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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: 17-28619682-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=28619682&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 28619682,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_014680.5",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP2",
"gene_hgnc_id": 28960,
"hgvs_c": "c.5614G>C",
"hgvs_p": "p.Glu1872Gln",
"transcript": "NM_014680.5",
"protein_id": "NP_055495.2",
"transcript_support_level": null,
"aa_start": 1872,
"aa_end": null,
"aa_length": 2235,
"cds_start": 5614,
"cds_end": null,
"cds_length": 6708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000528896.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014680.5"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP2",
"gene_hgnc_id": 28960,
"hgvs_c": "c.5614G>C",
"hgvs_p": "p.Glu1872Gln",
"transcript": "ENST00000528896.7",
"protein_id": "ENSP00000436773.2",
"transcript_support_level": 1,
"aa_start": 1872,
"aa_end": null,
"aa_length": 2235,
"cds_start": 5614,
"cds_end": null,
"cds_length": 6708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014680.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000528896.7"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP2",
"gene_hgnc_id": 28960,
"hgvs_c": "c.5611G>C",
"hgvs_p": "p.Glu1871Gln",
"transcript": "NM_001321560.2",
"protein_id": "NP_001308489.1",
"transcript_support_level": null,
"aa_start": 1871,
"aa_end": null,
"aa_length": 2234,
"cds_start": 5611,
"cds_end": null,
"cds_length": 6705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321560.2"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP2",
"gene_hgnc_id": 28960,
"hgvs_c": "c.5611G>C",
"hgvs_p": "p.Glu1871Gln",
"transcript": "ENST00000939120.1",
"protein_id": "ENSP00000609179.1",
"transcript_support_level": null,
"aa_start": 1871,
"aa_end": null,
"aa_length": 2234,
"cds_start": 5611,
"cds_end": null,
"cds_length": 6705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939120.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP2",
"gene_hgnc_id": 28960,
"hgvs_c": "c.5611G>C",
"hgvs_p": "p.Glu1871Gln",
"transcript": "ENST00000939122.1",
"protein_id": "ENSP00000609181.1",
"transcript_support_level": null,
"aa_start": 1871,
"aa_end": null,
"aa_length": 2234,
"cds_start": 5611,
"cds_end": null,
"cds_length": 6705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939122.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP2",
"gene_hgnc_id": 28960,
"hgvs_c": "c.5560G>C",
"hgvs_p": "p.Glu1854Gln",
"transcript": "ENST00000939124.1",
"protein_id": "ENSP00000609183.1",
"transcript_support_level": null,
"aa_start": 1854,
"aa_end": null,
"aa_length": 2217,
"cds_start": 5560,
"cds_end": null,
"cds_length": 6654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939124.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP2",
"gene_hgnc_id": 28960,
"hgvs_c": "c.5614G>C",
"hgvs_p": "p.Glu1872Gln",
"transcript": "ENST00000902448.1",
"protein_id": "ENSP00000572507.1",
"transcript_support_level": null,
"aa_start": 1872,
"aa_end": null,
"aa_length": 2196,
"cds_start": 5614,
"cds_end": null,
"cds_length": 6591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902448.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP2",
"gene_hgnc_id": 28960,
"hgvs_c": "c.5461G>C",
"hgvs_p": "p.Glu1821Gln",
"transcript": "ENST00000939123.1",
"protein_id": "ENSP00000609182.1",
"transcript_support_level": null,
"aa_start": 1821,
"aa_end": null,
"aa_length": 2184,
"cds_start": 5461,
"cds_end": null,
"cds_length": 6555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939123.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP2",
"gene_hgnc_id": 28960,
"hgvs_c": "c.5422G>C",
"hgvs_p": "p.Glu1808Gln",
"transcript": "ENST00000939121.1",
"protein_id": "ENSP00000609180.1",
"transcript_support_level": null,
"aa_start": 1808,
"aa_end": null,
"aa_length": 2171,
"cds_start": 5422,
"cds_end": null,
"cds_length": 6516,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939121.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP2",
"gene_hgnc_id": 28960,
"hgvs_c": "c.5416G>C",
"hgvs_p": "p.Glu1806Gln",
"transcript": "ENST00000955982.1",
"protein_id": "ENSP00000626041.1",
"transcript_support_level": null,
"aa_start": 1806,
"aa_end": null,
"aa_length": 2169,
"cds_start": 5416,
"cds_end": null,
"cds_length": 6510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955982.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP2",
"gene_hgnc_id": 28960,
"hgvs_c": "c.5185G>C",
"hgvs_p": "p.Glu1729Gln",
"transcript": "NM_001363826.1",
"protein_id": "NP_001350755.1",
"transcript_support_level": null,
"aa_start": 1729,
"aa_end": null,
"aa_length": 2092,
"cds_start": 5185,
"cds_end": null,
"cds_length": 6279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363826.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP2",
"gene_hgnc_id": 28960,
"hgvs_c": "c.5185G>C",
"hgvs_p": "p.Glu1729Gln",
"transcript": "ENST00000389003.7",
"protein_id": "ENSP00000467716.1",
"transcript_support_level": 5,
"aa_start": 1729,
"aa_end": null,
"aa_length": 2092,
"cds_start": 5185,
"cds_end": null,
"cds_length": 6279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000389003.7"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP2",
"gene_hgnc_id": 28960,
"hgvs_c": "c.4609G>C",
"hgvs_p": "p.Glu1537Gln",
"transcript": "NM_001363827.1",
"protein_id": "NP_001350756.1",
"transcript_support_level": null,
"aa_start": 1537,
"aa_end": null,
"aa_length": 1900,
"cds_start": 4609,
"cds_end": null,
"cds_length": 5703,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363827.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP2",
"gene_hgnc_id": 28960,
"hgvs_c": "c.3589G>C",
"hgvs_p": "p.Glu1197Gln",
"transcript": "NM_001363828.1",
"protein_id": "NP_001350757.1",
"transcript_support_level": null,
"aa_start": 1197,
"aa_end": null,
"aa_length": 1560,
"cds_start": 3589,
"cds_end": null,
"cds_length": 4683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363828.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP2",
"gene_hgnc_id": 28960,
"hgvs_c": "c.3586G>C",
"hgvs_p": "p.Glu1196Gln",
"transcript": "NM_001363829.1",
"protein_id": "NP_001350758.1",
"transcript_support_level": null,
"aa_start": 1196,
"aa_end": null,
"aa_length": 1559,
"cds_start": 3586,
"cds_end": null,
"cds_length": 4680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363829.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP2",
"gene_hgnc_id": 28960,
"hgvs_c": "n.94G>C",
"hgvs_p": null,
"transcript": "ENST00000579924.6",
"protein_id": null,
"transcript_support_level": 3,
"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": "pseudogene",
"feature": "ENST00000579924.6"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP2",
"gene_hgnc_id": 28960,
"hgvs_c": "n.295G>C",
"hgvs_p": null,
"transcript": "ENST00000580395.1",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000580395.1"
}
],
"gene_symbol": "BLTP2",
"gene_hgnc_id": 28960,
"dbsnp": "rs1195620393",
"frequency_reference_population": 0.000013140777,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0000131408,
"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": 0.271624356508255,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07000000029802322,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.098,
"revel_prediction": "Benign",
"alphamissense_score": 0.0857,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.46,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.337,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.07,
"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": "NM_014680.5",
"gene_symbol": "BLTP2",
"hgnc_id": 28960,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.5614G>C",
"hgvs_p": "p.Glu1872Gln"
}
],
"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
}