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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: 11-14971162-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=14971162&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 14971162,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001741.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALCA",
"gene_hgnc_id": 1437,
"hgvs_c": "c.31G>A",
"hgvs_p": "p.Ala11Thr",
"transcript": "NM_001741.3",
"protein_id": "NP_001732.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 141,
"cds_start": 31,
"cds_end": null,
"cds_length": 426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000331587.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001741.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALCA",
"gene_hgnc_id": 1437,
"hgvs_c": "c.31G>A",
"hgvs_p": "p.Ala11Thr",
"transcript": "ENST00000331587.9",
"protein_id": "ENSP00000331746.4",
"transcript_support_level": 1,
"aa_start": 11,
"aa_end": null,
"aa_length": 141,
"cds_start": 31,
"cds_end": null,
"cds_length": 426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001741.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000331587.9"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALCA",
"gene_hgnc_id": 1437,
"hgvs_c": "c.31G>A",
"hgvs_p": "p.Ala11Thr",
"transcript": "ENST00000396372.2",
"protein_id": "ENSP00000379657.2",
"transcript_support_level": 1,
"aa_start": 11,
"aa_end": null,
"aa_length": 141,
"cds_start": 31,
"cds_end": null,
"cds_length": 426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396372.2"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALCA",
"gene_hgnc_id": 1437,
"hgvs_c": "n.31G>A",
"hgvs_p": null,
"transcript": "ENST00000469608.5",
"protein_id": "ENSP00000420618.1",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000469608.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALCA",
"gene_hgnc_id": 1437,
"hgvs_c": "c.31G>A",
"hgvs_p": "p.Ala11Thr",
"transcript": "NM_001033952.3",
"protein_id": "NP_001029124.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 141,
"cds_start": 31,
"cds_end": null,
"cds_length": 426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001033952.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALCA",
"gene_hgnc_id": 1437,
"hgvs_c": "c.31G>A",
"hgvs_p": "p.Ala11Thr",
"transcript": "NM_001378949.1",
"protein_id": "NP_001365878.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 141,
"cds_start": 31,
"cds_end": null,
"cds_length": 426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378949.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "CALCA",
"gene_hgnc_id": 1437,
"hgvs_c": "c.31G>A",
"hgvs_p": "p.Ala11Thr",
"transcript": "NM_001033953.3",
"protein_id": "NP_001029125.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 128,
"cds_start": 31,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001033953.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "CALCA",
"gene_hgnc_id": 1437,
"hgvs_c": "c.31G>A",
"hgvs_p": "p.Ala11Thr",
"transcript": "NM_001378950.1",
"protein_id": "NP_001365879.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 128,
"cds_start": 31,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378950.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "CALCA",
"gene_hgnc_id": 1437,
"hgvs_c": "c.31G>A",
"hgvs_p": "p.Ala11Thr",
"transcript": "ENST00000486207.6",
"protein_id": "ENSP00000417833.1",
"transcript_support_level": 5,
"aa_start": 11,
"aa_end": null,
"aa_length": 128,
"cds_start": 31,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000486207.6"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "CALCA",
"gene_hgnc_id": 1437,
"hgvs_c": "c.31G>A",
"hgvs_p": "p.Ala11Thr",
"transcript": "ENST00000706042.1",
"protein_id": "ENSP00000516203.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 128,
"cds_start": 31,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706042.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALCA",
"gene_hgnc_id": 1437,
"hgvs_c": "c.31G>A",
"hgvs_p": "p.Ala11Thr",
"transcript": "ENST00000706043.1",
"protein_id": "ENSP00000516204.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 128,
"cds_start": 31,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706043.1"
},
{
"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": 10,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CALCB",
"gene_hgnc_id": 1438,
"hgvs_c": "c.-445-6729C>T",
"hgvs_p": null,
"transcript": "ENST00000523376.5",
"protein_id": "ENSP00000428882.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 138,
"cds_start": null,
"cds_end": null,
"cds_length": 417,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000523376.5"
},
{
"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": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CALCB",
"gene_hgnc_id": 1438,
"hgvs_c": "c.-478-6729C>T",
"hgvs_p": null,
"transcript": "ENST00000887807.1",
"protein_id": "ENSP00000557866.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 127,
"cds_start": null,
"cds_end": null,
"cds_length": 384,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887807.1"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALCA",
"gene_hgnc_id": 1437,
"hgvs_c": "n.147G>A",
"hgvs_p": null,
"transcript": "NR_125898.2",
"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_125898.2"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALCA",
"gene_hgnc_id": 1437,
"hgvs_c": "n.171G>A",
"hgvs_p": null,
"transcript": "NR_166196.1",
"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_166196.1"
}
],
"gene_symbol": "CALCA",
"gene_hgnc_id": 1437,
"dbsnp": "rs1555026441",
"frequency_reference_population": 0.0000041044163,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000410442,
"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": 0.23744890093803406,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.079,
"revel_prediction": "Benign",
"alphamissense_score": 0.1708,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.56,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.959,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001741.3",
"gene_symbol": "CALCA",
"hgnc_id": 1437,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.31G>A",
"hgvs_p": "p.Ala11Thr"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000523376.5",
"gene_symbol": "CALCB",
"hgnc_id": 1438,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-445-6729C>T",
"hgvs_p": null
}
],
"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
}