← 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: 5-1268575-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=1268575&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 1268575,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_198253.3",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TERT",
"gene_hgnc_id": 11730,
"hgvs_c": "c.2527A>G",
"hgvs_p": "p.Ser843Gly",
"transcript": "NM_198253.3",
"protein_id": "NP_937983.2",
"transcript_support_level": null,
"aa_start": 843,
"aa_end": null,
"aa_length": 1132,
"cds_start": 2527,
"cds_end": null,
"cds_length": 3399,
"cdna_start": 2606,
"cdna_end": null,
"cdna_length": 4039,
"mane_select": "ENST00000310581.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198253.3"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TERT",
"gene_hgnc_id": 11730,
"hgvs_c": "c.2527A>G",
"hgvs_p": "p.Ser843Gly",
"transcript": "ENST00000310581.10",
"protein_id": "ENSP00000309572.5",
"transcript_support_level": 1,
"aa_start": 843,
"aa_end": null,
"aa_length": 1132,
"cds_start": 2527,
"cds_end": null,
"cds_length": 3399,
"cdna_start": 2606,
"cdna_end": null,
"cdna_length": 4039,
"mane_select": "NM_198253.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000310581.10"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TERT",
"gene_hgnc_id": 11730,
"hgvs_c": "c.2527A>G",
"hgvs_p": "p.Ser843Gly",
"transcript": "ENST00000334602.10",
"protein_id": "ENSP00000334346.6",
"transcript_support_level": 1,
"aa_start": 843,
"aa_end": null,
"aa_length": 1069,
"cds_start": 2527,
"cds_end": null,
"cds_length": 3210,
"cdna_start": 2527,
"cdna_end": null,
"cdna_length": 3210,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000334602.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TERT",
"gene_hgnc_id": 11730,
"hgvs_c": "n.2309A>G",
"hgvs_p": null,
"transcript": "ENST00000460137.6",
"protein_id": "ENSP00000425003.1",
"transcript_support_level": 1,
"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": 2992,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000460137.6"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TERT",
"gene_hgnc_id": 11730,
"hgvs_c": "c.2695A>G",
"hgvs_p": "p.Ser899Gly",
"transcript": "ENST00000922986.1",
"protein_id": "ENSP00000593045.1",
"transcript_support_level": null,
"aa_start": 899,
"aa_end": null,
"aa_length": 1188,
"cds_start": 2695,
"cds_end": null,
"cds_length": 3567,
"cdna_start": 2782,
"cdna_end": null,
"cdna_length": 4215,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922986.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TERT",
"gene_hgnc_id": 11730,
"hgvs_c": "c.2491A>G",
"hgvs_p": "p.Ser831Gly",
"transcript": "ENST00000922985.1",
"protein_id": "ENSP00000593044.1",
"transcript_support_level": null,
"aa_start": 831,
"aa_end": null,
"aa_length": 1120,
"cds_start": 2491,
"cds_end": null,
"cds_length": 3363,
"cdna_start": 2587,
"cdna_end": null,
"cdna_length": 4020,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922985.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TERT",
"gene_hgnc_id": 11730,
"hgvs_c": "c.2527A>G",
"hgvs_p": "p.Ser843Gly",
"transcript": "NM_001193376.3",
"protein_id": "NP_001180305.1",
"transcript_support_level": null,
"aa_start": 843,
"aa_end": null,
"aa_length": 1069,
"cds_start": 2527,
"cds_end": null,
"cds_length": 3210,
"cdna_start": 2606,
"cdna_end": null,
"cdna_length": 3850,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001193376.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TERT",
"gene_hgnc_id": 11730,
"hgvs_c": "n.1158A>G",
"hgvs_p": null,
"transcript": "ENST00000484238.6",
"protein_id": null,
"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": 2422,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000484238.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TERT",
"gene_hgnc_id": 11730,
"hgvs_c": "n.*2073A>G",
"hgvs_p": null,
"transcript": "ENST00000656021.1",
"protein_id": "ENSP00000499759.1",
"transcript_support_level": null,
"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": 5289,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000656021.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TERT",
"gene_hgnc_id": 11730,
"hgvs_c": "n.2424A>G",
"hgvs_p": null,
"transcript": "NR_149162.3",
"protein_id": null,
"transcript_support_level": null,
"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": 3668,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_149162.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TERT",
"gene_hgnc_id": 11730,
"hgvs_c": "n.2388A>G",
"hgvs_p": null,
"transcript": "NR_149163.3",
"protein_id": null,
"transcript_support_level": null,
"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": 3632,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_149163.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TERT",
"gene_hgnc_id": 11730,
"hgvs_c": "n.*2073A>G",
"hgvs_p": null,
"transcript": "ENST00000656021.1",
"protein_id": "ENSP00000499759.1",
"transcript_support_level": null,
"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": 5289,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000656021.1"
}
],
"gene_symbol": "TERT",
"gene_hgnc_id": 11730,
"dbsnp": "rs1554039732",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.707260012626648,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.723,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.21,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.1,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.752,
"phylop100way_prediction": "Uncertain_significance",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_198253.3",
"gene_symbol": "TERT",
"hgnc_id": 11730,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,Unknown,SD,AR",
"hgvs_c": "c.2527A>G",
"hgvs_p": "p.Ser843Gly"
}
],
"clinvar_disease": " autosomal dominant 2,Dyskeratosis congenita,Idiopathic Pulmonary Fibrosis",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Idiopathic Pulmonary Fibrosis;Dyskeratosis congenita, autosomal dominant 2|Dyskeratosis congenita",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}