← 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: 2-120989465-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=120989465&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "GLI2",
"hgnc_id": 4318,
"hgvs_c": "c.3551C>A",
"hgvs_p": "p.Pro1184Gln",
"inheritance_mode": "AD,AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_005270.5",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP6_Moderate",
"acmg_score": -2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.078,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.58,
"chr": "2",
"clinvar_classification": "Likely benign",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.1451878547668457,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1569,
"aa_ref": "P",
"aa_start": 1167,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7136,
"cdna_start": 3948,
"cds_end": null,
"cds_length": 4710,
"cds_start": 3500,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001374353.1",
"gene_hgnc_id": 4318,
"gene_symbol": "GLI2",
"hgvs_c": "c.3500C>A",
"hgvs_p": "p.Pro1167Gln",
"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": "Q",
"aa_end": null,
"aa_length": 1569,
"aa_ref": "P",
"aa_start": 1167,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7136,
"cdna_start": 3948,
"cds_end": null,
"cds_length": 4710,
"cds_start": 3500,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000361492.9",
"gene_hgnc_id": 4318,
"gene_symbol": "GLI2",
"hgvs_c": "c.3500C>A",
"hgvs_p": "p.Pro1167Gln",
"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": "Q",
"aa_end": null,
"aa_length": 1586,
"aa_ref": "P",
"aa_start": 1184,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7187,
"cdna_start": 3999,
"cds_end": null,
"cds_length": 4761,
"cds_start": 3551,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001371271.1",
"gene_hgnc_id": 4318,
"gene_symbol": "GLI2",
"hgvs_c": "c.3551C>A",
"hgvs_p": "p.Pro1184Gln",
"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": "Q",
"aa_end": null,
"aa_length": 1586,
"aa_ref": "P",
"aa_start": 1184,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6927,
"cdna_start": 3739,
"cds_end": null,
"cds_length": 4761,
"cds_start": 3551,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_005270.5",
"gene_hgnc_id": 4318,
"gene_symbol": "GLI2",
"hgvs_c": "c.3551C>A",
"hgvs_p": "p.Pro1184Gln",
"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": "Q",
"aa_end": null,
"aa_length": 1586,
"aa_ref": "P",
"aa_start": 1184,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4761,
"cdna_start": 3551,
"cds_end": null,
"cds_length": 4761,
"cds_start": 3551,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000452319.6",
"gene_hgnc_id": 4318,
"gene_symbol": "GLI2",
"hgvs_c": "c.3551C>A",
"hgvs_p": "p.Pro1184Gln",
"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": "Q",
"aa_end": null,
"aa_length": 1567,
"aa_ref": "P",
"aa_start": 1165,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6981,
"cdna_start": 3947,
"cds_end": null,
"cds_length": 4704,
"cds_start": 3494,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000934404.1",
"gene_hgnc_id": 4318,
"gene_symbol": "GLI2",
"hgvs_c": "c.3494C>A",
"hgvs_p": "p.Pro1165Gln",
"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": "Q",
"aa_end": null,
"aa_length": 1548,
"aa_ref": "P",
"aa_start": 1146,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6919,
"cdna_start": 3885,
"cds_end": null,
"cds_length": 4647,
"cds_start": 3437,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000934405.1",
"gene_hgnc_id": 4318,
"gene_symbol": "GLI2",
"hgvs_c": "c.3437C>A",
"hgvs_p": "p.Pro1146Gln",
"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": "Q",
"aa_end": null,
"aa_length": 1507,
"aa_ref": "P",
"aa_start": 1105,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6818,
"cdna_start": 3784,
"cds_end": null,
"cds_length": 4524,
"cds_start": 3314,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000869361.1",
"gene_hgnc_id": 4318,
"gene_symbol": "GLI2",
"hgvs_c": "c.3314C>A",
"hgvs_p": "p.Pro1105Gln",
"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": "Q",
"aa_end": null,
"aa_length": 1444,
"aa_ref": "P",
"aa_start": 1042,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7030,
"cdna_start": 3842,
"cds_end": null,
"cds_length": 4335,
"cds_start": 3125,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001374354.1",
"gene_hgnc_id": 4318,
"gene_symbol": "GLI2",
"hgvs_c": "c.3125C>A",
"hgvs_p": "p.Pro1042Gln",
"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": "Q",
"aa_end": null,
"aa_length": 1404,
"aa_ref": "P",
"aa_start": 1002,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6248,
"cdna_start": 3217,
"cds_end": null,
"cds_length": 4215,
"cds_start": 3005,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000934406.1",
"gene_hgnc_id": 4318,
"gene_symbol": "GLI2",
"hgvs_c": "c.3005C>A",
"hgvs_p": "p.Pro1002Gln",
"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": "Q",
"aa_end": null,
"aa_length": 1580,
"aa_ref": "P",
"aa_start": 1178,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6730,
"cdna_start": 3542,
"cds_end": null,
"cds_length": 4743,
"cds_start": 3533,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_011510969.3",
"gene_hgnc_id": 4318,
"gene_symbol": "GLI2",
"hgvs_c": "c.3533C>A",
"hgvs_p": "p.Pro1178Gln",
"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": "Q",
"aa_end": null,
"aa_length": 1569,
"aa_ref": "P",
"aa_start": 1167,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6876,
"cdna_start": 3688,
"cds_end": null,
"cds_length": 4710,
"cds_start": 3500,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_047443947.1",
"gene_hgnc_id": 4318,
"gene_symbol": "GLI2",
"hgvs_c": "c.3500C>A",
"hgvs_p": "p.Pro1167Gln",
"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": "Q",
"aa_end": null,
"aa_length": 1563,
"aa_ref": "P",
"aa_start": 1161,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6679,
"cdna_start": 3491,
"cds_end": null,
"cds_length": 4692,
"cds_start": 3482,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_017003818.2",
"gene_hgnc_id": 4318,
"gene_symbol": "GLI2",
"hgvs_c": "c.3482C>A",
"hgvs_p": "p.Pro1161Gln",
"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": "Q",
"aa_end": null,
"aa_length": 1521,
"aa_ref": "P",
"aa_start": 1119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6705,
"cdna_start": 3517,
"cds_end": null,
"cds_length": 4566,
"cds_start": 3356,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_011510971.3",
"gene_hgnc_id": 4318,
"gene_symbol": "GLI2",
"hgvs_c": "c.3356C>A",
"hgvs_p": "p.Pro1119Gln",
"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.*2599C>A",
"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": 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.*2650C>A",
"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": 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.*2599C>A",
"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": 4955,
"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": "ENST00000445186.5",
"gene_hgnc_id": 4318,
"gene_symbol": "GLI2",
"hgvs_c": "n.*2650C>A",
"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": 3724,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000438299.5",
"gene_hgnc_id": 4318,
"gene_symbol": "GLI2",
"hgvs_c": "n.*2543+107C>A",
"hgvs_p": null,
"intron_rank": 10,
"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": 3673,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000452692.5",
"gene_hgnc_id": 4318,
"gene_symbol": "GLI2",
"hgvs_c": "n.*2492+107C>A",
"hgvs_p": null,
"intron_rank": 10,
"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
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs754763067",
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 4318,
"gene_symbol": "GLI2",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Likely benign",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": 2.548,
"pos": 120989465,
"ref": "C",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.615,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_005270.5"
}
]
}