "c.1091T>G",
"hgvs_p": "p.Ile364Ser",
"transcript": "ENST00000934246.1",
"protein_id": "ENSP00000604305.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 375,
"cds_start": 1091,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934246.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKMT1B",
"gene_hgnc_id": 1995,
"hgvs_c": "c.1082T>G",
"hgvs_p": "p.Ile361Ser",
"transcript": "ENST00000934245.1",
"protein_id": "ENSP00000604304.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 372,
"cds_start": 1082,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934245.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKMT1B",
"gene_hgnc_id": 1995,
"hgvs_c": "c.878T>G",
"hgvs_p": "p.Ile293Ser",
"transcript": "ENST00000934244.1",
"protein_id": "ENSP00000604303.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 304,
"cds_start": 878,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934244.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKMT1B",
"gene_hgnc_id": 1995,
"hgvs_c": "c.1310T>G",
"hgvs_p": "p.Ile437Ser",
"transcript": "XM_011521194.2",
"protein_id": "XP_011519496.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 448,
"cds_start": 1310,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521194.2"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKMT1B",
"gene_hgnc_id": 1995,
"hgvs_c": "c.1310T>G",
"hgvs_p": "p.Ile437Ser",
"transcript": "XM_011521195.3",
"protein_id": "XP_011519497.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 448,
"cds_start": 1310,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521195.3"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKMT1B",
"gene_hgnc_id": 1995,
"hgvs_c": "c.1310T>G",
"hgvs_p": "p.Ile437Ser",
"transcript": "XM_011521196.2",
"protein_id": "XP_011519498.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 448,
"cds_start": 1310,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521196.2"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKMT1B",
"gene_hgnc_id": 1995,
"hgvs_c": "c.1217T>G",
"hgvs_p": "p.Ile406Ser",
"transcript": "XM_047432132.1",
"protein_id": "XP_047288088.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 417,
"cds_start": 1217,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432132.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKMT1B",
"gene_hgnc_id": 1995,
"hgvs_c": "c.1217T>G",
"hgvs_p": "p.Ile406Ser",
"transcript": "XM_047432133.1",
"protein_id": "XP_047288089.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 417,
"cds_start": 1217,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432133.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKMT1B",
"gene_hgnc_id": 1995,
"hgvs_c": "c.740T>G",
"hgvs_p": "p.Ile247Ser",
"transcript": "XM_005254150.5",
"protein_id": "XP_005254207.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 258,
"cds_start": 740,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005254150.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKMT1B",
"gene_hgnc_id": 1995,
"hgvs_c": "n.*1137T>G",
"hgvs_p": null,
"transcript": "ENST00000437534.3",
"protein_id": "ENSP00000416717.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000437534.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKMT1B",
"gene_hgnc_id": 1995,
"hgvs_c": "n.2672T>G",
"hgvs_p": null,
"transcript": "NR_135748.1",
"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_135748.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKMT1B",
"gene_hgnc_id": 1995,
"hgvs_c": "n.2652T>G",
"hgvs_p": null,
"transcript": "NR_135749.1",
"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_135749.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKMT1B",
"gene_hgnc_id": 1995,
"hgvs_c": "n.2623T>G",
"hgvs_p": null,
"transcript": "NR_135750.2",
"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_135750.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKMT1B",
"gene_hgnc_id": 1995,
"hgvs_c": "n.2512T>G",
"hgvs_p": null,
"transcript": "NR_135751.1",
"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_135751.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKMT1B",
"gene_hgnc_id": 1995,
"hgvs_c": "n.2279T>G",
"hgvs_p": null,
"transcript": "NR_135752.1",
"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_135752.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKMT1B",
"gene_hgnc_id": 1995,
"hgvs_c": "n.*1137T>G",
"hgvs_p": null,
"transcript": "ENST00000437534.3",
"protein_id": "ENSP00000416717.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000437534.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKMT1B",
"gene_hgnc_id": 1995,
"hgvs_c": "n.-156T>G",
"hgvs_p": null,
"transcript": "ENST00000411560.1",
"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": "ENST00000411560.1"
}
],
"gene_symbol": "CKMT1B",
"gene_hgnc_id": 1995,
"dbsnp": "rs777719791",
"frequency_reference_population": 0.0000495819,
"hom_count_reference_population": 2,
"allele_count_reference_population": 80,
"gnomad_exomes_af": 0.0000526774,
"gnomad_genomes_af": 0.0000197675,
"gnomad_exomes_ac": 77,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8079749345779419,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.505,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.11,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 6.277,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3,BS2",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 4,
"pathogenic_score": 1,
"criteria": [
"PP3",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_020990.5",
"gene_symbol": "CKMT1B",
"hgnc_id": 1995,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1217T>G",
"hgvs_p": "p.Ile406Ser"
}
],
"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
}