← Back to variant description
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: 2-73986470-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=73986470&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 73986470,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001287491.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TET3",
"gene_hgnc_id": 28313,
"hgvs_c": "c.67C>T",
"hgvs_p": "p.Arg23Cys",
"transcript": "NM_001287491.2",
"protein_id": "NP_001274420.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 1795,
"cds_start": 67,
"cds_end": null,
"cds_length": 5388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000409262.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287491.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TET3",
"gene_hgnc_id": 28313,
"hgvs_c": "c.67C>T",
"hgvs_p": "p.Arg23Cys",
"transcript": "ENST00000409262.8",
"protein_id": "ENSP00000386869.3",
"transcript_support_level": 1,
"aa_start": 23,
"aa_end": null,
"aa_length": 1795,
"cds_start": 67,
"cds_end": null,
"cds_length": 5388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001287491.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409262.8"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TET3",
"gene_hgnc_id": 28313,
"hgvs_c": "c.67C>T",
"hgvs_p": "p.Arg23Cys",
"transcript": "XM_011532682.3",
"protein_id": "XP_011530984.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 1811,
"cds_start": 67,
"cds_end": null,
"cds_length": 5436,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532682.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TET3",
"gene_hgnc_id": 28313,
"hgvs_c": "c.67C>T",
"hgvs_p": "p.Arg23Cys",
"transcript": "XM_011532683.3",
"protein_id": "XP_011530985.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 1811,
"cds_start": 67,
"cds_end": null,
"cds_length": 5436,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532683.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TET3",
"gene_hgnc_id": 28313,
"hgvs_c": "c.67C>T",
"hgvs_p": "p.Arg23Cys",
"transcript": "XM_011532684.3",
"protein_id": "XP_011530986.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 1811,
"cds_start": 67,
"cds_end": null,
"cds_length": 5436,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532684.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TET3",
"gene_hgnc_id": 28313,
"hgvs_c": "c.67C>T",
"hgvs_p": "p.Arg23Cys",
"transcript": "XM_017003566.2",
"protein_id": "XP_016859055.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 1811,
"cds_start": 67,
"cds_end": null,
"cds_length": 5436,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003566.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TET3",
"gene_hgnc_id": 28313,
"hgvs_c": "c.67C>T",
"hgvs_p": "p.Arg23Cys",
"transcript": "XM_047443659.1",
"protein_id": "XP_047299615.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 1795,
"cds_start": 67,
"cds_end": null,
"cds_length": 5388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443659.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TET3",
"gene_hgnc_id": 28313,
"hgvs_c": "c.67C>T",
"hgvs_p": "p.Arg23Cys",
"transcript": "XM_047443660.1",
"protein_id": "XP_047299616.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 1795,
"cds_start": 67,
"cds_end": null,
"cds_length": 5388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443660.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TET3",
"gene_hgnc_id": 28313,
"hgvs_c": "c.67C>T",
"hgvs_p": "p.Arg23Cys",
"transcript": "XM_011532685.3",
"protein_id": "XP_011530987.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 1792,
"cds_start": 67,
"cds_end": null,
"cds_length": 5379,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532685.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TET3",
"gene_hgnc_id": 28313,
"hgvs_c": "c.67C>T",
"hgvs_p": "p.Arg23Cys",
"transcript": "XM_047443662.1",
"protein_id": "XP_047299618.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 1776,
"cds_start": 67,
"cds_end": null,
"cds_length": 5331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443662.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TET3",
"gene_hgnc_id": 28313,
"hgvs_c": "c.67C>T",
"hgvs_p": "p.Arg23Cys",
"transcript": "XM_024452745.2",
"protein_id": "XP_024308513.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 1105,
"cds_start": 67,
"cds_end": null,
"cds_length": 3318,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024452745.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TET3",
"gene_hgnc_id": 28313,
"hgvs_c": "c.67C>T",
"hgvs_p": "p.Arg23Cys",
"transcript": "XM_024452746.2",
"protein_id": "XP_024308514.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 1089,
"cds_start": 67,
"cds_end": null,
"cds_length": 3270,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024452746.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TET3",
"gene_hgnc_id": 28313,
"hgvs_c": "c.67C>T",
"hgvs_p": "p.Arg23Cys",
"transcript": "XM_011532688.3",
"protein_id": "XP_011530990.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 1050,
"cds_start": 67,
"cds_end": null,
"cds_length": 3153,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532688.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGUOK-AS1",
"gene_hgnc_id": 43441,
"hgvs_c": "n.142G>A",
"hgvs_p": null,
"transcript": "ENST00000804871.1",
"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": "ENST00000804871.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGUOK-AS1",
"gene_hgnc_id": 43441,
"hgvs_c": "n.191G>A",
"hgvs_p": null,
"transcript": "ENST00000804891.1",
"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": "ENST00000804891.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGUOK-AS1",
"gene_hgnc_id": 43441,
"hgvs_c": "n.92G>A",
"hgvs_p": null,
"transcript": "ENST00000804892.1",
"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": "ENST00000804892.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGUOK-AS1",
"gene_hgnc_id": 43441,
"hgvs_c": "n.91G>A",
"hgvs_p": null,
"transcript": "ENST00000804893.1",
"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": "ENST00000804893.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TET3",
"gene_hgnc_id": 28313,
"hgvs_c": "c.-317C>T",
"hgvs_p": null,
"transcript": "XM_011532690.2",
"protein_id": "XP_011530992.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 953,
"cds_start": null,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532690.2"
},
{
"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": "TET3",
"gene_hgnc_id": 28313,
"hgvs_c": "n.-56C>T",
"hgvs_p": null,
"transcript": "ENST00000496886.1",
"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": "ENST00000496886.1"
},
{
"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": "DGUOK-AS1",
"gene_hgnc_id": 43441,
"hgvs_c": "n.-156G>A",
"hgvs_p": null,
"transcript": "ENST00000804865.1",
"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": "ENST00000804865.1"
},
{
"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": "DGUOK-AS1",
"gene_hgnc_id": 43441,
"hgvs_c": "n.-44G>A",
"hgvs_p": null,
"transcript": "ENST00000804872.1",
"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": "ENST00000804872.1"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGUOK-AS1",
"gene_hgnc_id": 43441,
"hgvs_c": "n.-148G>A",
"hgvs_p": null,
"transcript": "ENST00000804873.1",
"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": "ENST00000804873.1"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGUOK-AS1",
"gene_hgnc_id": 43441,
"hgvs_c": "n.-183G>A",
"hgvs_p": null,
"transcript": "ENST00000804874.1",
"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": "ENST00000804874.1"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000235499",
"gene_hgnc_id": null,
"hgvs_c": "n.*127C>T",
"hgvs_p": null,
"transcript": "ENST00000441217.1",
"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": "ENST00000441217.1"
}
],
"gene_symbol": "TET3",
"gene_hgnc_id": 28313,
"dbsnp": "rs1684031108",
"frequency_reference_population": 0.0000064930637,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000463013,
"gnomad_genomes_af": 0.0000197109,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.13594287633895874,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": 0.1283,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.29,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.514,
"phylop100way_prediction": "Benign",
"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": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001287491.2",
"gene_symbol": "TET3",
"hgnc_id": 28313,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,SD,AR",
"hgvs_c": "c.67C>T",
"hgvs_p": "p.Arg23Cys"
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000804871.1",
"gene_symbol": "DGUOK-AS1",
"hgnc_id": 43441,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.142G>A",
"hgvs_p": null
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000441217.1",
"gene_symbol": "ENSG00000235499",
"hgnc_id": null,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*127C>T",
"hgvs_p": null
}
],
"clinvar_disease": "Beck-Fahrner syndrome",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Beck-Fahrner syndrome",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}