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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: 3-87240749-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=87240749&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 87240749,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000263780.9",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP2B",
"gene_hgnc_id": 24537,
"hgvs_c": "c.85A>G",
"hgvs_p": "p.Ile29Val",
"transcript": "NM_014043.4",
"protein_id": "NP_054762.2",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 213,
"cds_start": 85,
"cds_end": null,
"cds_length": 642,
"cdna_start": 299,
"cdna_end": null,
"cdna_length": 2590,
"mane_select": "ENST00000263780.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP2B",
"gene_hgnc_id": 24537,
"hgvs_c": "c.85A>G",
"hgvs_p": "p.Ile29Val",
"transcript": "ENST00000263780.9",
"protein_id": "ENSP00000263780.4",
"transcript_support_level": 1,
"aa_start": 29,
"aa_end": null,
"aa_length": 213,
"cds_start": 85,
"cds_end": null,
"cds_length": 642,
"cdna_start": 299,
"cdna_end": null,
"cdna_length": 2590,
"mane_select": "NM_014043.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP2B",
"gene_hgnc_id": 24537,
"hgvs_c": "c.181A>G",
"hgvs_p": "p.Ile61Val",
"transcript": "NM_001410777.1",
"protein_id": "NP_001397706.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 245,
"cds_start": 181,
"cds_end": null,
"cds_length": 738,
"cdna_start": 426,
"cdna_end": null,
"cdna_length": 2717,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP2B",
"gene_hgnc_id": 24537,
"hgvs_c": "c.133A>G",
"hgvs_p": "p.Ile45Val",
"transcript": "ENST00000472024.3",
"protein_id": "ENSP00000480032.2",
"transcript_support_level": 5,
"aa_start": 45,
"aa_end": null,
"aa_length": 229,
"cds_start": 133,
"cds_end": null,
"cds_length": 690,
"cdna_start": 430,
"cdna_end": null,
"cdna_length": 2651,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP2B",
"gene_hgnc_id": 24537,
"hgvs_c": "c.133A>G",
"hgvs_p": "p.Ile45Val",
"transcript": "ENST00000676705.1",
"protein_id": "ENSP00000504098.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 229,
"cds_start": 133,
"cds_end": null,
"cds_length": 690,
"cdna_start": 423,
"cdna_end": null,
"cdna_length": 2644,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP2B",
"gene_hgnc_id": 24537,
"hgvs_c": "c.85A>G",
"hgvs_p": "p.Ile29Val",
"transcript": "ENST00000494980.5",
"protein_id": "ENSP00000418920.1",
"transcript_support_level": 3,
"aa_start": 29,
"aa_end": null,
"aa_length": 183,
"cds_start": 85,
"cds_end": null,
"cds_length": 552,
"cdna_start": 306,
"cdna_end": null,
"cdna_length": 1175,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP2B",
"gene_hgnc_id": 24537,
"hgvs_c": "c.133A>G",
"hgvs_p": "p.Ile45Val",
"transcript": "XM_011533576.3",
"protein_id": "XP_011531878.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 229,
"cds_start": 133,
"cds_end": null,
"cds_length": 690,
"cdna_start": 181,
"cdna_end": null,
"cdna_length": 2472,
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP2B",
"gene_hgnc_id": 24537,
"hgvs_c": "n.238A>G",
"hgvs_p": null,
"transcript": "ENST00000676947.1",
"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": 1297,
"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": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP2B",
"gene_hgnc_id": 24537,
"hgvs_c": "n.323A>G",
"hgvs_p": null,
"transcript": "ENST00000677929.1",
"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": 5899,
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP2B",
"gene_hgnc_id": 24537,
"hgvs_c": "n.408A>G",
"hgvs_p": null,
"transcript": "ENST00000678859.1",
"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": 5984,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CHMP2B",
"gene_hgnc_id": 24537,
"hgvs_c": "c.4-4965A>G",
"hgvs_p": null,
"transcript": "NM_001244644.2",
"protein_id": "NP_001231573.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 172,
"cds_start": -4,
"cds_end": null,
"cds_length": 519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2498,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CHMP2B",
"gene_hgnc_id": 24537,
"hgvs_c": "c.4-4965A>G",
"hgvs_p": null,
"transcript": "ENST00000471660.5",
"protein_id": "ENSP00000419998.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 172,
"cds_start": -4,
"cds_end": null,
"cds_length": 519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2528,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "CHMP2B",
"gene_hgnc_id": 24537,
"hgvs_c": "n.1062+296A>G",
"hgvs_p": null,
"transcript": "ENST00000678818.1",
"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": 1683,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CHMP2B",
"gene_hgnc_id": 24537,
"dbsnp": "rs63750818",
"frequency_reference_population": 0.00031915065,
"hom_count_reference_population": 0,
"allele_count_reference_population": 515,
"gnomad_exomes_af": 0.000332546,
"gnomad_genomes_af": 0.000190529,
"gnomad_exomes_ac": 486,
"gnomad_genomes_ac": 29,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.30391234159469604,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.355,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0675,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.19,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.168,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000263780.9",
"gene_symbol": "CHMP2B",
"hgnc_id": 24537,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.85A>G",
"hgvs_p": "p.Ile29Val"
}
],
"clinvar_disease": "Frontotemporal dementia and/or amyotrophic lateral sclerosis 7,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:6 O:2",
"phenotype_combined": "Frontotemporal dementia and/or amyotrophic lateral sclerosis 7|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}