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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: 14-20377362-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=20377362&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 20377362,
"ref": "A",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_007110.5",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEP1",
"gene_hgnc_id": 11726,
"hgvs_c": "c.6006T>G",
"hgvs_p": "p.Leu2002Leu",
"transcript": "NM_007110.5",
"protein_id": "NP_009041.2",
"transcript_support_level": null,
"aa_start": 2002,
"aa_end": null,
"aa_length": 2627,
"cds_start": 6006,
"cds_end": null,
"cds_length": 7884,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000262715.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007110.5"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEP1",
"gene_hgnc_id": 11726,
"hgvs_c": "c.6006T>G",
"hgvs_p": "p.Leu2002Leu",
"transcript": "ENST00000262715.10",
"protein_id": "ENSP00000262715.5",
"transcript_support_level": 1,
"aa_start": 2002,
"aa_end": null,
"aa_length": 2627,
"cds_start": 6006,
"cds_end": null,
"cds_length": 7884,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_007110.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262715.10"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEP1",
"gene_hgnc_id": 11726,
"hgvs_c": "c.5682T>G",
"hgvs_p": "p.Leu1894Leu",
"transcript": "ENST00000556935.5",
"protein_id": "ENSP00000452574.1",
"transcript_support_level": 1,
"aa_start": 1894,
"aa_end": null,
"aa_length": 2519,
"cds_start": 5682,
"cds_end": null,
"cds_length": 7560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000556935.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEP1",
"gene_hgnc_id": 11726,
"hgvs_c": "n.4035T>G",
"hgvs_p": null,
"transcript": "ENST00000555008.5",
"protein_id": "ENSP00000450541.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000555008.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEP1",
"gene_hgnc_id": 11726,
"hgvs_c": "n.*1426T>G",
"hgvs_p": null,
"transcript": "ENST00000555727.5",
"protein_id": "ENSP00000451634.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000555727.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEP1",
"gene_hgnc_id": 11726,
"hgvs_c": "n.*1426T>G",
"hgvs_p": null,
"transcript": "ENST00000555727.5",
"protein_id": "ENSP00000451634.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000555727.5"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEP1",
"gene_hgnc_id": 11726,
"hgvs_c": "c.6006T>G",
"hgvs_p": "p.Leu2002Leu",
"transcript": "ENST00000921537.1",
"protein_id": "ENSP00000591596.1",
"transcript_support_level": null,
"aa_start": 2002,
"aa_end": null,
"aa_length": 2627,
"cds_start": 6006,
"cds_end": null,
"cds_length": 7884,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921537.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEP1",
"gene_hgnc_id": 11726,
"hgvs_c": "c.5682T>G",
"hgvs_p": "p.Leu1894Leu",
"transcript": "NM_001319035.2",
"protein_id": "NP_001305964.1",
"transcript_support_level": null,
"aa_start": 1894,
"aa_end": null,
"aa_length": 2519,
"cds_start": 5682,
"cds_end": null,
"cds_length": 7560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319035.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEP1",
"gene_hgnc_id": 11726,
"hgvs_c": "c.6006T>G",
"hgvs_p": "p.Leu2002Leu",
"transcript": "XM_005268027.6",
"protein_id": "XP_005268084.1",
"transcript_support_level": null,
"aa_start": 2002,
"aa_end": null,
"aa_length": 2627,
"cds_start": 6006,
"cds_end": null,
"cds_length": 7884,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005268027.6"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEP1",
"gene_hgnc_id": 11726,
"hgvs_c": "c.5394T>G",
"hgvs_p": "p.Leu1798Leu",
"transcript": "XM_047431733.1",
"protein_id": "XP_047287689.1",
"transcript_support_level": null,
"aa_start": 1798,
"aa_end": null,
"aa_length": 2423,
"cds_start": 5394,
"cds_end": null,
"cds_length": 7272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431733.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEP1",
"gene_hgnc_id": 11726,
"hgvs_c": "c.6006T>G",
"hgvs_p": "p.Leu2002Leu",
"transcript": "XM_047431734.1",
"protein_id": "XP_047287690.1",
"transcript_support_level": null,
"aa_start": 2002,
"aa_end": null,
"aa_length": 2338,
"cds_start": 6006,
"cds_end": null,
"cds_length": 7017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431734.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEP1",
"gene_hgnc_id": 11726,
"hgvs_c": "c.4437T>G",
"hgvs_p": "p.Leu1479Leu",
"transcript": "XM_011537110.3",
"protein_id": "XP_011535412.1",
"transcript_support_level": null,
"aa_start": 1479,
"aa_end": null,
"aa_length": 2104,
"cds_start": 4437,
"cds_end": null,
"cds_length": 6315,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011537110.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEP1",
"gene_hgnc_id": 11726,
"hgvs_c": "n.*71T>G",
"hgvs_p": null,
"transcript": "ENST00000556488.5",
"protein_id": "ENSP00000451409.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000556488.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEP1",
"gene_hgnc_id": 11726,
"hgvs_c": "n.*1426T>G",
"hgvs_p": null,
"transcript": "ENST00000557314.5",
"protein_id": "ENSP00000450830.1",
"transcript_support_level": 2,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000557314.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEP1",
"gene_hgnc_id": 11726,
"hgvs_c": "n.*71T>G",
"hgvs_p": null,
"transcript": "ENST00000556488.5",
"protein_id": "ENSP00000451409.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000556488.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEP1",
"gene_hgnc_id": 11726,
"hgvs_c": "n.*1426T>G",
"hgvs_p": null,
"transcript": "ENST00000557314.5",
"protein_id": "ENSP00000450830.1",
"transcript_support_level": 2,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000557314.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TEP1",
"gene_hgnc_id": 11726,
"hgvs_c": "n.*9-4T>G",
"hgvs_p": null,
"transcript": "ENST00000471684.2",
"protein_id": "ENSP00000451919.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000471684.2"
}
],
"gene_symbol": "TEP1",
"gene_hgnc_id": 11726,
"dbsnp": "rs2229101",
"frequency_reference_population": 0.06456142,
"hom_count_reference_population": 3636,
"allele_count_reference_population": 104206,
"gnomad_exomes_af": 0.06453,
"gnomad_genomes_af": 0.0648633,
"gnomad_exomes_ac": 94329,
"gnomad_genomes_ac": 9877,
"gnomad_exomes_homalt": 3261,
"gnomad_genomes_homalt": 375,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8700000047683716,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.87,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.271,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_007110.5",
"gene_symbol": "TEP1",
"hgnc_id": 11726,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.6006T>G",
"hgvs_p": "p.Leu2002Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}