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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: 11-34118408-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=34118408&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 34118408,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_024662.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAT10",
"gene_hgnc_id": 29830,
"hgvs_c": "c.685G>A",
"hgvs_p": "p.Gly229Ser",
"transcript": "NM_024662.3",
"protein_id": "NP_078938.3",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 1025,
"cds_start": 685,
"cds_end": null,
"cds_length": 3078,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000257829.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024662.3"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAT10",
"gene_hgnc_id": 29830,
"hgvs_c": "c.685G>A",
"hgvs_p": "p.Gly229Ser",
"transcript": "ENST00000257829.8",
"protein_id": "ENSP00000257829.3",
"transcript_support_level": 1,
"aa_start": 229,
"aa_end": null,
"aa_length": 1025,
"cds_start": 685,
"cds_end": null,
"cds_length": 3078,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024662.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000257829.8"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAT10",
"gene_hgnc_id": 29830,
"hgvs_c": "c.685G>A",
"hgvs_p": "p.Gly229Ser",
"transcript": "ENST00000891108.1",
"protein_id": "ENSP00000561167.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 1051,
"cds_start": 685,
"cds_end": null,
"cds_length": 3156,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891108.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAT10",
"gene_hgnc_id": 29830,
"hgvs_c": "c.685G>A",
"hgvs_p": "p.Gly229Ser",
"transcript": "ENST00000891110.1",
"protein_id": "ENSP00000561169.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 1032,
"cds_start": 685,
"cds_end": null,
"cds_length": 3099,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891110.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAT10",
"gene_hgnc_id": 29830,
"hgvs_c": "c.685G>A",
"hgvs_p": "p.Gly229Ser",
"transcript": "ENST00000935946.1",
"protein_id": "ENSP00000606005.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 988,
"cds_start": 685,
"cds_end": null,
"cds_length": 2967,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935946.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAT10",
"gene_hgnc_id": 29830,
"hgvs_c": "c.469G>A",
"hgvs_p": "p.Gly157Ser",
"transcript": "NM_001144030.2",
"protein_id": "NP_001137502.2",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 953,
"cds_start": 469,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001144030.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAT10",
"gene_hgnc_id": 29830,
"hgvs_c": "c.469G>A",
"hgvs_p": "p.Gly157Ser",
"transcript": "ENST00000531159.6",
"protein_id": "ENSP00000433011.2",
"transcript_support_level": 2,
"aa_start": 157,
"aa_end": null,
"aa_length": 953,
"cds_start": 469,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000531159.6"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAT10",
"gene_hgnc_id": 29830,
"hgvs_c": "c.685G>A",
"hgvs_p": "p.Gly229Ser",
"transcript": "ENST00000935947.1",
"protein_id": "ENSP00000606006.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 927,
"cds_start": 685,
"cds_end": null,
"cds_length": 2784,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935947.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAT10",
"gene_hgnc_id": 29830,
"hgvs_c": "c.685G>A",
"hgvs_p": "p.Gly229Ser",
"transcript": "ENST00000891109.1",
"protein_id": "ENSP00000561168.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 915,
"cds_start": 685,
"cds_end": null,
"cds_length": 2748,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891109.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAT10",
"gene_hgnc_id": 29830,
"hgvs_c": "c.685G>A",
"hgvs_p": "p.Gly229Ser",
"transcript": "ENST00000527971.5",
"protein_id": "ENSP00000437324.1",
"transcript_support_level": 2,
"aa_start": 229,
"aa_end": null,
"aa_length": 288,
"cds_start": 685,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000527971.5"
},
{
"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": 26,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "NAT10",
"gene_hgnc_id": 29830,
"hgvs_c": "c.496-4051G>A",
"hgvs_p": null,
"transcript": "ENST00000946066.1",
"protein_id": "ENSP00000616125.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 930,
"cds_start": null,
"cds_end": null,
"cds_length": 2793,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946066.1"
}
],
"gene_symbol": "NAT10",
"gene_hgnc_id": 29830,
"dbsnp": "rs374071566",
"frequency_reference_population": 6.840928e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84093e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.017070084810256958,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.047,
"revel_prediction": "Benign",
"alphamissense_score": 0.0634,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.73,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.088,
"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": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_024662.3",
"gene_symbol": "NAT10",
"hgnc_id": 29830,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.685G>A",
"hgvs_p": "p.Gly229Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}