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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: 10-12553346-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=12553346&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 12553346,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_153498.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK1D",
"gene_hgnc_id": 19341,
"hgvs_c": "c.214G>A",
"hgvs_p": "p.Val72Ile",
"transcript": "NM_153498.4",
"protein_id": "NP_705718.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 385,
"cds_start": 214,
"cds_end": null,
"cds_length": 1158,
"cdna_start": 486,
"cdna_end": null,
"cdna_length": 8088,
"mane_select": "ENST00000619168.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK1D",
"gene_hgnc_id": 19341,
"hgvs_c": "c.214G>A",
"hgvs_p": "p.Val72Ile",
"transcript": "ENST00000619168.5",
"protein_id": "ENSP00000478874.1",
"transcript_support_level": 1,
"aa_start": 72,
"aa_end": null,
"aa_length": 385,
"cds_start": 214,
"cds_end": null,
"cds_length": 1158,
"cdna_start": 486,
"cdna_end": null,
"cdna_length": 8088,
"mane_select": "NM_153498.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK1D",
"gene_hgnc_id": 19341,
"hgvs_c": "c.214G>A",
"hgvs_p": "p.Val72Ile",
"transcript": "ENST00000378845.5",
"protein_id": "ENSP00000368122.1",
"transcript_support_level": 1,
"aa_start": 72,
"aa_end": null,
"aa_length": 357,
"cds_start": 214,
"cds_end": null,
"cds_length": 1074,
"cdna_start": 300,
"cdna_end": null,
"cdna_length": 1578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK1D",
"gene_hgnc_id": 19341,
"hgvs_c": "c.214G>A",
"hgvs_p": "p.Val72Ile",
"transcript": "NM_020397.4",
"protein_id": "NP_065130.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 357,
"cds_start": 214,
"cds_end": null,
"cds_length": 1074,
"cdna_start": 486,
"cdna_end": null,
"cdna_length": 2085,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK1D",
"gene_hgnc_id": 19341,
"hgvs_c": "c.175G>A",
"hgvs_p": "p.Val59Ile",
"transcript": "XM_011519591.4",
"protein_id": "XP_011517893.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 372,
"cds_start": 175,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 198,
"cdna_end": null,
"cdna_length": 7800,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK1D",
"gene_hgnc_id": 19341,
"hgvs_c": "c.214G>A",
"hgvs_p": "p.Val72Ile",
"transcript": "XM_006717482.4",
"protein_id": "XP_006717545.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 362,
"cds_start": 214,
"cds_end": null,
"cds_length": 1089,
"cdna_start": 486,
"cdna_end": null,
"cdna_length": 8045,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK1D",
"gene_hgnc_id": 19341,
"hgvs_c": "c.214G>A",
"hgvs_p": "p.Val72Ile",
"transcript": "XM_006717483.5",
"protein_id": "XP_006717546.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 355,
"cds_start": 214,
"cds_end": null,
"cds_length": 1068,
"cdna_start": 486,
"cdna_end": null,
"cdna_length": 8092,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK1D",
"gene_hgnc_id": 19341,
"hgvs_c": "c.-78G>A",
"hgvs_p": null,
"transcript": "NM_001351032.2",
"protein_id": "NP_001337961.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 260,
"cds_start": -4,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2224,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK1D",
"gene_hgnc_id": 19341,
"hgvs_c": "c.-78G>A",
"hgvs_p": null,
"transcript": "XM_047425537.1",
"protein_id": "XP_047281493.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 288,
"cds_start": -4,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9010,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CAMK1D",
"gene_hgnc_id": 19341,
"hgvs_c": "n.260-113390G>A",
"hgvs_p": null,
"transcript": "ENST00000487696.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 473,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CAMK1D",
"gene_hgnc_id": 19341,
"dbsnp": "rs768486499",
"frequency_reference_population": 0.000014891164,
"hom_count_reference_population": 0,
"allele_count_reference_population": 24,
"gnomad_exomes_af": 0.0000157588,
"gnomad_genomes_af": 0.00000657056,
"gnomad_exomes_ac": 23,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.47235482931137085,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.248,
"revel_prediction": "Benign",
"alphamissense_score": 0.4454,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.26,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 9.579,
"phylop100way_prediction": "Pathogenic",
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_153498.4",
"gene_symbol": "CAMK1D",
"hgnc_id": 19341,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.214G>A",
"hgvs_p": "p.Val72Ile"
}
],
"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
}