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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: 10-12097780-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=12097780&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 12097780,
"ref": "T",
"alt": "G",
"effect": "stop_gained",
"transcript": "NM_018706.7",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHTKD1",
"gene_hgnc_id": 23537,
"hgvs_c": "c.1455T>G",
"hgvs_p": "p.Tyr485*",
"transcript": "NM_018706.7",
"protein_id": "NP_061176.4",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 919,
"cds_start": 1455,
"cds_end": null,
"cds_length": 2760,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000263035.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018706.7"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHTKD1",
"gene_hgnc_id": 23537,
"hgvs_c": "c.1455T>G",
"hgvs_p": "p.Tyr485*",
"transcript": "ENST00000263035.9",
"protein_id": "ENSP00000263035.4",
"transcript_support_level": 1,
"aa_start": 485,
"aa_end": null,
"aa_length": 919,
"cds_start": 1455,
"cds_end": null,
"cds_length": 2760,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018706.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263035.9"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHTKD1",
"gene_hgnc_id": 23537,
"hgvs_c": "c.1455T>G",
"hgvs_p": "p.Tyr485*",
"transcript": "ENST00000889958.1",
"protein_id": "ENSP00000560017.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 946,
"cds_start": 1455,
"cds_end": null,
"cds_length": 2841,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889958.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHTKD1",
"gene_hgnc_id": 23537,
"hgvs_c": "c.1455T>G",
"hgvs_p": "p.Tyr485*",
"transcript": "ENST00000940762.1",
"protein_id": "ENSP00000610821.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 918,
"cds_start": 1455,
"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": "ENST00000940762.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHTKD1",
"gene_hgnc_id": 23537,
"hgvs_c": "c.1440T>G",
"hgvs_p": "p.Tyr480*",
"transcript": "ENST00000951900.1",
"protein_id": "ENSP00000621959.1",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 914,
"cds_start": 1440,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951900.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHTKD1",
"gene_hgnc_id": 23537,
"hgvs_c": "c.1416T>G",
"hgvs_p": "p.Tyr472*",
"transcript": "ENST00000951894.1",
"protein_id": "ENSP00000621953.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 906,
"cds_start": 1416,
"cds_end": null,
"cds_length": 2721,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951894.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHTKD1",
"gene_hgnc_id": 23537,
"hgvs_c": "c.1368T>G",
"hgvs_p": "p.Tyr456*",
"transcript": "ENST00000889962.1",
"protein_id": "ENSP00000560021.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 890,
"cds_start": 1368,
"cds_end": null,
"cds_length": 2673,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889962.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHTKD1",
"gene_hgnc_id": 23537,
"hgvs_c": "c.1350T>G",
"hgvs_p": "p.Tyr450*",
"transcript": "ENST00000889960.1",
"protein_id": "ENSP00000560019.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 884,
"cds_start": 1350,
"cds_end": null,
"cds_length": 2655,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889960.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHTKD1",
"gene_hgnc_id": 23537,
"hgvs_c": "c.1299T>G",
"hgvs_p": "p.Tyr433*",
"transcript": "ENST00000889956.1",
"protein_id": "ENSP00000560015.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 867,
"cds_start": 1299,
"cds_end": null,
"cds_length": 2604,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889956.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHTKD1",
"gene_hgnc_id": 23537,
"hgvs_c": "c.1455T>G",
"hgvs_p": "p.Tyr485*",
"transcript": "ENST00000889952.1",
"protein_id": "ENSP00000560011.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 864,
"cds_start": 1455,
"cds_end": null,
"cds_length": 2595,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889952.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHTKD1",
"gene_hgnc_id": 23537,
"hgvs_c": "c.1455T>G",
"hgvs_p": "p.Tyr485*",
"transcript": "ENST00000889955.1",
"protein_id": "ENSP00000560014.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 833,
"cds_start": 1455,
"cds_end": null,
"cds_length": 2502,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889955.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHTKD1",
"gene_hgnc_id": 23537,
"hgvs_c": "c.1185T>G",
"hgvs_p": "p.Tyr395*",
"transcript": "ENST00000889953.1",
"protein_id": "ENSP00000560012.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 829,
"cds_start": 1185,
"cds_end": null,
"cds_length": 2490,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889953.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHTKD1",
"gene_hgnc_id": 23537,
"hgvs_c": "c.1299T>G",
"hgvs_p": "p.Tyr433*",
"transcript": "ENST00000889957.1",
"protein_id": "ENSP00000560016.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 812,
"cds_start": 1299,
"cds_end": null,
"cds_length": 2439,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889957.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHTKD1",
"gene_hgnc_id": 23537,
"hgvs_c": "c.1104T>G",
"hgvs_p": "p.Tyr368*",
"transcript": "ENST00000889961.1",
"protein_id": "ENSP00000560020.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 802,
"cds_start": 1104,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889961.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHTKD1",
"gene_hgnc_id": 23537,
"hgvs_c": "c.1098T>G",
"hgvs_p": "p.Tyr366*",
"transcript": "ENST00000951892.1",
"protein_id": "ENSP00000621951.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 800,
"cds_start": 1098,
"cds_end": null,
"cds_length": 2403,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951892.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHTKD1",
"gene_hgnc_id": 23537,
"hgvs_c": "c.1299T>G",
"hgvs_p": "p.Tyr433*",
"transcript": "ENST00000951899.1",
"protein_id": "ENSP00000621958.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 781,
"cds_start": 1299,
"cds_end": null,
"cds_length": 2346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951899.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHTKD1",
"gene_hgnc_id": 23537,
"hgvs_c": "c.1029T>G",
"hgvs_p": "p.Tyr343*",
"transcript": "ENST00000951895.1",
"protein_id": "ENSP00000621954.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 777,
"cds_start": 1029,
"cds_end": null,
"cds_length": 2334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951895.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHTKD1",
"gene_hgnc_id": 23537,
"hgvs_c": "c.1185T>G",
"hgvs_p": "p.Tyr395*",
"transcript": "ENST00000889959.1",
"protein_id": "ENSP00000560018.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 774,
"cds_start": 1185,
"cds_end": null,
"cds_length": 2325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889959.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHTKD1",
"gene_hgnc_id": 23537,
"hgvs_c": "c.1185T>G",
"hgvs_p": "p.Tyr395*",
"transcript": "ENST00000951893.1",
"protein_id": "ENSP00000621952.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 743,
"cds_start": 1185,
"cds_end": null,
"cds_length": 2232,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951893.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHTKD1",
"gene_hgnc_id": 23537,
"hgvs_c": "c.108T>G",
"hgvs_p": "p.Tyr36*",
"transcript": "ENST00000448829.1",
"protein_id": "ENSP00000398482.1",
"transcript_support_level": 5,
"aa_start": 36,
"aa_end": null,
"aa_length": 213,
"cds_start": 108,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000448829.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "DHTKD1",
"gene_hgnc_id": 23537,
"hgvs_c": "c.988-2398T>G",
"hgvs_p": null,
"transcript": "ENST00000940761.1",
"protein_id": "ENSP00000610820.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 691,
"cds_start": null,
"cds_end": null,
"cds_length": 2076,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940761.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "DHTKD1",
"gene_hgnc_id": 23537,
"hgvs_c": "c.988-2398T>G",
"hgvs_p": null,
"transcript": "ENST00000889954.1",
"protein_id": "ENSP00000560013.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 605,
"cds_start": null,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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{
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{
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"biotype": "pseudogene",
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],
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"dbsnp": "rs606231237",
"frequency_reference_population": 0.0000034202394,
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"gnomad_exomes_af": 0.00000342024,
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"gnomad_exomes_ac": 5,
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"gnomad_exomes_homalt": 0,
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"computational_score_selected": 0.10499999672174454,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.105,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.26,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": -0.691,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
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"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
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"acmg_score": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "NM_018706.7",
"gene_symbol": "DHTKD1",
"hgnc_id": 23537,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1455T>G",
"hgvs_p": "p.Tyr485*"
}
],
"clinvar_disease": "Charcot-Marie-Tooth disease axonal type 2Q,Charcot-Marie-Tooth disease type 2A2",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Charcot-Marie-Tooth disease axonal type 2Q|Charcot-Marie-Tooth disease type 2A2",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}