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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: 2-25121764-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=25121764&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 25121764,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_014971.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFR3B",
"gene_hgnc_id": 29155,
"hgvs_c": "c.455C>T",
"hgvs_p": "p.Ser152Leu",
"transcript": "NM_014971.2",
"protein_id": "NP_055786.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 817,
"cds_start": 455,
"cds_end": null,
"cds_length": 2454,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000403714.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014971.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFR3B",
"gene_hgnc_id": 29155,
"hgvs_c": "c.455C>T",
"hgvs_p": "p.Ser152Leu",
"transcript": "ENST00000403714.8",
"protein_id": "ENSP00000384081.3",
"transcript_support_level": 5,
"aa_start": 152,
"aa_end": null,
"aa_length": 817,
"cds_start": 455,
"cds_end": null,
"cds_length": 2454,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014971.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000403714.8"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFR3B",
"gene_hgnc_id": 29155,
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Ser4Leu",
"transcript": "ENST00000405108.5",
"protein_id": "ENSP00000384454.1",
"transcript_support_level": 1,
"aa_start": 4,
"aa_end": null,
"aa_length": 669,
"cds_start": 11,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405108.5"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFR3B",
"gene_hgnc_id": 29155,
"hgvs_c": "c.455C>T",
"hgvs_p": "p.Ser152Leu",
"transcript": "ENST00000858650.1",
"protein_id": "ENSP00000528709.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 808,
"cds_start": 455,
"cds_end": null,
"cds_length": 2427,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858650.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFR3B",
"gene_hgnc_id": 29155,
"hgvs_c": "c.455C>T",
"hgvs_p": "p.Ser152Leu",
"transcript": "ENST00000858649.1",
"protein_id": "ENSP00000528708.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 807,
"cds_start": 455,
"cds_end": null,
"cds_length": 2424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858649.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFR3B",
"gene_hgnc_id": 29155,
"hgvs_c": "c.350C>T",
"hgvs_p": "p.Ser117Leu",
"transcript": "NM_001319099.2",
"protein_id": "NP_001306028.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 782,
"cds_start": 350,
"cds_end": null,
"cds_length": 2349,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319099.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFR3B",
"gene_hgnc_id": 29155,
"hgvs_c": "c.350C>T",
"hgvs_p": "p.Ser117Leu",
"transcript": "ENST00000402191.5",
"protein_id": "ENSP00000385832.1",
"transcript_support_level": 5,
"aa_start": 117,
"aa_end": null,
"aa_length": 782,
"cds_start": 350,
"cds_end": null,
"cds_length": 2349,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000402191.5"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFR3B",
"gene_hgnc_id": 29155,
"hgvs_c": "c.455C>T",
"hgvs_p": "p.Ser152Leu",
"transcript": "ENST00000401432.7",
"protein_id": "ENSP00000386082.3",
"transcript_support_level": 2,
"aa_start": 152,
"aa_end": null,
"aa_length": 728,
"cds_start": 455,
"cds_end": null,
"cds_length": 2187,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000401432.7"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFR3B",
"gene_hgnc_id": 29155,
"hgvs_c": "c.92C>T",
"hgvs_p": "p.Ser31Leu",
"transcript": "ENST00000264719.5",
"protein_id": "ENSP00000264719.5",
"transcript_support_level": 5,
"aa_start": 31,
"aa_end": null,
"aa_length": 652,
"cds_start": 92,
"cds_end": null,
"cds_length": 1959,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264719.5"
}
],
"gene_symbol": "EFR3B",
"gene_hgnc_id": 29155,
"dbsnp": "rs765652835",
"frequency_reference_population": 0.000006572634,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000657263,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.44416913390159607,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.186,
"revel_prediction": "Benign",
"alphamissense_score": 0.5235,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.13,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.815,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_014971.2",
"gene_symbol": "EFR3B",
"hgnc_id": 29155,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.455C>T",
"hgvs_p": "p.Ser152Leu"
}
],
"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
}