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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: 2-120988558-ACG-TCA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=120988558&ref=ACG&alt=TCA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "GLI2",
"hgnc_id": 4318,
"hgvs_c": "c.2644_2646delACGinsTCA",
"hgvs_p": "p.Thr882Ser",
"inheritance_mode": "AD,AR",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_005270.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TCA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1569,
"aa_ref": "T",
"aa_start": 865,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7136,
"cdna_start": 3041,
"cds_end": null,
"cds_length": 4710,
"cds_start": 2593,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001374353.1",
"gene_hgnc_id": 4318,
"gene_symbol": "GLI2",
"hgvs_c": "c.2593_2595delACGinsTCA",
"hgvs_p": "p.Thr865Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000361492.9",
"protein_coding": true,
"protein_id": "NP_001361282.1",
"strand": true,
"transcript": "NM_001374353.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1569,
"aa_ref": "T",
"aa_start": 865,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7136,
"cdna_start": 3041,
"cds_end": null,
"cds_length": 4710,
"cds_start": 2593,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000361492.9",
"gene_hgnc_id": 4318,
"gene_symbol": "GLI2",
"hgvs_c": "c.2593_2595delACGinsTCA",
"hgvs_p": "p.Thr865Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001374353.1",
"protein_coding": true,
"protein_id": "ENSP00000354586.5",
"strand": true,
"transcript": "ENST00000361492.9",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1586,
"aa_ref": "T",
"aa_start": 882,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7187,
"cdna_start": 3092,
"cds_end": null,
"cds_length": 4761,
"cds_start": 2644,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001371271.1",
"gene_hgnc_id": 4318,
"gene_symbol": "GLI2",
"hgvs_c": "c.2644_2646delACGinsTCA",
"hgvs_p": "p.Thr882Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001358200.1",
"strand": true,
"transcript": "NM_001371271.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1586,
"aa_ref": "T",
"aa_start": 882,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6927,
"cdna_start": 2832,
"cds_end": null,
"cds_length": 4761,
"cds_start": 2644,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_005270.5",
"gene_hgnc_id": 4318,
"gene_symbol": "GLI2",
"hgvs_c": "c.2644_2646delACGinsTCA",
"hgvs_p": "p.Thr882Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_005261.2",
"strand": true,
"transcript": "NM_005270.5",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1586,
"aa_ref": "T",
"aa_start": 882,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4761,
"cdna_start": 2644,
"cds_end": null,
"cds_length": 4761,
"cds_start": 2644,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000452319.6",
"gene_hgnc_id": 4318,
"gene_symbol": "GLI2",
"hgvs_c": "c.2644_2646delACGinsTCA",
"hgvs_p": "p.Thr882Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000390436.1",
"strand": true,
"transcript": "ENST00000452319.6",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1567,
"aa_ref": "T",
"aa_start": 863,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6981,
"cdna_start": 3040,
"cds_end": null,
"cds_length": 4704,
"cds_start": 2587,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000934404.1",
"gene_hgnc_id": 4318,
"gene_symbol": "GLI2",
"hgvs_c": "c.2587_2589delACGinsTCA",
"hgvs_p": "p.Thr863Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604463.1",
"strand": true,
"transcript": "ENST00000934404.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1548,
"aa_ref": "T",
"aa_start": 844,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6919,
"cdna_start": 2978,
"cds_end": null,
"cds_length": 4647,
"cds_start": 2530,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000934405.1",
"gene_hgnc_id": 4318,
"gene_symbol": "GLI2",
"hgvs_c": "c.2530_2532delACGinsTCA",
"hgvs_p": "p.Thr844Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604464.1",
"strand": true,
"transcript": "ENST00000934405.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1507,
"aa_ref": "T",
"aa_start": 803,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6818,
"cdna_start": 2877,
"cds_end": null,
"cds_length": 4524,
"cds_start": 2407,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000869361.1",
"gene_hgnc_id": 4318,
"gene_symbol": "GLI2",
"hgvs_c": "c.2407_2409delACGinsTCA",
"hgvs_p": "p.Thr803Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539420.1",
"strand": true,
"transcript": "ENST00000869361.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1444,
"aa_ref": "T",
"aa_start": 740,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7030,
"cdna_start": 2935,
"cds_end": null,
"cds_length": 4335,
"cds_start": 2218,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001374354.1",
"gene_hgnc_id": 4318,
"gene_symbol": "GLI2",
"hgvs_c": "c.2218_2220delACGinsTCA",
"hgvs_p": "p.Thr740Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361283.1",
"strand": true,
"transcript": "NM_001374354.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1404,
"aa_ref": "T",
"aa_start": 700,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6248,
"cdna_start": 2310,
"cds_end": null,
"cds_length": 4215,
"cds_start": 2098,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000934406.1",
"gene_hgnc_id": 4318,
"gene_symbol": "GLI2",
"hgvs_c": "c.2098_2100delACGinsTCA",
"hgvs_p": "p.Thr700Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604465.1",
"strand": true,
"transcript": "ENST00000934406.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1580,
"aa_ref": "T",
"aa_start": 876,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6730,
"cdna_start": 2635,
"cds_end": null,
"cds_length": 4743,
"cds_start": 2626,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011510969.3",
"gene_hgnc_id": 4318,
"gene_symbol": "GLI2",
"hgvs_c": "c.2626_2628delACGinsTCA",
"hgvs_p": "p.Thr876Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011509271.3",
"strand": true,
"transcript": "XM_011510969.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1569,
"aa_ref": "T",
"aa_start": 865,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6876,
"cdna_start": 2781,
"cds_end": null,
"cds_length": 4710,
"cds_start": 2593,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047443947.1",
"gene_hgnc_id": 4318,
"gene_symbol": "GLI2",
"hgvs_c": "c.2593_2595delACGinsTCA",
"hgvs_p": "p.Thr865Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047299903.1",
"strand": true,
"transcript": "XM_047443947.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1563,
"aa_ref": "T",
"aa_start": 859,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6679,
"cdna_start": 2584,
"cds_end": null,
"cds_length": 4692,
"cds_start": 2575,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017003818.2",
"gene_hgnc_id": 4318,
"gene_symbol": "GLI2",
"hgvs_c": "c.2575_2577delACGinsTCA",
"hgvs_p": "p.Thr859Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016859307.2",
"strand": true,
"transcript": "XM_017003818.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1521,
"aa_ref": "T",
"aa_start": 817,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6705,
"cdna_start": 2610,
"cds_end": null,
"cds_length": 4566,
"cds_start": 2449,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011510971.3",
"gene_hgnc_id": 4318,
"gene_symbol": "GLI2",
"hgvs_c": "c.2449_2451delACGinsTCA",
"hgvs_p": "p.Thr817Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011509273.1",
"strand": true,
"transcript": "XM_011510971.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4904,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000341310.10",
"gene_hgnc_id": 4318,
"gene_symbol": "GLI2",
"hgvs_c": "n.*1692_*1694delACGinsTCA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000344473.6",
"strand": true,
"transcript": "ENST00000341310.10",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3724,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000438299.5",
"gene_hgnc_id": 4318,
"gene_symbol": "GLI2",
"hgvs_c": "n.*1743_*1745delACGinsTCA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000400593.1",
"strand": true,
"transcript": "ENST00000438299.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4955,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000445186.5",
"gene_hgnc_id": 4318,
"gene_symbol": "GLI2",
"hgvs_c": "n.*1743_*1745delACGinsTCA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000397488.1",
"strand": true,
"transcript": "ENST00000445186.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3673,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000452692.5",
"gene_hgnc_id": 4318,
"gene_symbol": "GLI2",
"hgvs_c": "n.*1692_*1694delACGinsTCA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000403715.1",
"strand": true,
"transcript": "ENST00000452692.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4904,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000341310.10",
"gene_hgnc_id": 4318,
"gene_symbol": "GLI2",
"hgvs_c": "n.*1692_*1694delACGinsTCA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000344473.6",
"strand": true,
"transcript": "ENST00000341310.10",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3724,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000438299.5",
"gene_hgnc_id": 4318,
"gene_symbol": "GLI2",
"hgvs_c": "n.*1743_*1745delACGinsTCA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000400593.1",
"strand": true,
"transcript": "ENST00000438299.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4955,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
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