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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: 10-12112930-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=12112930&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 12112930,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_018706.7",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHTKD1",
"gene_hgnc_id": 23537,
"hgvs_c": "c.2185G>A",
"hgvs_p": "p.Gly729Arg",
"transcript": "NM_018706.7",
"protein_id": "NP_061176.4",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 919,
"cds_start": 2185,
"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": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHTKD1",
"gene_hgnc_id": 23537,
"hgvs_c": "c.2185G>A",
"hgvs_p": "p.Gly729Arg",
"transcript": "ENST00000263035.9",
"protein_id": "ENSP00000263035.4",
"transcript_support_level": 1,
"aa_start": 729,
"aa_end": null,
"aa_length": 919,
"cds_start": 2185,
"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": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHTKD1",
"gene_hgnc_id": 23537,
"hgvs_c": "c.2266G>A",
"hgvs_p": "p.Gly756Arg",
"transcript": "ENST00000889958.1",
"protein_id": "ENSP00000560017.1",
"transcript_support_level": null,
"aa_start": 756,
"aa_end": null,
"aa_length": 946,
"cds_start": 2266,
"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": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHTKD1",
"gene_hgnc_id": 23537,
"hgvs_c": "c.2182G>A",
"hgvs_p": "p.Gly728Arg",
"transcript": "ENST00000940762.1",
"protein_id": "ENSP00000610821.1",
"transcript_support_level": null,
"aa_start": 728,
"aa_end": null,
"aa_length": 918,
"cds_start": 2182,
"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": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHTKD1",
"gene_hgnc_id": 23537,
"hgvs_c": "c.2170G>A",
"hgvs_p": "p.Gly724Arg",
"transcript": "ENST00000951900.1",
"protein_id": "ENSP00000621959.1",
"transcript_support_level": null,
"aa_start": 724,
"aa_end": null,
"aa_length": 914,
"cds_start": 2170,
"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": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHTKD1",
"gene_hgnc_id": 23537,
"hgvs_c": "c.2146G>A",
"hgvs_p": "p.Gly716Arg",
"transcript": "ENST00000951894.1",
"protein_id": "ENSP00000621953.1",
"transcript_support_level": null,
"aa_start": 716,
"aa_end": null,
"aa_length": 906,
"cds_start": 2146,
"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": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHTKD1",
"gene_hgnc_id": 23537,
"hgvs_c": "c.2098G>A",
"hgvs_p": "p.Gly700Arg",
"transcript": "ENST00000889962.1",
"protein_id": "ENSP00000560021.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 890,
"cds_start": 2098,
"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": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHTKD1",
"gene_hgnc_id": 23537,
"hgvs_c": "c.2080G>A",
"hgvs_p": "p.Gly694Arg",
"transcript": "ENST00000889960.1",
"protein_id": "ENSP00000560019.1",
"transcript_support_level": null,
"aa_start": 694,
"aa_end": null,
"aa_length": 884,
"cds_start": 2080,
"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": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHTKD1",
"gene_hgnc_id": 23537,
"hgvs_c": "c.2029G>A",
"hgvs_p": "p.Gly677Arg",
"transcript": "ENST00000889956.1",
"protein_id": "ENSP00000560015.1",
"transcript_support_level": null,
"aa_start": 677,
"aa_end": null,
"aa_length": 867,
"cds_start": 2029,
"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": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHTKD1",
"gene_hgnc_id": 23537,
"hgvs_c": "c.1927G>A",
"hgvs_p": "p.Gly643Arg",
"transcript": "ENST00000889955.1",
"protein_id": "ENSP00000560014.1",
"transcript_support_level": null,
"aa_start": 643,
"aa_end": null,
"aa_length": 833,
"cds_start": 1927,
"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": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHTKD1",
"gene_hgnc_id": 23537,
"hgvs_c": "c.1915G>A",
"hgvs_p": "p.Gly639Arg",
"transcript": "ENST00000889953.1",
"protein_id": "ENSP00000560012.1",
"transcript_support_level": null,
"aa_start": 639,
"aa_end": null,
"aa_length": 829,
"cds_start": 1915,
"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": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHTKD1",
"gene_hgnc_id": 23537,
"hgvs_c": "c.1834G>A",
"hgvs_p": "p.Gly612Arg",
"transcript": "ENST00000889961.1",
"protein_id": "ENSP00000560020.1",
"transcript_support_level": null,
"aa_start": 612,
"aa_end": null,
"aa_length": 802,
"cds_start": 1834,
"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": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHTKD1",
"gene_hgnc_id": 23537,
"hgvs_c": "c.1828G>A",
"hgvs_p": "p.Gly610Arg",
"transcript": "ENST00000951892.1",
"protein_id": "ENSP00000621951.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 800,
"cds_start": 1828,
"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": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHTKD1",
"gene_hgnc_id": 23537,
"hgvs_c": "c.1771G>A",
"hgvs_p": "p.Gly591Arg",
"transcript": "ENST00000951899.1",
"protein_id": "ENSP00000621958.1",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 781,
"cds_start": 1771,
"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": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHTKD1",
"gene_hgnc_id": 23537,
"hgvs_c": "c.1759G>A",
"hgvs_p": "p.Gly587Arg",
"transcript": "ENST00000951895.1",
"protein_id": "ENSP00000621954.1",
"transcript_support_level": null,
"aa_start": 587,
"aa_end": null,
"aa_length": 777,
"cds_start": 1759,
"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": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHTKD1",
"gene_hgnc_id": 23537,
"hgvs_c": "c.1657G>A",
"hgvs_p": "p.Gly553Arg",
"transcript": "ENST00000951893.1",
"protein_id": "ENSP00000621952.1",
"transcript_support_level": null,
"aa_start": 553,
"aa_end": null,
"aa_length": 743,
"cds_start": 1657,
"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": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHTKD1",
"gene_hgnc_id": 23537,
"hgvs_c": "c.1501G>A",
"hgvs_p": "p.Gly501Arg",
"transcript": "ENST00000940761.1",
"protein_id": "ENSP00000610820.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 691,
"cds_start": 1501,
"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": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHTKD1",
"gene_hgnc_id": 23537,
"hgvs_c": "c.1243G>A",
"hgvs_p": "p.Gly415Arg",
"transcript": "ENST00000889954.1",
"protein_id": "ENSP00000560013.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 605,
"cds_start": 1243,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889954.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHTKD1",
"gene_hgnc_id": 23537,
"hgvs_c": "c.1231G>A",
"hgvs_p": "p.Gly411Arg",
"transcript": "ENST00000951896.1",
"protein_id": "ENSP00000621955.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 601,
"cds_start": 1231,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951896.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHTKD1",
"gene_hgnc_id": 23537,
"hgvs_c": "c.1036G>A",
"hgvs_p": "p.Gly346Arg",
"transcript": "ENST00000951898.1",
"protein_id": "ENSP00000621957.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 536,
"cds_start": 1036,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951898.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHTKD1",
"gene_hgnc_id": 23537,
"hgvs_c": "c.*45G>A",
"hgvs_p": null,
"transcript": "ENST00000448829.1",
"protein_id": "ENSP00000398482.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 213,
"cds_start": null,
"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": 16,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "DHTKD1",
"gene_hgnc_id": 23537,
"hgvs_c": "c.2155-4743G>A",
"hgvs_p": null,
"transcript": "ENST00000889952.1",
"protein_id": "ENSP00000560011.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 864,
"cds_start": null,
"cds_end": null,
"cds_length": 2595,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"biotype": "protein_coding",
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},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
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"exon_count": 15,
"intron_rank": 11,
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"gene_symbol": "DHTKD1",
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"hgvs_c": "c.1999-4743G>A",
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"transcript": "ENST00000889957.1",
"protein_id": "ENSP00000560016.1",
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"cds_start": null,
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},
{
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"protein_coding": true,
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"intron_variant"
],
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"gene_symbol": "DHTKD1",
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"hgvs_c": "c.1885-4743G>A",
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"transcript": "ENST00000889959.1",
"protein_id": "ENSP00000560018.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 774,
"cds_start": null,
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"cds_length": 2325,
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"biotype": "protein_coding",
"feature": "ENST00000889959.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 12,
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"gene_symbol": "DHTKD1",
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"hgvs_c": "c.1201-4743G>A",
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"transcript": "ENST00000951897.1",
"protein_id": "ENSP00000621956.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 546,
"cds_start": null,
"cds_end": null,
"cds_length": 1641,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951897.1"
}
],
"gene_symbol": "DHTKD1",
"gene_hgnc_id": 23537,
"dbsnp": "rs117225135",
"frequency_reference_population": 0.0026642366,
"hom_count_reference_population": 12,
"allele_count_reference_population": 4292,
"gnomad_exomes_af": 0.00274825,
"gnomad_genomes_af": 0.00185915,
"gnomad_exomes_ac": 4009,
"gnomad_genomes_ac": 283,
"gnomad_exomes_homalt": 11,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.11351588368415833,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.235,
"revel_prediction": "Benign",
"alphamissense_score": 0.2244,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.16,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.913,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.06,
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PS3,PP5,BP4,BS1_Supporting,BS2",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 6,
"pathogenic_score": 5,
"criteria": [
"PS3",
"PP5",
"BP4",
"BS1_Supporting",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_018706.7",
"gene_symbol": "DHTKD1",
"hgnc_id": 23537,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.2185G>A",
"hgvs_p": "p.Gly729Arg"
}
],
"clinvar_disease": "2-aminoadipic 2-oxoadipic aciduria,Charcot-Marie-Tooth disease type 2A2,DHTKD1-related disorder,Inborn disorder of lysine and hydroxylysine metabolism,Inborn genetic diseases,Tip-toe gait,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "P:4 LP:10 US:4",
"phenotype_combined": "2-aminoadipic 2-oxoadipic aciduria|not provided|not specified|Inborn genetic diseases|Charcot-Marie-Tooth disease type 2A2|Tip-toe gait|Inborn disorder of lysine and hydroxylysine metabolism|DHTKD1-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}