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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: 16-1500444-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=1500444&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 1500444,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000262319.11",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TELO2",
"gene_hgnc_id": 29099,
"hgvs_c": "c.1100G>A",
"hgvs_p": "p.Cys367Tyr",
"transcript": "NM_016111.4",
"protein_id": "NP_057195.2",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 837,
"cds_start": 1100,
"cds_end": null,
"cds_length": 2514,
"cdna_start": 1382,
"cdna_end": null,
"cdna_length": 3314,
"mane_select": "ENST00000262319.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TELO2",
"gene_hgnc_id": 29099,
"hgvs_c": "c.1100G>A",
"hgvs_p": "p.Cys367Tyr",
"transcript": "ENST00000262319.11",
"protein_id": "ENSP00000262319.6",
"transcript_support_level": 1,
"aa_start": 367,
"aa_end": null,
"aa_length": 837,
"cds_start": 1100,
"cds_end": null,
"cds_length": 2514,
"cdna_start": 1382,
"cdna_end": null,
"cdna_length": 3314,
"mane_select": "NM_016111.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TELO2",
"gene_hgnc_id": 29099,
"hgvs_c": "c.1100G>A",
"hgvs_p": "p.Cys367Tyr",
"transcript": "NM_001351846.2",
"protein_id": "NP_001338775.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 837,
"cds_start": 1100,
"cds_end": null,
"cds_length": 2514,
"cdna_start": 1347,
"cdna_end": null,
"cdna_length": 3279,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TELO2",
"gene_hgnc_id": 29099,
"hgvs_c": "c.1100G>A",
"hgvs_p": "p.Cys367Tyr",
"transcript": "XM_011522773.4",
"protein_id": "XP_011521075.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 899,
"cds_start": 1100,
"cds_end": null,
"cds_length": 2700,
"cdna_start": 1382,
"cdna_end": null,
"cdna_length": 3500,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TELO2",
"gene_hgnc_id": 29099,
"hgvs_c": "c.1100G>A",
"hgvs_p": "p.Cys367Tyr",
"transcript": "XM_011522774.3",
"protein_id": "XP_011521076.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 899,
"cds_start": 1100,
"cds_end": null,
"cds_length": 2700,
"cdna_start": 1634,
"cdna_end": null,
"cdna_length": 3752,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TELO2",
"gene_hgnc_id": 29099,
"hgvs_c": "c.1100G>A",
"hgvs_p": "p.Cys367Tyr",
"transcript": "XM_011522775.4",
"protein_id": "XP_011521077.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 899,
"cds_start": 1100,
"cds_end": null,
"cds_length": 2700,
"cdna_start": 1347,
"cdna_end": null,
"cdna_length": 3465,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TELO2",
"gene_hgnc_id": 29099,
"hgvs_c": "c.1100G>A",
"hgvs_p": "p.Cys367Tyr",
"transcript": "XM_011522776.3",
"protein_id": "XP_011521078.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 899,
"cds_start": 1100,
"cds_end": null,
"cds_length": 2700,
"cdna_start": 1454,
"cdna_end": null,
"cdna_length": 3572,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TELO2",
"gene_hgnc_id": 29099,
"hgvs_c": "c.1100G>A",
"hgvs_p": "p.Cys367Tyr",
"transcript": "XM_047434987.1",
"protein_id": "XP_047290943.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 837,
"cds_start": 1100,
"cds_end": null,
"cds_length": 2514,
"cdna_start": 1829,
"cdna_end": null,
"cdna_length": 3761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TELO2",
"gene_hgnc_id": 29099,
"hgvs_c": "c.1100G>A",
"hgvs_p": "p.Cys367Tyr",
"transcript": "XM_047434988.1",
"protein_id": "XP_047290944.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 837,
"cds_start": 1100,
"cds_end": null,
"cds_length": 2514,
"cdna_start": 1794,
"cdna_end": null,
"cdna_length": 3726,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TELO2",
"gene_hgnc_id": 29099,
"hgvs_c": "c.1100G>A",
"hgvs_p": "p.Cys367Tyr",
"transcript": "XM_047434989.1",
"protein_id": "XP_047290945.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 718,
"cds_start": 1100,
"cds_end": null,
"cds_length": 2157,
"cdna_start": 1382,
"cdna_end": null,
"cdna_length": 2970,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TELO2",
"gene_hgnc_id": 29099,
"hgvs_c": "c.1100G>A",
"hgvs_p": "p.Cys367Tyr",
"transcript": "XM_047434990.1",
"protein_id": "XP_047290946.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 718,
"cds_start": 1100,
"cds_end": null,
"cds_length": 2157,
"cdna_start": 1634,
"cdna_end": null,
"cdna_length": 3222,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TELO2",
"gene_hgnc_id": 29099,
"hgvs_c": "c.1100G>A",
"hgvs_p": "p.Cys367Tyr",
"transcript": "XM_011522777.4",
"protein_id": "XP_011521079.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 711,
"cds_start": 1100,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 1382,
"cdna_end": null,
"cdna_length": 2513,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TELO2",
"gene_hgnc_id": 29099,
"hgvs_c": "c.1100G>A",
"hgvs_p": "p.Cys367Tyr",
"transcript": "XM_011522778.4",
"protein_id": "XP_011521080.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 711,
"cds_start": 1100,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 1382,
"cdna_end": null,
"cdna_length": 2497,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TELO2",
"gene_hgnc_id": 29099,
"hgvs_c": "c.1100G>A",
"hgvs_p": "p.Cys367Tyr",
"transcript": "XM_047434991.1",
"protein_id": "XP_047290947.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 711,
"cds_start": 1100,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 1382,
"cdna_end": null,
"cdna_length": 2509,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TELO2",
"gene_hgnc_id": 29099,
"hgvs_c": "c.1100G>A",
"hgvs_p": "p.Cys367Tyr",
"transcript": "XM_047434992.1",
"protein_id": "XP_047290948.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 479,
"cds_start": 1100,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 1382,
"cdna_end": null,
"cdna_length": 1826,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"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": "TELO2",
"gene_hgnc_id": 29099,
"hgvs_c": "c.1100G>A",
"hgvs_p": "p.Cys367Tyr",
"transcript": "XM_047434993.1",
"protein_id": "XP_047290949.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 458,
"cds_start": 1100,
"cds_end": null,
"cds_length": 1377,
"cdna_start": 1382,
"cdna_end": null,
"cdna_length": 1763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TELO2",
"gene_hgnc_id": 29099,
"hgvs_c": "n.1100G>A",
"hgvs_p": null,
"transcript": "ENST00000497339.6",
"protein_id": "ENSP00000456383.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1667,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TELO2",
"gene_hgnc_id": 29099,
"dbsnp": "rs202020308",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9054164886474609,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.413,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8504,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.14,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.943,
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PM5,PP3_Moderate",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PM5",
"PP3_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000262319.11",
"gene_symbol": "TELO2",
"hgnc_id": 29099,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1100G>A",
"hgvs_p": "p.Cys367Tyr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}