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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: 11-2299544-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=2299544&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 2299544,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001142946.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C11orf21",
"gene_hgnc_id": 13231,
"hgvs_c": "c.311G>A",
"hgvs_p": "p.Arg104Gln",
"transcript": "NM_001329958.2",
"protein_id": "NP_001316887.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 132,
"cds_start": 311,
"cds_end": null,
"cds_length": 399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000381153.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329958.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C11orf21",
"gene_hgnc_id": 13231,
"hgvs_c": "c.311G>A",
"hgvs_p": "p.Arg104Gln",
"transcript": "ENST00000381153.8",
"protein_id": "ENSP00000370545.4",
"transcript_support_level": 1,
"aa_start": 104,
"aa_end": null,
"aa_length": 132,
"cds_start": 311,
"cds_end": null,
"cds_length": 399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001329958.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381153.8"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C11orf21",
"gene_hgnc_id": 13231,
"hgvs_c": "c.449G>A",
"hgvs_p": "p.Arg150Gln",
"transcript": "ENST00000456145.2",
"protein_id": "ENSP00000406541.2",
"transcript_support_level": 1,
"aa_start": 150,
"aa_end": null,
"aa_length": 178,
"cds_start": 449,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000456145.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C11orf21",
"gene_hgnc_id": 13231,
"hgvs_c": "c.449G>A",
"hgvs_p": "p.Arg150Gln",
"transcript": "NM_001142946.3",
"protein_id": "NP_001136418.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 178,
"cds_start": 449,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142946.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C11orf21",
"gene_hgnc_id": 13231,
"hgvs_c": "c.311G>A",
"hgvs_p": "p.Arg104Gln",
"transcript": "ENST00000856028.1",
"protein_id": "ENSP00000526087.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 132,
"cds_start": 311,
"cds_end": null,
"cds_length": 399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856028.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C11orf21",
"gene_hgnc_id": 13231,
"hgvs_c": "c.311G>A",
"hgvs_p": "p.Arg104Gln",
"transcript": "ENST00000856029.1",
"protein_id": "ENSP00000526088.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 132,
"cds_start": 311,
"cds_end": null,
"cds_length": 399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856029.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C11orf21",
"gene_hgnc_id": 13231,
"hgvs_c": "c.311G>A",
"hgvs_p": "p.Arg104Gln",
"transcript": "ENST00000856030.1",
"protein_id": "ENSP00000526089.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 132,
"cds_start": 311,
"cds_end": null,
"cds_length": 399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856030.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C11orf21",
"gene_hgnc_id": 13231,
"hgvs_c": "c.311G>A",
"hgvs_p": "p.Arg104Gln",
"transcript": "ENST00000856031.1",
"protein_id": "ENSP00000526090.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 132,
"cds_start": 311,
"cds_end": null,
"cds_length": 399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856031.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C11orf21",
"gene_hgnc_id": 13231,
"hgvs_c": "c.311G>A",
"hgvs_p": "p.Arg104Gln",
"transcript": "ENST00000856032.1",
"protein_id": "ENSP00000526091.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 132,
"cds_start": 311,
"cds_end": null,
"cds_length": 399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856032.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C11orf21",
"gene_hgnc_id": 13231,
"hgvs_c": "c.311G>A",
"hgvs_p": "p.Arg104Gln",
"transcript": "ENST00000961288.1",
"protein_id": "ENSP00000631347.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 132,
"cds_start": 311,
"cds_end": null,
"cds_length": 399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961288.1"
},
{
"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": "C11orf21",
"gene_hgnc_id": 13231,
"hgvs_c": "n.1353G>A",
"hgvs_p": null,
"transcript": "ENST00000470369.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000470369.1"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C11orf21",
"gene_hgnc_id": 13231,
"hgvs_c": "n.332G>A",
"hgvs_p": null,
"transcript": "ENST00000495467.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000495467.1"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C11orf21",
"gene_hgnc_id": 13231,
"hgvs_c": "n.423G>A",
"hgvs_p": null,
"transcript": "NR_138249.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_138249.2"
}
],
"gene_symbol": "C11orf21",
"gene_hgnc_id": 13231,
"dbsnp": "rs187379934",
"frequency_reference_population": 0.00010188986,
"hom_count_reference_population": 0,
"allele_count_reference_population": 158,
"gnomad_exomes_af": 0.0000986856,
"gnomad_genomes_af": 0.000131308,
"gnomad_exomes_ac": 138,
"gnomad_genomes_ac": 20,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.012851864099502563,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": 0.042,
"revel_prediction": "Benign",
"alphamissense_score": 0.1566,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.121,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001142946.3",
"gene_symbol": "C11orf21",
"hgnc_id": 13231,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.449G>A",
"hgvs_p": "p.Arg150Gln"
}
],
"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
}