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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: 14-52432498-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=52432498&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 52432498,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_020784.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNDC16",
"gene_hgnc_id": 19965,
"hgvs_c": "c.2284A>G",
"hgvs_p": "p.Arg762Gly",
"transcript": "NM_020784.3",
"protein_id": "NP_065835.2",
"transcript_support_level": null,
"aa_start": 762,
"aa_end": null,
"aa_length": 825,
"cds_start": 2284,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 2655,
"cdna_end": null,
"cdna_length": 4557,
"mane_select": "ENST00000281741.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020784.3"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNDC16",
"gene_hgnc_id": 19965,
"hgvs_c": "c.2284A>G",
"hgvs_p": "p.Arg762Gly",
"transcript": "ENST00000281741.9",
"protein_id": "ENSP00000281741.4",
"transcript_support_level": 1,
"aa_start": 762,
"aa_end": null,
"aa_length": 825,
"cds_start": 2284,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 2655,
"cdna_end": null,
"cdna_length": 4557,
"mane_select": "NM_020784.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000281741.9"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNDC16",
"gene_hgnc_id": 19965,
"hgvs_c": "c.2284A>G",
"hgvs_p": "p.Arg762Gly",
"transcript": "ENST00000936707.1",
"protein_id": "ENSP00000606766.1",
"transcript_support_level": null,
"aa_start": 762,
"aa_end": null,
"aa_length": 825,
"cds_start": 2284,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 2686,
"cdna_end": null,
"cdna_length": 4594,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936707.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNDC16",
"gene_hgnc_id": 19965,
"hgvs_c": "c.2284A>G",
"hgvs_p": "p.Arg762Gly",
"transcript": "ENST00000956219.1",
"protein_id": "ENSP00000626278.1",
"transcript_support_level": null,
"aa_start": 762,
"aa_end": null,
"aa_length": 825,
"cds_start": 2284,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 2739,
"cdna_end": null,
"cdna_length": 4637,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956219.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNDC16",
"gene_hgnc_id": 19965,
"hgvs_c": "c.2278A>G",
"hgvs_p": "p.Arg760Gly",
"transcript": "ENST00000936709.1",
"protein_id": "ENSP00000606768.1",
"transcript_support_level": null,
"aa_start": 760,
"aa_end": null,
"aa_length": 823,
"cds_start": 2278,
"cds_end": null,
"cds_length": 2472,
"cdna_start": 2657,
"cdna_end": null,
"cdna_length": 4559,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936709.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNDC16",
"gene_hgnc_id": 19965,
"hgvs_c": "c.2269A>G",
"hgvs_p": "p.Arg757Gly",
"transcript": "NM_001160047.2",
"protein_id": "NP_001153519.1",
"transcript_support_level": null,
"aa_start": 757,
"aa_end": null,
"aa_length": 820,
"cds_start": 2269,
"cds_end": null,
"cds_length": 2463,
"cdna_start": 2640,
"cdna_end": null,
"cdna_length": 4542,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001160047.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNDC16",
"gene_hgnc_id": 19965,
"hgvs_c": "c.2269A>G",
"hgvs_p": "p.Arg757Gly",
"transcript": "ENST00000886893.1",
"protein_id": "ENSP00000556952.1",
"transcript_support_level": null,
"aa_start": 757,
"aa_end": null,
"aa_length": 820,
"cds_start": 2269,
"cds_end": null,
"cds_length": 2463,
"cdna_start": 2682,
"cdna_end": null,
"cdna_length": 4584,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886893.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNDC16",
"gene_hgnc_id": 19965,
"hgvs_c": "c.2269A>G",
"hgvs_p": "p.Arg757Gly",
"transcript": "ENST00000936708.1",
"protein_id": "ENSP00000606767.1",
"transcript_support_level": null,
"aa_start": 757,
"aa_end": null,
"aa_length": 820,
"cds_start": 2269,
"cds_end": null,
"cds_length": 2463,
"cdna_start": 2649,
"cdna_end": null,
"cdna_length": 4543,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936708.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNDC16",
"gene_hgnc_id": 19965,
"hgvs_c": "c.2269A>G",
"hgvs_p": "p.Arg757Gly",
"transcript": "ENST00000936711.1",
"protein_id": "ENSP00000606770.1",
"transcript_support_level": null,
"aa_start": 757,
"aa_end": null,
"aa_length": 820,
"cds_start": 2269,
"cds_end": null,
"cds_length": 2463,
"cdna_start": 2456,
"cdna_end": null,
"cdna_length": 4361,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936711.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNDC16",
"gene_hgnc_id": 19965,
"hgvs_c": "c.2071A>G",
"hgvs_p": "p.Arg691Gly",
"transcript": "ENST00000936710.1",
"protein_id": "ENSP00000606769.1",
"transcript_support_level": null,
"aa_start": 691,
"aa_end": null,
"aa_length": 754,
"cds_start": 2071,
"cds_end": null,
"cds_length": 2265,
"cdna_start": 2440,
"cdna_end": null,
"cdna_length": 4348,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936710.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNDC16",
"gene_hgnc_id": 19965,
"hgvs_c": "n.*802A>G",
"hgvs_p": null,
"transcript": "ENST00000555312.2",
"protein_id": "ENSP00000451619.2",
"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": 4667,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000555312.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNDC16",
"gene_hgnc_id": 19965,
"hgvs_c": "n.*1271A>G",
"hgvs_p": null,
"transcript": "ENST00000850587.1",
"protein_id": "ENSP00000520874.1",
"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": 6108,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000850587.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNDC16",
"gene_hgnc_id": 19965,
"hgvs_c": "n.*1112A>G",
"hgvs_p": null,
"transcript": "ENST00000850588.1",
"protein_id": "ENSP00000520875.1",
"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": 4724,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000850588.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNDC16",
"gene_hgnc_id": 19965,
"hgvs_c": "n.*802A>G",
"hgvs_p": null,
"transcript": "ENST00000555312.2",
"protein_id": "ENSP00000451619.2",
"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": 4667,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000555312.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNDC16",
"gene_hgnc_id": 19965,
"hgvs_c": "n.*1271A>G",
"hgvs_p": null,
"transcript": "ENST00000850587.1",
"protein_id": "ENSP00000520874.1",
"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": 6108,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000850587.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNDC16",
"gene_hgnc_id": 19965,
"hgvs_c": "n.*1112A>G",
"hgvs_p": null,
"transcript": "ENST00000850588.1",
"protein_id": "ENSP00000520875.1",
"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": 4724,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000850588.1"
}
],
"gene_symbol": "TXNDC16",
"gene_hgnc_id": 19965,
"dbsnp": "rs769074622",
"frequency_reference_population": 0.00008116722,
"hom_count_reference_population": 0,
"allele_count_reference_population": 131,
"gnomad_exomes_af": 0.000086199,
"gnomad_genomes_af": 0.0000328476,
"gnomad_exomes_ac": 126,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.052206605672836304,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.046,
"revel_prediction": "Benign",
"alphamissense_score": 0.0641,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.74,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.484,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_020784.3",
"gene_symbol": "TXNDC16",
"hgnc_id": 19965,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2284A>G",
"hgvs_p": "p.Arg762Gly"
}
],
"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
}