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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: 16-69366888-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=69366888&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 69366888,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000254942.8",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TERF2",
"gene_hgnc_id": 11729,
"hgvs_c": "c.1259A>G",
"hgvs_p": "p.Asn420Ser",
"transcript": "NM_005652.5",
"protein_id": "NP_005643.2",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 542,
"cds_start": 1259,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 1295,
"cdna_end": null,
"cdna_length": 2996,
"mane_select": "ENST00000254942.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TERF2",
"gene_hgnc_id": 11729,
"hgvs_c": "c.1259A>G",
"hgvs_p": "p.Asn420Ser",
"transcript": "ENST00000254942.8",
"protein_id": "ENSP00000254942.3",
"transcript_support_level": 1,
"aa_start": 420,
"aa_end": null,
"aa_length": 542,
"cds_start": 1259,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 1295,
"cdna_end": null,
"cdna_length": 2996,
"mane_select": "NM_005652.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TERF2",
"gene_hgnc_id": 11729,
"hgvs_c": "c.578A>G",
"hgvs_p": "p.Asn193Ser",
"transcript": "ENST00000569584.6",
"protein_id": "ENSP00000475507.1",
"transcript_support_level": 2,
"aa_start": 193,
"aa_end": null,
"aa_length": 243,
"cds_start": 578,
"cds_end": null,
"cds_length": 732,
"cdna_start": 580,
"cdna_end": null,
"cdna_length": 2501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TERF2",
"gene_hgnc_id": 11729,
"hgvs_c": "c.1268A>G",
"hgvs_p": "p.Asn423Ser",
"transcript": "XM_005256121.4",
"protein_id": "XP_005256178.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 545,
"cds_start": 1268,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 1304,
"cdna_end": null,
"cdna_length": 3005,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TERF2",
"gene_hgnc_id": 11729,
"hgvs_c": "c.1268A>G",
"hgvs_p": "p.Asn423Ser",
"transcript": "XM_005256122.4",
"protein_id": "XP_005256179.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 544,
"cds_start": 1268,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 1304,
"cdna_end": null,
"cdna_length": 3002,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TERF2",
"gene_hgnc_id": 11729,
"hgvs_c": "c.1259A>G",
"hgvs_p": "p.Asn420Ser",
"transcript": "XM_005256123.4",
"protein_id": "XP_005256180.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 541,
"cds_start": 1259,
"cds_end": null,
"cds_length": 1626,
"cdna_start": 1295,
"cdna_end": null,
"cdna_length": 2993,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TERF2",
"gene_hgnc_id": 11729,
"hgvs_c": "c.1268A>G",
"hgvs_p": "p.Asn423Ser",
"transcript": "XM_047434552.1",
"protein_id": "XP_047290508.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 483,
"cds_start": 1268,
"cds_end": null,
"cds_length": 1452,
"cdna_start": 1304,
"cdna_end": null,
"cdna_length": 1548,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TERF2",
"gene_hgnc_id": 11729,
"hgvs_c": "c.1025A>G",
"hgvs_p": "p.Asn342Ser",
"transcript": "XM_005256124.5",
"protein_id": "XP_005256181.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 464,
"cds_start": 1025,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 1061,
"cdna_end": null,
"cdna_length": 2762,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "TERF2",
"gene_hgnc_id": 11729,
"hgvs_c": "n.97A>G",
"hgvs_p": null,
"transcript": "ENST00000567130.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 316,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TERF2",
"gene_hgnc_id": 11729,
"hgvs_c": "c.*47A>G",
"hgvs_p": null,
"transcript": "ENST00000566750.5",
"protein_id": "ENSP00000456022.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 282,
"cds_start": -4,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 917,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TERF2",
"gene_hgnc_id": 11729,
"hgvs_c": "c.*161A>G",
"hgvs_p": null,
"transcript": "ENST00000566257.5",
"protein_id": "ENSP00000457094.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 205,
"cds_start": -4,
"cds_end": null,
"cds_length": 618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 669,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TERF2",
"gene_hgnc_id": 11729,
"hgvs_c": "c.*59A>G",
"hgvs_p": null,
"transcript": "ENST00000569542.6",
"protein_id": "ENSP00000462726.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 142,
"cds_start": -4,
"cds_end": null,
"cds_length": 429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 431,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TERF2",
"gene_hgnc_id": 11729,
"hgvs_c": "n.*466A>G",
"hgvs_p": null,
"transcript": "ENST00000564982.6",
"protein_id": "ENSP00000462523.1",
"transcript_support_level": 3,
"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": 573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TERF2",
"gene_hgnc_id": 11729,
"dbsnp": "rs754713348",
"frequency_reference_population": 0.000003098143,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000273623,
"gnomad_genomes_af": 0.00000657869,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.08944723010063171,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.027,
"revel_prediction": "Benign",
"alphamissense_score": 0.0627,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.72,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.562,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000254942.8",
"gene_symbol": "TERF2",
"hgnc_id": 11729,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1259A>G",
"hgvs_p": "p.Asn420Ser"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}