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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: 14-20381934-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=20381934&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 20381934,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000262715.10",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEP1",
"gene_hgnc_id": 11726,
"hgvs_c": "c.4403G>A",
"hgvs_p": "p.Cys1468Tyr",
"transcript": "NM_007110.5",
"protein_id": "NP_009041.2",
"transcript_support_level": null,
"aa_start": 1468,
"aa_end": null,
"aa_length": 2627,
"cds_start": 4403,
"cds_end": null,
"cds_length": 7884,
"cdna_start": 4524,
"cdna_end": null,
"cdna_length": 10775,
"mane_select": "ENST00000262715.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEP1",
"gene_hgnc_id": 11726,
"hgvs_c": "c.4403G>A",
"hgvs_p": "p.Cys1468Tyr",
"transcript": "ENST00000262715.10",
"protein_id": "ENSP00000262715.5",
"transcript_support_level": 1,
"aa_start": 1468,
"aa_end": null,
"aa_length": 2627,
"cds_start": 4403,
"cds_end": null,
"cds_length": 7884,
"cdna_start": 4524,
"cdna_end": null,
"cdna_length": 10775,
"mane_select": "NM_007110.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEP1",
"gene_hgnc_id": 11726,
"hgvs_c": "c.4079G>A",
"hgvs_p": "p.Cys1360Tyr",
"transcript": "ENST00000556935.5",
"protein_id": "ENSP00000452574.1",
"transcript_support_level": 1,
"aa_start": 1360,
"aa_end": null,
"aa_length": 2519,
"cds_start": 4079,
"cds_end": null,
"cds_length": 7560,
"cdna_start": 4119,
"cdna_end": null,
"cdna_length": 7643,
"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": 18,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEP1",
"gene_hgnc_id": 11726,
"hgvs_c": "n.2432G>A",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6697,
"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": 30,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEP1",
"gene_hgnc_id": 11726,
"hgvs_c": "n.4403G>A",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7832,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEP1",
"gene_hgnc_id": 11726,
"hgvs_c": "c.4079G>A",
"hgvs_p": "p.Cys1360Tyr",
"transcript": "NM_001319035.2",
"protein_id": "NP_001305964.1",
"transcript_support_level": null,
"aa_start": 1360,
"aa_end": null,
"aa_length": 2519,
"cds_start": 4079,
"cds_end": null,
"cds_length": 7560,
"cdna_start": 4200,
"cdna_end": null,
"cdna_length": 10451,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEP1",
"gene_hgnc_id": 11726,
"hgvs_c": "c.4403G>A",
"hgvs_p": "p.Cys1468Tyr",
"transcript": "XM_005268027.6",
"protein_id": "XP_005268084.1",
"transcript_support_level": null,
"aa_start": 1468,
"aa_end": null,
"aa_length": 2627,
"cds_start": 4403,
"cds_end": null,
"cds_length": 7884,
"cdna_start": 4558,
"cdna_end": null,
"cdna_length": 10809,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEP1",
"gene_hgnc_id": 11726,
"hgvs_c": "c.3791G>A",
"hgvs_p": "p.Cys1264Tyr",
"transcript": "XM_047431733.1",
"protein_id": "XP_047287689.1",
"transcript_support_level": null,
"aa_start": 1264,
"aa_end": null,
"aa_length": 2423,
"cds_start": 3791,
"cds_end": null,
"cds_length": 7272,
"cdna_start": 5119,
"cdna_end": null,
"cdna_length": 11370,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEP1",
"gene_hgnc_id": 11726,
"hgvs_c": "c.4403G>A",
"hgvs_p": "p.Cys1468Tyr",
"transcript": "XM_047431734.1",
"protein_id": "XP_047287690.1",
"transcript_support_level": null,
"aa_start": 1468,
"aa_end": null,
"aa_length": 2338,
"cds_start": 4403,
"cds_end": null,
"cds_length": 7017,
"cdna_start": 4558,
"cdna_end": null,
"cdna_length": 7249,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEP1",
"gene_hgnc_id": 11726,
"hgvs_c": "c.2834G>A",
"hgvs_p": "p.Cys945Tyr",
"transcript": "XM_011537110.3",
"protein_id": "XP_011535412.1",
"transcript_support_level": null,
"aa_start": 945,
"aa_end": null,
"aa_length": 2104,
"cds_start": 2834,
"cds_end": null,
"cds_length": 6315,
"cdna_start": 2937,
"cdna_end": null,
"cdna_length": 9188,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEP1",
"gene_hgnc_id": 11726,
"hgvs_c": "c.4403G>A",
"hgvs_p": "p.Cys1468Tyr",
"transcript": "XM_047431735.1",
"protein_id": "XP_047287691.1",
"transcript_support_level": null,
"aa_start": 1468,
"aa_end": null,
"aa_length": 1769,
"cds_start": 4403,
"cds_end": null,
"cds_length": 5310,
"cdna_start": 4558,
"cdna_end": null,
"cdna_length": 5557,
"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": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEP1",
"gene_hgnc_id": 11726,
"hgvs_c": "n.167G>A",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2698,
"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": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEP1",
"gene_hgnc_id": 11726,
"hgvs_c": "n.4558G>A",
"hgvs_p": null,
"transcript": "XR_007064043.1",
"protein_id": null,
"transcript_support_level": null,
"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": 4767,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TEP1",
"gene_hgnc_id": 11726,
"dbsnp": "rs1713456",
"frequency_reference_population": 0.19194128,
"hom_count_reference_population": 32302,
"allele_count_reference_population": 309741,
"gnomad_exomes_af": 0.186365,
"gnomad_genomes_af": 0.24555,
"gnomad_exomes_ac": 272410,
"gnomad_genomes_ac": 37331,
"gnomad_exomes_homalt": 26895,
"gnomad_genomes_homalt": 5407,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0032809972763061523,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.096,
"revel_prediction": "Benign",
"alphamissense_score": 0.0464,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.53,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.373,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000262715.10",
"gene_symbol": "TEP1",
"hgnc_id": 11726,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.4403G>A",
"hgvs_p": "p.Cys1468Tyr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}