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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: 17-28616956-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=28616956&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 28616956,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000528896.7",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP2",
"gene_hgnc_id": 28960,
"hgvs_c": "c.5954T>A",
"hgvs_p": "p.Leu1985Gln",
"transcript": "NM_014680.5",
"protein_id": "NP_055495.2",
"transcript_support_level": null,
"aa_start": 1985,
"aa_end": null,
"aa_length": 2235,
"cds_start": 5954,
"cds_end": null,
"cds_length": 6708,
"cdna_start": 6056,
"cdna_end": null,
"cdna_length": 7428,
"mane_select": "ENST00000528896.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP2",
"gene_hgnc_id": 28960,
"hgvs_c": "c.5954T>A",
"hgvs_p": "p.Leu1985Gln",
"transcript": "ENST00000528896.7",
"protein_id": "ENSP00000436773.2",
"transcript_support_level": 1,
"aa_start": 1985,
"aa_end": null,
"aa_length": 2235,
"cds_start": 5954,
"cds_end": null,
"cds_length": 6708,
"cdna_start": 6056,
"cdna_end": null,
"cdna_length": 7428,
"mane_select": "NM_014680.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG5-AS1",
"gene_hgnc_id": 41140,
"hgvs_c": "n.1722A>T",
"hgvs_p": null,
"transcript": "ENST00000414744.2",
"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": 2143,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP2",
"gene_hgnc_id": 28960,
"hgvs_c": "c.5951T>A",
"hgvs_p": "p.Leu1984Gln",
"transcript": "NM_001321560.2",
"protein_id": "NP_001308489.1",
"transcript_support_level": null,
"aa_start": 1984,
"aa_end": null,
"aa_length": 2234,
"cds_start": 5951,
"cds_end": null,
"cds_length": 6705,
"cdna_start": 6053,
"cdna_end": null,
"cdna_length": 7425,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP2",
"gene_hgnc_id": 28960,
"hgvs_c": "c.5525T>A",
"hgvs_p": "p.Leu1842Gln",
"transcript": "NM_001363826.1",
"protein_id": "NP_001350755.1",
"transcript_support_level": null,
"aa_start": 1842,
"aa_end": null,
"aa_length": 2092,
"cds_start": 5525,
"cds_end": null,
"cds_length": 6279,
"cdna_start": 5909,
"cdna_end": null,
"cdna_length": 7287,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP2",
"gene_hgnc_id": 28960,
"hgvs_c": "c.5525T>A",
"hgvs_p": "p.Leu1842Gln",
"transcript": "ENST00000389003.7",
"protein_id": "ENSP00000467716.1",
"transcript_support_level": 5,
"aa_start": 1842,
"aa_end": null,
"aa_length": 2092,
"cds_start": 5525,
"cds_end": null,
"cds_length": 6279,
"cdna_start": 5916,
"cdna_end": null,
"cdna_length": 6852,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP2",
"gene_hgnc_id": 28960,
"hgvs_c": "c.4949T>A",
"hgvs_p": "p.Leu1650Gln",
"transcript": "NM_001363827.1",
"protein_id": "NP_001350756.1",
"transcript_support_level": null,
"aa_start": 1650,
"aa_end": null,
"aa_length": 1900,
"cds_start": 4949,
"cds_end": null,
"cds_length": 5703,
"cdna_start": 5923,
"cdna_end": null,
"cdna_length": 7301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP2",
"gene_hgnc_id": 28960,
"hgvs_c": "c.3929T>A",
"hgvs_p": "p.Leu1310Gln",
"transcript": "NM_001363828.1",
"protein_id": "NP_001350757.1",
"transcript_support_level": null,
"aa_start": 1310,
"aa_end": null,
"aa_length": 1560,
"cds_start": 3929,
"cds_end": null,
"cds_length": 4683,
"cdna_start": 5851,
"cdna_end": null,
"cdna_length": 7229,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP2",
"gene_hgnc_id": 28960,
"hgvs_c": "c.3926T>A",
"hgvs_p": "p.Leu1309Gln",
"transcript": "NM_001363829.1",
"protein_id": "NP_001350758.1",
"transcript_support_level": null,
"aa_start": 1309,
"aa_end": null,
"aa_length": 1559,
"cds_start": 3926,
"cds_end": null,
"cds_length": 4680,
"cdna_start": 6284,
"cdna_end": null,
"cdna_length": 7662,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG5-AS1",
"gene_hgnc_id": 41140,
"hgvs_c": "n.1132A>T",
"hgvs_p": null,
"transcript": "ENST00000424210.1",
"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": 1551,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG5-AS1",
"gene_hgnc_id": 41140,
"hgvs_c": "n.1273A>T",
"hgvs_p": null,
"transcript": "ENST00000584675.1",
"protein_id": null,
"transcript_support_level": 6,
"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": 1689,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG5-AS1",
"gene_hgnc_id": 41140,
"hgvs_c": "n.1031A>T",
"hgvs_p": null,
"transcript": "ENST00000670419.1",
"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": 1422,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG5-AS1",
"gene_hgnc_id": 41140,
"hgvs_c": "n.944A>T",
"hgvs_p": null,
"transcript": "NR_040012.1",
"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": 1365,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "BLTP2",
"gene_hgnc_id": 28960,
"hgvs_c": "n.391-203T>A",
"hgvs_p": null,
"transcript": "ENST00000579924.6",
"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": 477,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP2",
"gene_hgnc_id": 28960,
"hgvs_c": "n.-22T>A",
"hgvs_p": null,
"transcript": "ENST00000583860.1",
"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": 432,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG5-AS1",
"gene_hgnc_id": 41140,
"hgvs_c": "n.*189A>T",
"hgvs_p": null,
"transcript": "ENST00000782659.1",
"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": 643,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "BLTP2",
"gene_hgnc_id": 28960,
"dbsnp": "rs1555539031",
"frequency_reference_population": 6.841012e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84101e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5993544459342957,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.253,
"revel_prediction": "Benign",
"alphamissense_score": 0.2011,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.14,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 8.727,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.03,
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000528896.7",
"gene_symbol": "BLTP2",
"hgnc_id": 28960,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.5954T>A",
"hgvs_p": "p.Leu1985Gln"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000414744.2",
"gene_symbol": "SPAG5-AS1",
"hgnc_id": 41140,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1722A>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}