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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: 22-19877130-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=19877130&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 19877130,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000400521.7",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNRD2",
"gene_hgnc_id": 18155,
"hgvs_c": "c.1550C>A",
"hgvs_p": "p.Pro517His",
"transcript": "NM_006440.5",
"protein_id": "NP_006431.2",
"transcript_support_level": null,
"aa_start": 517,
"aa_end": null,
"aa_length": 524,
"cds_start": 1550,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 1565,
"cdna_end": null,
"cdna_length": 1941,
"mane_select": "ENST00000400521.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNRD2",
"gene_hgnc_id": 18155,
"hgvs_c": "c.1550C>A",
"hgvs_p": "p.Pro517His",
"transcript": "ENST00000400521.7",
"protein_id": "ENSP00000383365.1",
"transcript_support_level": 1,
"aa_start": 517,
"aa_end": null,
"aa_length": 524,
"cds_start": 1550,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 1565,
"cdna_end": null,
"cdna_length": 1941,
"mane_select": "NM_006440.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNRD2",
"gene_hgnc_id": 18155,
"hgvs_c": "c.1547C>A",
"hgvs_p": "p.Pro516His",
"transcript": "ENST00000400519.6",
"protein_id": "ENSP00000383363.1",
"transcript_support_level": 1,
"aa_start": 516,
"aa_end": null,
"aa_length": 523,
"cds_start": 1547,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 1547,
"cdna_end": null,
"cdna_length": 3155,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNRD2",
"gene_hgnc_id": 18155,
"hgvs_c": "c.1460C>A",
"hgvs_p": "p.Pro487His",
"transcript": "ENST00000400518.5",
"protein_id": "ENSP00000383362.1",
"transcript_support_level": 1,
"aa_start": 487,
"aa_end": null,
"aa_length": 494,
"cds_start": 1460,
"cds_end": null,
"cds_length": 1485,
"cdna_start": 1644,
"cdna_end": null,
"cdna_length": 2025,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNRD2",
"gene_hgnc_id": 18155,
"hgvs_c": "c.1262C>A",
"hgvs_p": "p.Pro421His",
"transcript": "ENST00000542719.6",
"protein_id": "ENSP00000485128.2",
"transcript_support_level": 1,
"aa_start": 421,
"aa_end": null,
"aa_length": 428,
"cds_start": 1262,
"cds_end": null,
"cds_length": 1287,
"cdna_start": 1644,
"cdna_end": null,
"cdna_length": 2024,
"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": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNRD2",
"gene_hgnc_id": 18155,
"hgvs_c": "n.1644C>A",
"hgvs_p": null,
"transcript": "ENST00000487165.5",
"protein_id": null,
"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": 2020,
"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": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNRD2",
"gene_hgnc_id": 18155,
"hgvs_c": "n.1624C>A",
"hgvs_p": null,
"transcript": "ENST00000494454.5",
"protein_id": null,
"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": 2004,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNRD2",
"gene_hgnc_id": 18155,
"hgvs_c": "c.1547C>A",
"hgvs_p": "p.Pro516His",
"transcript": "NM_001352300.2",
"protein_id": "NP_001339229.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 523,
"cds_start": 1547,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 1562,
"cdna_end": null,
"cdna_length": 3170,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNRD2",
"gene_hgnc_id": 18155,
"hgvs_c": "c.1481C>A",
"hgvs_p": "p.Pro494His",
"transcript": "ENST00000400525.6",
"protein_id": "ENSP00000383369.3",
"transcript_support_level": 5,
"aa_start": 494,
"aa_end": null,
"aa_length": 501,
"cds_start": 1481,
"cds_end": null,
"cds_length": 1506,
"cdna_start": 1498,
"cdna_end": null,
"cdna_length": 1874,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNRD2",
"gene_hgnc_id": 18155,
"hgvs_c": "c.1460C>A",
"hgvs_p": "p.Pro487His",
"transcript": "NM_001352301.2",
"protein_id": "NP_001339230.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 494,
"cds_start": 1460,
"cds_end": null,
"cds_length": 1485,
"cdna_start": 1644,
"cdna_end": null,
"cdna_length": 2020,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNRD2",
"gene_hgnc_id": 18155,
"hgvs_c": "c.1262C>A",
"hgvs_p": "p.Pro421His",
"transcript": "NM_001352302.2",
"protein_id": "NP_001339231.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 428,
"cds_start": 1262,
"cds_end": null,
"cds_length": 1287,
"cdna_start": 1644,
"cdna_end": null,
"cdna_length": 2020,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNRD2",
"gene_hgnc_id": 18155,
"hgvs_c": "c.518C>A",
"hgvs_p": "p.Pro173His",
"transcript": "ENST00000485358.5",
"protein_id": "ENSP00000485499.2",
"transcript_support_level": 2,
"aa_start": 173,
"aa_end": null,
"aa_length": 180,
"cds_start": 518,
"cds_end": null,
"cds_length": 543,
"cdna_start": 593,
"cdna_end": null,
"cdna_length": 850,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNRD2",
"gene_hgnc_id": 18155,
"hgvs_c": "c.473C>A",
"hgvs_p": "p.Pro158His",
"transcript": "ENST00000462330.5",
"protein_id": "ENSP00000485603.2",
"transcript_support_level": 3,
"aa_start": 158,
"aa_end": null,
"aa_length": 165,
"cds_start": 473,
"cds_end": null,
"cds_length": 498,
"cdna_start": 753,
"cdna_end": null,
"cdna_length": 1129,
"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": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNRD2",
"gene_hgnc_id": 18155,
"hgvs_c": "n.500C>A",
"hgvs_p": null,
"transcript": "ENST00000462843.2",
"protein_id": "ENSP00000485466.2",
"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": 810,
"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": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNRD2",
"gene_hgnc_id": 18155,
"hgvs_c": "n.*79C>A",
"hgvs_p": null,
"transcript": "ENST00000474308.5",
"protein_id": "ENSP00000485665.1",
"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": 1854,
"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": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNRD2",
"gene_hgnc_id": 18155,
"hgvs_c": "n.1094C>A",
"hgvs_p": null,
"transcript": "ENST00000495655.2",
"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": 2700,
"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": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNRD2",
"gene_hgnc_id": 18155,
"hgvs_c": "n.611C>A",
"hgvs_p": null,
"transcript": "ENST00000634471.1",
"protein_id": null,
"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": 748,
"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": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNRD2",
"gene_hgnc_id": 18155,
"hgvs_c": "n.779C>A",
"hgvs_p": null,
"transcript": "ENST00000634537.1",
"protein_id": "ENSP00000489208.1",
"transcript_support_level": 5,
"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": 1086,
"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": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNRD2",
"gene_hgnc_id": 18155,
"hgvs_c": "n.1486C>A",
"hgvs_p": null,
"transcript": "NR_147957.2",
"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": 1862,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNRD2",
"gene_hgnc_id": 18155,
"hgvs_c": "n.*79C>A",
"hgvs_p": null,
"transcript": "ENST00000474308.5",
"protein_id": "ENSP00000485665.1",
"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": 1854,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TXNRD2",
"gene_hgnc_id": 18155,
"dbsnp": "rs750909434",
"frequency_reference_population": 0.00001314717,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0000131472,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.41167208552360535,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.314,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.19,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.072,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000400521.7",
"gene_symbol": "TXNRD2",
"hgnc_id": 18155,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR,Unknown",
"hgvs_c": "c.1550C>A",
"hgvs_p": "p.Pro517His"
}
],
"clinvar_disease": "Cardiovascular phenotype",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Cardiovascular phenotype",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}