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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: 17-76007237-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=76007237&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 76007237,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001320747.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVPL",
"gene_hgnc_id": 3503,
"hgvs_c": "c.5968C>T",
"hgvs_p": "p.Arg1990Trp",
"transcript": "NM_001988.4",
"protein_id": "NP_001979.2",
"transcript_support_level": null,
"aa_start": 1990,
"aa_end": null,
"aa_length": 2033,
"cds_start": 5968,
"cds_end": null,
"cds_length": 6102,
"cdna_start": 6076,
"cdna_end": null,
"cdna_length": 6468,
"mane_select": "ENST00000301607.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001988.4"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVPL",
"gene_hgnc_id": 3503,
"hgvs_c": "c.5968C>T",
"hgvs_p": "p.Arg1990Trp",
"transcript": "ENST00000301607.8",
"protein_id": "ENSP00000301607.3",
"transcript_support_level": 1,
"aa_start": 1990,
"aa_end": null,
"aa_length": 2033,
"cds_start": 5968,
"cds_end": null,
"cds_length": 6102,
"cdna_start": 6076,
"cdna_end": null,
"cdna_length": 6468,
"mane_select": "NM_001988.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000301607.8"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVPL",
"gene_hgnc_id": 3503,
"hgvs_c": "c.6034C>T",
"hgvs_p": "p.Arg2012Trp",
"transcript": "ENST00000586740.1",
"protein_id": "ENSP00000465630.1",
"transcript_support_level": 1,
"aa_start": 2012,
"aa_end": null,
"aa_length": 2055,
"cds_start": 6034,
"cds_end": null,
"cds_length": 6168,
"cdna_start": 6067,
"cdna_end": null,
"cdna_length": 6223,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000586740.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVPL",
"gene_hgnc_id": 3503,
"hgvs_c": "c.6034C>T",
"hgvs_p": "p.Arg2012Trp",
"transcript": "NM_001320747.2",
"protein_id": "NP_001307676.1",
"transcript_support_level": null,
"aa_start": 2012,
"aa_end": null,
"aa_length": 2055,
"cds_start": 6034,
"cds_end": null,
"cds_length": 6168,
"cdna_start": 6142,
"cdna_end": null,
"cdna_length": 6534,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320747.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVPL",
"gene_hgnc_id": 3503,
"hgvs_c": "c.5908C>T",
"hgvs_p": "p.Arg1970Trp",
"transcript": "ENST00000870829.1",
"protein_id": "ENSP00000540888.1",
"transcript_support_level": null,
"aa_start": 1970,
"aa_end": null,
"aa_length": 2013,
"cds_start": 5908,
"cds_end": null,
"cds_length": 6042,
"cdna_start": 6148,
"cdna_end": null,
"cdna_length": 6539,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870829.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVPL",
"gene_hgnc_id": 3503,
"hgvs_c": "c.5875C>T",
"hgvs_p": "p.Arg1959Trp",
"transcript": "ENST00000870830.1",
"protein_id": "ENSP00000540889.1",
"transcript_support_level": null,
"aa_start": 1959,
"aa_end": null,
"aa_length": 2002,
"cds_start": 5875,
"cds_end": null,
"cds_length": 6009,
"cdna_start": 5983,
"cdna_end": null,
"cdna_length": 6370,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870830.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVPL",
"gene_hgnc_id": 3503,
"hgvs_c": "c.205C>T",
"hgvs_p": "p.Arg69Trp",
"transcript": "ENST00000589231.1",
"protein_id": "ENSP00000467717.1",
"transcript_support_level": 3,
"aa_start": 69,
"aa_end": null,
"aa_length": 112,
"cds_start": 205,
"cds_end": null,
"cds_length": 339,
"cdna_start": 205,
"cdna_end": null,
"cdna_length": 585,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589231.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVPL",
"gene_hgnc_id": 3503,
"hgvs_c": "n.6437C>T",
"hgvs_p": null,
"transcript": "ENST00000587569.5",
"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": 6592,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000587569.5"
}
],
"gene_symbol": "EVPL",
"gene_hgnc_id": 3503,
"dbsnp": "rs140726801",
"frequency_reference_population": 0.00019683334,
"hom_count_reference_population": 0,
"allele_count_reference_population": 309,
"gnomad_exomes_af": 0.000196119,
"gnomad_genomes_af": 0.000203476,
"gnomad_exomes_ac": 278,
"gnomad_genomes_ac": 31,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06835800409317017,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.302,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0791,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.18,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.675,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001320747.2",
"gene_symbol": "EVPL",
"hgnc_id": 3503,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.6034C>T",
"hgvs_p": "p.Arg2012Trp"
}
],
"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
}