← 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: 2-120982840-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=120982840&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 120982840,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_005270.5",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLI2",
"gene_hgnc_id": 4318,
"hgvs_c": "c.1592C>T",
"hgvs_p": "p.Ser531Leu",
"transcript": "NM_001374353.1",
"protein_id": "NP_001361282.1",
"transcript_support_level": null,
"aa_start": 531,
"aa_end": null,
"aa_length": 1569,
"cds_start": 1592,
"cds_end": null,
"cds_length": 4710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000361492.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374353.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLI2",
"gene_hgnc_id": 4318,
"hgvs_c": "c.1592C>T",
"hgvs_p": "p.Ser531Leu",
"transcript": "ENST00000361492.9",
"protein_id": "ENSP00000354586.5",
"transcript_support_level": 1,
"aa_start": 531,
"aa_end": null,
"aa_length": 1569,
"cds_start": 1592,
"cds_end": null,
"cds_length": 4710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001374353.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361492.9"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLI2",
"gene_hgnc_id": 4318,
"hgvs_c": "c.1643C>T",
"hgvs_p": "p.Ser548Leu",
"transcript": "NM_001371271.1",
"protein_id": "NP_001358200.1",
"transcript_support_level": null,
"aa_start": 548,
"aa_end": null,
"aa_length": 1586,
"cds_start": 1643,
"cds_end": null,
"cds_length": 4761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371271.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLI2",
"gene_hgnc_id": 4318,
"hgvs_c": "c.1643C>T",
"hgvs_p": "p.Ser548Leu",
"transcript": "NM_005270.5",
"protein_id": "NP_005261.2",
"transcript_support_level": null,
"aa_start": 548,
"aa_end": null,
"aa_length": 1586,
"cds_start": 1643,
"cds_end": null,
"cds_length": 4761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005270.5"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLI2",
"gene_hgnc_id": 4318,
"hgvs_c": "c.1643C>T",
"hgvs_p": "p.Ser548Leu",
"transcript": "ENST00000452319.6",
"protein_id": "ENSP00000390436.1",
"transcript_support_level": 5,
"aa_start": 548,
"aa_end": null,
"aa_length": 1586,
"cds_start": 1643,
"cds_end": null,
"cds_length": 4761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000452319.6"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLI2",
"gene_hgnc_id": 4318,
"hgvs_c": "c.1586C>T",
"hgvs_p": "p.Ser529Leu",
"transcript": "ENST00000934404.1",
"protein_id": "ENSP00000604463.1",
"transcript_support_level": null,
"aa_start": 529,
"aa_end": null,
"aa_length": 1567,
"cds_start": 1586,
"cds_end": null,
"cds_length": 4704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934404.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLI2",
"gene_hgnc_id": 4318,
"hgvs_c": "c.1529C>T",
"hgvs_p": "p.Ser510Leu",
"transcript": "ENST00000934405.1",
"protein_id": "ENSP00000604464.1",
"transcript_support_level": null,
"aa_start": 510,
"aa_end": null,
"aa_length": 1548,
"cds_start": 1529,
"cds_end": null,
"cds_length": 4647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934405.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLI2",
"gene_hgnc_id": 4318,
"hgvs_c": "c.1406C>T",
"hgvs_p": "p.Ser469Leu",
"transcript": "ENST00000869361.1",
"protein_id": "ENSP00000539420.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 1507,
"cds_start": 1406,
"cds_end": null,
"cds_length": 4524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869361.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLI2",
"gene_hgnc_id": 4318,
"hgvs_c": "c.1217C>T",
"hgvs_p": "p.Ser406Leu",
"transcript": "NM_001374354.1",
"protein_id": "NP_001361283.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 1444,
"cds_start": 1217,
"cds_end": null,
"cds_length": 4335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374354.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLI2",
"gene_hgnc_id": 4318,
"hgvs_c": "c.1097C>T",
"hgvs_p": "p.Ser366Leu",
"transcript": "ENST00000934406.1",
"protein_id": "ENSP00000604465.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 1404,
"cds_start": 1097,
"cds_end": null,
"cds_length": 4215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934406.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLI2",
"gene_hgnc_id": 4318,
"hgvs_c": "c.1625C>T",
"hgvs_p": "p.Ser542Leu",
"transcript": "XM_011510969.3",
"protein_id": "XP_011509271.3",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 1580,
"cds_start": 1625,
"cds_end": null,
"cds_length": 4743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510969.3"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLI2",
"gene_hgnc_id": 4318,
"hgvs_c": "c.1592C>T",
"hgvs_p": "p.Ser531Leu",
"transcript": "XM_047443947.1",
"protein_id": "XP_047299903.1",
"transcript_support_level": null,
"aa_start": 531,
"aa_end": null,
"aa_length": 1569,
"cds_start": 1592,
"cds_end": null,
"cds_length": 4710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443947.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLI2",
"gene_hgnc_id": 4318,
"hgvs_c": "c.1574C>T",
"hgvs_p": "p.Ser525Leu",
"transcript": "XM_017003818.2",
"protein_id": "XP_016859307.2",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 1563,
"cds_start": 1574,
"cds_end": null,
"cds_length": 4692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003818.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLI2",
"gene_hgnc_id": 4318,
"hgvs_c": "c.1448C>T",
"hgvs_p": "p.Ser483Leu",
"transcript": "XM_011510971.3",
"protein_id": "XP_011509273.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 1521,
"cds_start": 1448,
"cds_end": null,
"cds_length": 4566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510971.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLI2",
"gene_hgnc_id": 4318,
"hgvs_c": "n.*691C>T",
"hgvs_p": null,
"transcript": "ENST00000341310.10",
"protein_id": "ENSP00000344473.6",
"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": "ENST00000341310.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLI2",
"gene_hgnc_id": 4318,
"hgvs_c": "n.*742C>T",
"hgvs_p": null,
"transcript": "ENST00000437950.5",
"protein_id": "ENSP00000415773.1",
"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": "ENST00000437950.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLI2",
"gene_hgnc_id": 4318,
"hgvs_c": "n.*742C>T",
"hgvs_p": null,
"transcript": "ENST00000438299.5",
"protein_id": "ENSP00000400593.1",
"transcript_support_level": 5,
"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": "ENST00000438299.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLI2",
"gene_hgnc_id": 4318,
"hgvs_c": "n.*742C>T",
"hgvs_p": null,
"transcript": "ENST00000445186.5",
"protein_id": "ENSP00000397488.1",
"transcript_support_level": 5,
"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": "ENST00000445186.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLI2",
"gene_hgnc_id": 4318,
"hgvs_c": "n.*691C>T",
"hgvs_p": null,
"transcript": "ENST00000452692.5",
"protein_id": "ENSP00000403715.1",
"transcript_support_level": 5,
"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": "ENST00000452692.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLI2",
"gene_hgnc_id": 4318,
"hgvs_c": "n.*691C>T",
"hgvs_p": null,
"transcript": "ENST00000341310.10",
"protein_id": "ENSP00000344473.6",
"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": "ENST00000341310.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLI2",
"gene_hgnc_id": 4318,
"hgvs_c": "n.*742C>T",
"hgvs_p": null,
"transcript": "ENST00000437950.5",
"protein_id": "ENSP00000415773.1",
"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": "ENST00000437950.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLI2",
"gene_hgnc_id": 4318,
"hgvs_c": "n.*742C>T",
"hgvs_p": null,
"transcript": "ENST00000438299.5",
"protein_id": "ENSP00000400593.1",
"transcript_support_level": 5,
"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": "ENST00000438299.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLI2",
"gene_hgnc_id": 4318,
"hgvs_c": "n.*742C>T",
"hgvs_p": null,
"transcript": "ENST00000445186.5",
"protein_id": "ENSP00000397488.1",
"transcript_support_level": 5,
"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": "ENST00000445186.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLI2",
"gene_hgnc_id": 4318,
"hgvs_c": "n.*691C>T",
"hgvs_p": null,
"transcript": "ENST00000452692.5",
"protein_id": "ENSP00000403715.1",
"transcript_support_level": 5,
"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": "ENST00000452692.5"
}
],
"gene_symbol": "GLI2",
"gene_hgnc_id": 4318,
"dbsnp": "rs1418648944",
"frequency_reference_population": 0.0000012391666,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 6.84101e-7,
"gnomad_genomes_af": 0.00000656961,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.898892343044281,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.553,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9984,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.895,
"phylop100way_prediction": "Pathogenic",
"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": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate,PP5",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "NM_005270.5",
"gene_symbol": "GLI2",
"hgnc_id": 4318,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1643C>T",
"hgvs_p": "p.Ser548Leu"
}
],
"clinvar_disease": "Inborn genetic diseases,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "LP:1 US:1",
"phenotype_combined": "Inborn genetic diseases|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}