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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: 15-73884215-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=73884215&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 73884215,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_153356.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D21",
"gene_hgnc_id": 28536,
"hgvs_c": "c.337C>T",
"hgvs_p": "p.Arg113Trp",
"transcript": "NM_153356.3",
"protein_id": "NP_699187.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 336,
"cds_start": 337,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000300504.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153356.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D21",
"gene_hgnc_id": 28536,
"hgvs_c": "c.337C>T",
"hgvs_p": "p.Arg113Trp",
"transcript": "ENST00000300504.7",
"protein_id": "ENSP00000300504.2",
"transcript_support_level": 1,
"aa_start": 113,
"aa_end": null,
"aa_length": 336,
"cds_start": 337,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_153356.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000300504.7"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D21",
"gene_hgnc_id": 28536,
"hgvs_c": "c.229C>T",
"hgvs_p": "p.Arg77Trp",
"transcript": "ENST00000535547.6",
"protein_id": "ENSP00000439325.2",
"transcript_support_level": 1,
"aa_start": 77,
"aa_end": null,
"aa_length": 300,
"cds_start": 229,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000535547.6"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D21",
"gene_hgnc_id": 28536,
"hgvs_c": "c.229C>T",
"hgvs_p": "p.Arg77Trp",
"transcript": "NM_001286434.2",
"protein_id": "NP_001273363.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 300,
"cds_start": 229,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286434.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D21",
"gene_hgnc_id": 28536,
"hgvs_c": "c.337C>T",
"hgvs_p": "p.Arg113Trp",
"transcript": "ENST00000562056.1",
"protein_id": "ENSP00000457096.1",
"transcript_support_level": 5,
"aa_start": 113,
"aa_end": null,
"aa_length": 299,
"cds_start": 337,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000562056.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D21",
"gene_hgnc_id": 28536,
"hgvs_c": "c.337C>T",
"hgvs_p": "p.Arg113Trp",
"transcript": "XM_006720409.5",
"protein_id": "XP_006720472.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 399,
"cds_start": 337,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006720409.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D21",
"gene_hgnc_id": 28536,
"hgvs_c": "c.229C>T",
"hgvs_p": "p.Arg77Trp",
"transcript": "XM_006720410.5",
"protein_id": "XP_006720473.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 363,
"cds_start": 229,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006720410.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D21",
"gene_hgnc_id": 28536,
"hgvs_c": "c.337C>T",
"hgvs_p": "p.Arg113Trp",
"transcript": "XM_011521281.4",
"protein_id": "XP_011519583.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 361,
"cds_start": 337,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521281.4"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D21",
"gene_hgnc_id": 28536,
"hgvs_c": "c.337C>T",
"hgvs_p": "p.Arg113Trp",
"transcript": "XM_011521282.3",
"protein_id": "XP_011519584.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 337,
"cds_start": 337,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521282.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D21",
"gene_hgnc_id": 28536,
"hgvs_c": "c.337C>T",
"hgvs_p": "p.Arg113Trp",
"transcript": "XM_011521283.3",
"protein_id": "XP_011519585.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 335,
"cds_start": 337,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521283.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D21",
"gene_hgnc_id": 28536,
"hgvs_c": "c.229C>T",
"hgvs_p": "p.Arg77Trp",
"transcript": "XM_047432198.1",
"protein_id": "XP_047288154.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 325,
"cds_start": 229,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432198.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D21",
"gene_hgnc_id": 28536,
"hgvs_c": "c.73C>T",
"hgvs_p": "p.Arg25Trp",
"transcript": "XM_011521284.4",
"protein_id": "XP_011519586.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 311,
"cds_start": 73,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521284.4"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D21",
"gene_hgnc_id": 28536,
"hgvs_c": "c.40C>T",
"hgvs_p": "p.Arg14Trp",
"transcript": "XM_006720411.4",
"protein_id": "XP_006720474.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 300,
"cds_start": 40,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006720411.4"
}
],
"gene_symbol": "TBC1D21",
"gene_hgnc_id": 28536,
"dbsnp": "rs745668732",
"frequency_reference_population": 0.000017346934,
"hom_count_reference_population": 0,
"allele_count_reference_population": 28,
"gnomad_exomes_af": 0.0000150491,
"gnomad_genomes_af": 0.000039413,
"gnomad_exomes_ac": 22,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.24717184901237488,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.066,
"revel_prediction": "Benign",
"alphamissense_score": 0.097,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.62,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.451,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_153356.3",
"gene_symbol": "TBC1D21",
"hgnc_id": 28536,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.337C>T",
"hgvs_p": "p.Arg113Trp"
}
],
"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
}