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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: 8-13499831-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=13499831&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 13499831,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000276297.9",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLC1",
"gene_hgnc_id": 2897,
"hgvs_c": "c.241C>G",
"hgvs_p": "p.Leu81Val",
"transcript": "NM_182643.3",
"protein_id": "NP_872584.2",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 1528,
"cds_start": 241,
"cds_end": null,
"cds_length": 4587,
"cdna_start": 616,
"cdna_end": null,
"cdna_length": 7412,
"mane_select": "ENST00000276297.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLC1",
"gene_hgnc_id": 2897,
"hgvs_c": "c.241C>G",
"hgvs_p": "p.Leu81Val",
"transcript": "ENST00000276297.9",
"protein_id": "ENSP00000276297.4",
"transcript_support_level": 1,
"aa_start": 81,
"aa_end": null,
"aa_length": 1528,
"cds_start": 241,
"cds_end": null,
"cds_length": 4587,
"cdna_start": 616,
"cdna_end": null,
"cdna_length": 7412,
"mane_select": "NM_182643.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLC1",
"gene_hgnc_id": 2897,
"hgvs_c": "c.241C>G",
"hgvs_p": "p.Leu81Val",
"transcript": "ENST00000511869.1",
"protein_id": "ENSP00000425878.1",
"transcript_support_level": 1,
"aa_start": 81,
"aa_end": null,
"aa_length": 463,
"cds_start": 241,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 652,
"cdna_end": null,
"cdna_length": 2451,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLC1",
"gene_hgnc_id": 2897,
"hgvs_c": "c.-1211C>G",
"hgvs_p": null,
"transcript": "NM_001348082.2",
"protein_id": "NP_001335011.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1017,
"cds_start": -4,
"cds_end": null,
"cds_length": 3054,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7164,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLC1",
"gene_hgnc_id": 2897,
"hgvs_c": "c.241C>G",
"hgvs_p": "p.Leu81Val",
"transcript": "NM_001348081.2",
"protein_id": "NP_001335010.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 1528,
"cds_start": 241,
"cds_end": null,
"cds_length": 4587,
"cdna_start": 450,
"cdna_end": null,
"cdna_length": 7246,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLC1",
"gene_hgnc_id": 2897,
"hgvs_c": "c.241C>G",
"hgvs_p": "p.Leu81Val",
"transcript": "NM_001413124.1",
"protein_id": "NP_001400053.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 1528,
"cds_start": 241,
"cds_end": null,
"cds_length": 4587,
"cdna_start": 559,
"cdna_end": null,
"cdna_length": 7355,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLC1",
"gene_hgnc_id": 2897,
"hgvs_c": "c.241C>G",
"hgvs_p": "p.Leu81Val",
"transcript": "NM_001413125.1",
"protein_id": "NP_001400054.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 499,
"cds_start": 241,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 559,
"cdna_end": null,
"cdna_length": 5891,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLC1",
"gene_hgnc_id": 2897,
"hgvs_c": "c.241C>G",
"hgvs_p": "p.Leu81Val",
"transcript": "ENST00000316609.9",
"protein_id": "ENSP00000321034.5",
"transcript_support_level": 2,
"aa_start": 81,
"aa_end": null,
"aa_length": 498,
"cds_start": 241,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 530,
"cdna_end": null,
"cdna_length": 1837,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLC1",
"gene_hgnc_id": 2897,
"hgvs_c": "c.241C>G",
"hgvs_p": "p.Leu81Val",
"transcript": "NM_024767.5",
"protein_id": "NP_079043.3",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 463,
"cds_start": 241,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 616,
"cdna_end": null,
"cdna_length": 2390,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLC1",
"gene_hgnc_id": 2897,
"hgvs_c": "c.241C>G",
"hgvs_p": "p.Leu81Val",
"transcript": "ENST00000631382.1",
"protein_id": "ENSP00000488100.1",
"transcript_support_level": 2,
"aa_start": 81,
"aa_end": null,
"aa_length": 121,
"cds_start": 241,
"cds_end": null,
"cds_length": 367,
"cdna_start": 436,
"cdna_end": null,
"cdna_length": 562,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLC1",
"gene_hgnc_id": 2897,
"hgvs_c": "n.566C>G",
"hgvs_p": null,
"transcript": "ENST00000517333.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 575,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLC1",
"gene_hgnc_id": 2897,
"hgvs_c": "c.-1211C>G",
"hgvs_p": null,
"transcript": "NM_001348082.2",
"protein_id": "NP_001335011.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1017,
"cds_start": -4,
"cds_end": null,
"cds_length": 3054,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7164,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DLC1",
"gene_hgnc_id": 2897,
"dbsnp": "rs3816748",
"frequency_reference_population": 0.02651066,
"hom_count_reference_population": 2550,
"allele_count_reference_population": 42789,
"gnomad_exomes_af": 0.0257654,
"gnomad_genomes_af": 0.0336657,
"gnomad_exomes_ac": 37663,
"gnomad_genomes_ac": 5126,
"gnomad_exomes_homalt": 2239,
"gnomad_genomes_homalt": 311,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0014941990375518799,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.018,
"revel_prediction": "Benign",
"alphamissense_score": 0.0568,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.8,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.145,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000276297.9",
"gene_symbol": "DLC1",
"hgnc_id": 2897,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.241C>G",
"hgvs_p": "p.Leu81Val"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}