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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: 15-88856926-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=88856926&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 88856926,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000560601.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAN",
"gene_hgnc_id": 319,
"hgvs_c": "c.4341G>T",
"hgvs_p": "p.Glu1447Asp",
"transcript": "NM_001369268.1",
"protein_id": "NP_001356197.1",
"transcript_support_level": null,
"aa_start": 1447,
"aa_end": null,
"aa_length": 2568,
"cds_start": 4341,
"cds_end": null,
"cds_length": 7707,
"cdna_start": 4722,
"cdna_end": null,
"cdna_length": 8960,
"mane_select": "ENST00000560601.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAN",
"gene_hgnc_id": 319,
"hgvs_c": "c.4341G>T",
"hgvs_p": "p.Glu1447Asp",
"transcript": "ENST00000560601.4",
"protein_id": "ENSP00000453581.2",
"transcript_support_level": 3,
"aa_start": 1447,
"aa_end": null,
"aa_length": 2568,
"cds_start": 4341,
"cds_end": null,
"cds_length": 7707,
"cdna_start": 4722,
"cdna_end": null,
"cdna_length": 8960,
"mane_select": "NM_001369268.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAN",
"gene_hgnc_id": 319,
"hgvs_c": "c.4341G>T",
"hgvs_p": "p.Glu1447Asp",
"transcript": "NM_001411097.1",
"protein_id": "NP_001398026.1",
"transcript_support_level": null,
"aa_start": 1447,
"aa_end": null,
"aa_length": 2530,
"cds_start": 4341,
"cds_end": null,
"cds_length": 7593,
"cdna_start": 4722,
"cdna_end": null,
"cdna_length": 8846,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAN",
"gene_hgnc_id": 319,
"hgvs_c": "c.4341G>T",
"hgvs_p": "p.Glu1447Asp",
"transcript": "NM_013227.4",
"protein_id": "NP_037359.3",
"transcript_support_level": null,
"aa_start": 1447,
"aa_end": null,
"aa_length": 2530,
"cds_start": 4341,
"cds_end": null,
"cds_length": 7593,
"cdna_start": 4722,
"cdna_end": null,
"cdna_length": 8846,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAN",
"gene_hgnc_id": 319,
"hgvs_c": "c.4341G>T",
"hgvs_p": "p.Glu1447Asp",
"transcript": "ENST00000439576.7",
"protein_id": "ENSP00000387356.2",
"transcript_support_level": 5,
"aa_start": 1447,
"aa_end": null,
"aa_length": 2530,
"cds_start": 4341,
"cds_end": null,
"cds_length": 7593,
"cdna_start": 4718,
"cdna_end": null,
"cdna_length": 8842,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAN",
"gene_hgnc_id": 319,
"hgvs_c": "c.4341G>T",
"hgvs_p": "p.Glu1447Asp",
"transcript": "ENST00000561243.7",
"protein_id": "ENSP00000453342.3",
"transcript_support_level": 5,
"aa_start": 1447,
"aa_end": null,
"aa_length": 2530,
"cds_start": 4341,
"cds_end": null,
"cds_length": 7593,
"cdna_start": 4718,
"cdna_end": null,
"cdna_length": 8075,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAN",
"gene_hgnc_id": 319,
"hgvs_c": "c.4341G>T",
"hgvs_p": "p.Glu1447Asp",
"transcript": "NM_001411096.1",
"protein_id": "NP_001398025.1",
"transcript_support_level": null,
"aa_start": 1447,
"aa_end": null,
"aa_length": 2492,
"cds_start": 4341,
"cds_end": null,
"cds_length": 7479,
"cdna_start": 4722,
"cdna_end": null,
"cdna_length": 8732,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAN",
"gene_hgnc_id": 319,
"hgvs_c": "c.4341G>T",
"hgvs_p": "p.Glu1447Asp",
"transcript": "ENST00000559004.5",
"protein_id": "ENSP00000453499.1",
"transcript_support_level": 5,
"aa_start": 1447,
"aa_end": null,
"aa_length": 2492,
"cds_start": 4341,
"cds_end": null,
"cds_length": 7479,
"cdna_start": 4399,
"cdna_end": null,
"cdna_length": 7628,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAN",
"gene_hgnc_id": 319,
"hgvs_c": "c.4341G>T",
"hgvs_p": "p.Glu1447Asp",
"transcript": "NM_001135.4",
"protein_id": "NP_001126.3",
"transcript_support_level": null,
"aa_start": 1447,
"aa_end": null,
"aa_length": 2431,
"cds_start": 4341,
"cds_end": null,
"cds_length": 7296,
"cdna_start": 4722,
"cdna_end": null,
"cdna_length": 8549,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAN",
"gene_hgnc_id": 319,
"hgvs_c": "c.4341G>T",
"hgvs_p": "p.Glu1447Asp",
"transcript": "ENST00000352105.11",
"protein_id": "ENSP00000341615.7",
"transcript_support_level": 5,
"aa_start": 1447,
"aa_end": null,
"aa_length": 2431,
"cds_start": 4341,
"cds_end": null,
"cds_length": 7296,
"cdna_start": 4399,
"cdna_end": null,
"cdna_length": 7526,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAN",
"gene_hgnc_id": 319,
"hgvs_c": "c.4341G>T",
"hgvs_p": "p.Glu1447Asp",
"transcript": "XM_047432214.1",
"protein_id": "XP_047288170.1",
"transcript_support_level": null,
"aa_start": 1447,
"aa_end": null,
"aa_length": 2553,
"cds_start": 4341,
"cds_end": null,
"cds_length": 7662,
"cdna_start": 4722,
"cdna_end": null,
"cdna_length": 8059,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAN",
"gene_hgnc_id": 319,
"hgvs_c": "c.4341G>T",
"hgvs_p": "p.Glu1447Asp",
"transcript": "XM_047432215.1",
"protein_id": "XP_047288171.1",
"transcript_support_level": null,
"aa_start": 1447,
"aa_end": null,
"aa_length": 2553,
"cds_start": 4341,
"cds_end": null,
"cds_length": 7662,
"cdna_start": 4722,
"cdna_end": null,
"cdna_length": 8058,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAN",
"gene_hgnc_id": 319,
"hgvs_c": "c.4341G>T",
"hgvs_p": "p.Glu1447Asp",
"transcript": "XM_047432216.1",
"protein_id": "XP_047288172.1",
"transcript_support_level": null,
"aa_start": 1447,
"aa_end": null,
"aa_length": 2515,
"cds_start": 4341,
"cds_end": null,
"cds_length": 7548,
"cdna_start": 4920,
"cdna_end": null,
"cdna_length": 8142,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAN",
"gene_hgnc_id": 319,
"hgvs_c": "c.4341G>T",
"hgvs_p": "p.Glu1447Asp",
"transcript": "XM_047432217.1",
"protein_id": "XP_047288173.1",
"transcript_support_level": null,
"aa_start": 1447,
"aa_end": null,
"aa_length": 2515,
"cds_start": 4341,
"cds_end": null,
"cds_length": 7548,
"cdna_start": 4722,
"cdna_end": null,
"cdna_length": 7944,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ACAN",
"gene_hgnc_id": 319,
"dbsnp": "rs201505307",
"frequency_reference_population": 0.000025504154,
"hom_count_reference_population": 0,
"allele_count_reference_population": 40,
"gnomad_exomes_af": 0.0000264392,
"gnomad_genomes_af": 0.0000152541,
"gnomad_exomes_ac": 38,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.040175795555114746,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.257,
"revel_prediction": "Benign",
"alphamissense_score": 0.0769,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.46,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -4.067,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000560601.4",
"gene_symbol": "ACAN",
"hgnc_id": 319,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.4341G>T",
"hgvs_p": "p.Glu1447Asp"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}