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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: 3-186080097-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=186080097&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 186080097,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_004454.3",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV5",
"gene_hgnc_id": 3494,
"hgvs_c": "c.370G>C",
"hgvs_p": "p.Asp124His",
"transcript": "NM_004454.3",
"protein_id": "NP_004445.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 510,
"cds_start": 370,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000306376.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004454.3"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV5",
"gene_hgnc_id": 3494,
"hgvs_c": "c.370G>C",
"hgvs_p": "p.Asp124His",
"transcript": "ENST00000306376.10",
"protein_id": "ENSP00000306894.5",
"transcript_support_level": 1,
"aa_start": 124,
"aa_end": null,
"aa_length": 510,
"cds_start": 370,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004454.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000306376.10"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV5",
"gene_hgnc_id": 3494,
"hgvs_c": "c.370G>C",
"hgvs_p": "p.Asp124His",
"transcript": "ENST00000434744.5",
"protein_id": "ENSP00000413755.1",
"transcript_support_level": 1,
"aa_start": 124,
"aa_end": null,
"aa_length": 510,
"cds_start": 370,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000434744.5"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV5",
"gene_hgnc_id": 3494,
"hgvs_c": "c.370G>C",
"hgvs_p": "p.Asp124His",
"transcript": "ENST00000875747.1",
"protein_id": "ENSP00000545806.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 510,
"cds_start": 370,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875747.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV5",
"gene_hgnc_id": 3494,
"hgvs_c": "c.370G>C",
"hgvs_p": "p.Asp124His",
"transcript": "ENST00000875748.1",
"protein_id": "ENSP00000545807.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 510,
"cds_start": 370,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875748.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV5",
"gene_hgnc_id": 3494,
"hgvs_c": "c.370G>C",
"hgvs_p": "p.Asp124His",
"transcript": "ENST00000875749.1",
"protein_id": "ENSP00000545808.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 510,
"cds_start": 370,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875749.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV5",
"gene_hgnc_id": 3494,
"hgvs_c": "c.370G>C",
"hgvs_p": "p.Asp124His",
"transcript": "ENST00000927546.1",
"protein_id": "ENSP00000597605.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 510,
"cds_start": 370,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927546.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV5",
"gene_hgnc_id": 3494,
"hgvs_c": "c.370G>C",
"hgvs_p": "p.Asp124His",
"transcript": "ENST00000927547.1",
"protein_id": "ENSP00000597606.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 510,
"cds_start": 370,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927547.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV5",
"gene_hgnc_id": 3494,
"hgvs_c": "c.322G>C",
"hgvs_p": "p.Asp108His",
"transcript": "ENST00000927545.1",
"protein_id": "ENSP00000597604.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 494,
"cds_start": 322,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927545.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV5",
"gene_hgnc_id": 3494,
"hgvs_c": "c.370G>C",
"hgvs_p": "p.Asp124His",
"transcript": "ENST00000440773.5",
"protein_id": "ENSP00000389707.1",
"transcript_support_level": 4,
"aa_start": 124,
"aa_end": null,
"aa_length": 149,
"cds_start": 370,
"cds_end": null,
"cds_length": 450,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000440773.5"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV5",
"gene_hgnc_id": 3494,
"hgvs_c": "c.370G>C",
"hgvs_p": "p.Asp124His",
"transcript": "ENST00000421809.5",
"protein_id": "ENSP00000412171.1",
"transcript_support_level": 2,
"aa_start": 124,
"aa_end": null,
"aa_length": 139,
"cds_start": 370,
"cds_end": null,
"cds_length": 420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000421809.5"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV5",
"gene_hgnc_id": 3494,
"hgvs_c": "c.370G>C",
"hgvs_p": "p.Asp124His",
"transcript": "ENST00000413301.5",
"protein_id": "ENSP00000405157.1",
"transcript_support_level": 4,
"aa_start": 124,
"aa_end": null,
"aa_length": 131,
"cds_start": 370,
"cds_end": null,
"cds_length": 397,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000413301.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ETV5",
"gene_hgnc_id": 3494,
"hgvs_c": "c.233-15621G>C",
"hgvs_p": null,
"transcript": "ENST00000941996.1",
"protein_id": "ENSP00000612055.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 284,
"cds_start": null,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941996.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ETV5-AS1",
"gene_hgnc_id": 40222,
"hgvs_c": "n.173-463C>G",
"hgvs_p": null,
"transcript": "ENST00000453370.1",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000453370.1"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ETV5",
"gene_hgnc_id": 3494,
"hgvs_c": "n.171-14025G>C",
"hgvs_p": null,
"transcript": "ENST00000472868.6",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000472868.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ETV5-AS1",
"gene_hgnc_id": 40222,
"hgvs_c": "n.173-463C>G",
"hgvs_p": null,
"transcript": "NR_046594.1",
"protein_id": null,
"transcript_support_level": null,
"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": "NR_046594.1"
},
{
"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": "ETV5",
"gene_hgnc_id": 3494,
"hgvs_c": "n.-191G>C",
"hgvs_p": null,
"transcript": "ENST00000489830.5",
"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": "pseudogene",
"feature": "ENST00000489830.5"
}
],
"gene_symbol": "ETV5",
"gene_hgnc_id": 3494,
"dbsnp": "rs377678658",
"frequency_reference_population": 0.0000015041348,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000150413,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7554417252540588,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.287,
"revel_prediction": "Benign",
"alphamissense_score": 0.4173,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 6.355,
"phylop100way_prediction": "Uncertain_significance",
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_004454.3",
"gene_symbol": "ETV5",
"hgnc_id": 3494,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.370G>C",
"hgvs_p": "p.Asp124His"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000453370.1",
"gene_symbol": "ETV5-AS1",
"hgnc_id": 40222,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.173-463C>G",
"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
}