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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: 20-63488339-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=63488339&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 63488339,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001958.5",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF1A2",
"gene_hgnc_id": 3192,
"hgvs_c": "c.1351G>A",
"hgvs_p": "p.Val451Ile",
"transcript": "NM_001958.5",
"protein_id": "NP_001949.1",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 463,
"cds_start": 1351,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 1448,
"cdna_end": null,
"cdna_length": 1773,
"mane_select": "ENST00000217182.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF1A2",
"gene_hgnc_id": 3192,
"hgvs_c": "c.1351G>A",
"hgvs_p": "p.Val451Ile",
"transcript": "ENST00000217182.6",
"protein_id": "ENSP00000217182.3",
"transcript_support_level": 1,
"aa_start": 451,
"aa_end": null,
"aa_length": 463,
"cds_start": 1351,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 1448,
"cdna_end": null,
"cdna_length": 1773,
"mane_select": "NM_001958.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "EEF1A2",
"gene_hgnc_id": 3192,
"hgvs_c": "c.1350+1G>A",
"hgvs_p": null,
"transcript": "ENST00000298049.13",
"protein_id": "ENSP00000298049.9",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 549,
"cds_start": -4,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12112,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF1A2",
"gene_hgnc_id": 3192,
"hgvs_c": "c.1351G>A",
"hgvs_p": "p.Val451Ile",
"transcript": "ENST00000706949.1",
"protein_id": "ENSP00000516669.1",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 512,
"cds_start": 1351,
"cds_end": null,
"cds_length": 1539,
"cdna_start": 1448,
"cdna_end": null,
"cdna_length": 1644,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF1A2",
"gene_hgnc_id": 3192,
"hgvs_c": "c.1309G>A",
"hgvs_p": "p.Val437Ile",
"transcript": "ENST00000706948.1",
"protein_id": "ENSP00000516668.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 449,
"cds_start": 1309,
"cds_end": null,
"cds_length": 1350,
"cdna_start": 1406,
"cdna_end": null,
"cdna_length": 1731,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF1A2",
"gene_hgnc_id": 3192,
"hgvs_c": "n.*1223G>A",
"hgvs_p": null,
"transcript": "ENST00000675519.1",
"protein_id": "ENSP00000501859.1",
"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": 1982,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF1A2",
"gene_hgnc_id": 3192,
"hgvs_c": "n.1316G>A",
"hgvs_p": null,
"transcript": "ENST00000850883.1",
"protein_id": "ENSP00000520961.1",
"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": 1736,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF1A2",
"gene_hgnc_id": 3192,
"hgvs_c": "n.*1223G>A",
"hgvs_p": null,
"transcript": "ENST00000675519.1",
"protein_id": "ENSP00000501859.1",
"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": 1982,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "EEF1A2",
"gene_hgnc_id": 3192,
"dbsnp": "rs1201131200",
"frequency_reference_population": 0.000004567364,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000456736,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.13765305280685425,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.105,
"revel_prediction": "Benign",
"alphamissense_score": 0.0879,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.848,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001958.5",
"gene_symbol": "EEF1A2",
"hgnc_id": 3192,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1351G>A",
"hgvs_p": "p.Val451Ile"
}
],
"clinvar_disease": " 33,Developmental and epileptic encephalopathy",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Developmental and epileptic encephalopathy, 33",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}