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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: 6-18143627-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=18143627&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 18143627,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_000367.5",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPMT",
"gene_hgnc_id": 12014,
"hgvs_c": "c.335T>A",
"hgvs_p": "p.Ile112Asn",
"transcript": "NM_000367.5",
"protein_id": "NP_000358.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 245,
"cds_start": 335,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000309983.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000367.5"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPMT",
"gene_hgnc_id": 12014,
"hgvs_c": "c.335T>A",
"hgvs_p": "p.Ile112Asn",
"transcript": "ENST00000309983.5",
"protein_id": "ENSP00000312304.4",
"transcript_support_level": 1,
"aa_start": 112,
"aa_end": null,
"aa_length": 245,
"cds_start": 335,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000367.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000309983.5"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPMT",
"gene_hgnc_id": 12014,
"hgvs_c": "c.335T>A",
"hgvs_p": "p.Ile112Asn",
"transcript": "NM_001346817.1",
"protein_id": "NP_001333746.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 245,
"cds_start": 335,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346817.1"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPMT",
"gene_hgnc_id": 12014,
"hgvs_c": "c.335T>A",
"hgvs_p": "p.Ile112Asn",
"transcript": "ENST00000864360.1",
"protein_id": "ENSP00000534419.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 245,
"cds_start": 335,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864360.1"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPMT",
"gene_hgnc_id": 12014,
"hgvs_c": "c.335T>A",
"hgvs_p": "p.Ile112Asn",
"transcript": "ENST00000864362.1",
"protein_id": "ENSP00000534421.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 245,
"cds_start": 335,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864362.1"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPMT",
"gene_hgnc_id": 12014,
"hgvs_c": "c.335T>A",
"hgvs_p": "p.Ile112Asn",
"transcript": "ENST00000864363.1",
"protein_id": "ENSP00000534422.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 245,
"cds_start": 335,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864363.1"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPMT",
"gene_hgnc_id": 12014,
"hgvs_c": "c.335T>A",
"hgvs_p": "p.Ile112Asn",
"transcript": "ENST00000864364.1",
"protein_id": "ENSP00000534423.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 245,
"cds_start": 335,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864364.1"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPMT",
"gene_hgnc_id": 12014,
"hgvs_c": "c.335T>A",
"hgvs_p": "p.Ile112Asn",
"transcript": "ENST00000864366.1",
"protein_id": "ENSP00000534425.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 245,
"cds_start": 335,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864366.1"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPMT",
"gene_hgnc_id": 12014,
"hgvs_c": "c.335T>A",
"hgvs_p": "p.Ile112Asn",
"transcript": "ENST00000864367.1",
"protein_id": "ENSP00000534426.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 245,
"cds_start": 335,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864367.1"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPMT",
"gene_hgnc_id": 12014,
"hgvs_c": "c.335T>A",
"hgvs_p": "p.Ile112Asn",
"transcript": "ENST00000864368.1",
"protein_id": "ENSP00000534427.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 245,
"cds_start": 335,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864368.1"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPMT",
"gene_hgnc_id": 12014,
"hgvs_c": "c.335T>A",
"hgvs_p": "p.Ile112Asn",
"transcript": "ENST00000864369.1",
"protein_id": "ENSP00000534428.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 245,
"cds_start": 335,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864369.1"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPMT",
"gene_hgnc_id": 12014,
"hgvs_c": "c.335T>A",
"hgvs_p": "p.Ile112Asn",
"transcript": "ENST00000864371.1",
"protein_id": "ENSP00000534430.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 245,
"cds_start": 335,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864371.1"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPMT",
"gene_hgnc_id": 12014,
"hgvs_c": "c.335T>A",
"hgvs_p": "p.Ile112Asn",
"transcript": "ENST00000929330.1",
"protein_id": "ENSP00000599389.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 245,
"cds_start": 335,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929330.1"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPMT",
"gene_hgnc_id": 12014,
"hgvs_c": "c.335T>A",
"hgvs_p": "p.Ile112Asn",
"transcript": "ENST00000963990.1",
"protein_id": "ENSP00000634049.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 245,
"cds_start": 335,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963990.1"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPMT",
"gene_hgnc_id": 12014,
"hgvs_c": "c.335T>A",
"hgvs_p": "p.Ile112Asn",
"transcript": "NM_001346818.1",
"protein_id": "NP_001333747.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 230,
"cds_start": 335,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346818.1"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPMT",
"gene_hgnc_id": 12014,
"hgvs_c": "c.335T>A",
"hgvs_p": "p.Ile112Asn",
"transcript": "ENST00000864361.1",
"protein_id": "ENSP00000534420.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 230,
"cds_start": 335,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864361.1"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPMT",
"gene_hgnc_id": 12014,
"hgvs_c": "c.335T>A",
"hgvs_p": "p.Ile112Asn",
"transcript": "ENST00000864370.1",
"protein_id": "ENSP00000534429.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 230,
"cds_start": 335,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864370.1"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPMT",
"gene_hgnc_id": 12014,
"hgvs_c": "c.335T>A",
"hgvs_p": "p.Ile112Asn",
"transcript": "ENST00000963991.1",
"protein_id": "ENSP00000634050.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 230,
"cds_start": 335,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963991.1"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPMT",
"gene_hgnc_id": 12014,
"hgvs_c": "c.335T>A",
"hgvs_p": "p.Ile112Asn",
"transcript": "ENST00000963992.1",
"protein_id": "ENSP00000634051.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 230,
"cds_start": 335,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963992.1"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPMT",
"gene_hgnc_id": 12014,
"hgvs_c": "c.335T>A",
"hgvs_p": "p.Ile112Asn",
"transcript": "ENST00000864365.1",
"protein_id": "ENSP00000534424.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 220,
"cds_start": 335,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864365.1"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPMT",
"gene_hgnc_id": 12014,
"hgvs_c": "c.242T>A",
"hgvs_p": "p.Ile81Asn",
"transcript": "ENST00000929331.1",
"protein_id": "ENSP00000599390.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 214,
"cds_start": 242,
"cds_end": null,
"cds_length": 645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929331.1"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPMT",
"gene_hgnc_id": 12014,
"hgvs_c": "c.335T>A",
"hgvs_p": "p.Ile112Asn",
"transcript": "XM_047419289.1",
"protein_id": "XP_047275245.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 245,
"cds_start": 335,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419289.1"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPMT",
"gene_hgnc_id": 12014,
"hgvs_c": "c.335T>A",
"hgvs_p": "p.Ile112Asn",
"transcript": "XM_047419290.1",
"protein_id": "XP_047275246.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 230,
"cds_start": 335,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419290.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000307971",
"gene_hgnc_id": null,
"hgvs_c": "n.268-5861A>T",
"hgvs_p": null,
"transcript": "ENST00000830125.1",
"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": "ENST00000830125.1"
}
],
"gene_symbol": "TPMT",
"gene_hgnc_id": 12014,
"dbsnp": "rs886061266",
"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": 0.6138095259666443,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.361,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.217,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.22,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.517,
"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": 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_000367.5",
"gene_symbol": "TPMT",
"hgnc_id": 12014,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.335T>A",
"hgvs_p": "p.Ile112Asn"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000830125.1",
"gene_symbol": "ENSG00000307971",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.268-5861A>T",
"hgvs_p": null
}
],
"clinvar_disease": "Thiopurine S-methyltransferase deficiency",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Thiopurine S-methyltransferase deficiency",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}