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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: 3-113361102-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=113361102&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 113361102,
"ref": "G",
"alt": "T",
"effect": "intron_variant",
"transcript": "NM_001164496.2",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "CFAP44",
"gene_hgnc_id": 25631,
"hgvs_c": "c.2934+2043C>A",
"hgvs_p": null,
"transcript": "NM_001164496.2",
"protein_id": "NP_001157968.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1854,
"cds_start": null,
"cds_end": null,
"cds_length": 5565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000393845.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001164496.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "CFAP44",
"gene_hgnc_id": 25631,
"hgvs_c": "c.2934+2043C>A",
"hgvs_p": null,
"transcript": "ENST00000393845.9",
"protein_id": "ENSP00000377428.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1854,
"cds_start": null,
"cds_end": null,
"cds_length": 5565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001164496.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393845.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGGTBP1",
"gene_hgnc_id": 56479,
"hgvs_c": "n.836G>T",
"hgvs_p": null,
"transcript": "ENST00000462549.1",
"protein_id": null,
"transcript_support_level": 6,
"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": "processed_pseudogene",
"feature": "ENST00000462549.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": null,
"protein_coding": null,
"strand": true,
"consequences": [
"intragenic_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": null,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABGGTBP1",
"gene_hgnc_id": 56479,
"hgvs_c": "n.113361102G>T",
"hgvs_p": null,
"transcript": null,
"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": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CFAP44",
"gene_hgnc_id": 25631,
"hgvs_c": "n.165+2043C>A",
"hgvs_p": null,
"transcript": "ENST00000490481.1",
"protein_id": "ENSP00000419269.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000490481.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": 35,
"intron_rank_end": null,
"gene_symbol": "SPICE1-CFAP44",
"gene_hgnc_id": 58084,
"hgvs_c": "n.5668+2043C>A",
"hgvs_p": null,
"transcript": "NR_183045.1",
"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_183045.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": 35,
"intron_rank_end": null,
"gene_symbol": "SPICE1-CFAP44",
"gene_hgnc_id": 58084,
"hgvs_c": "n.5748+2043C>A",
"hgvs_p": null,
"transcript": "NR_183046.1",
"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_183046.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": 37,
"intron_rank_end": null,
"gene_symbol": "SPICE1-CFAP44",
"gene_hgnc_id": 58084,
"hgvs_c": "n.5958+2043C>A",
"hgvs_p": null,
"transcript": "NR_183047.1",
"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_183047.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "SPICE1-CFAP44",
"gene_hgnc_id": 58084,
"hgvs_c": "n.5326-2227C>A",
"hgvs_p": null,
"transcript": "NR_183048.1",
"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_183048.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": 39,
"intron_rank_end": null,
"gene_symbol": "SPICE1-CFAP44",
"gene_hgnc_id": 58084,
"hgvs_c": "n.5863+2043C>A",
"hgvs_p": null,
"transcript": "NR_183049.1",
"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_183049.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": 38,
"intron_rank_end": null,
"gene_symbol": "SPICE1-CFAP44",
"gene_hgnc_id": 58084,
"hgvs_c": "n.5707+2043C>A",
"hgvs_p": null,
"transcript": "NR_183050.1",
"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_183050.1"
}
],
"gene_symbol": "CFAP44",
"gene_hgnc_id": 25631,
"dbsnp": "rs16860868",
"frequency_reference_population": 0.0010444443,
"hom_count_reference_population": 2,
"allele_count_reference_population": 217,
"gnomad_exomes_af": 0.00138335,
"gnomad_genomes_af": 0.000920423,
"gnomad_exomes_ac": 77,
"gnomad_genomes_ac": 140,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5199999809265137,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.52,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.473,
"phylop100way_prediction": "Uncertain_significance",
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS1",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS1"
],
"verdict": "Benign",
"transcript": "NM_001164496.2",
"gene_symbol": "CFAP44",
"hgnc_id": 25631,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2934+2043C>A",
"hgvs_p": null
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000462549.1",
"gene_symbol": "RABGGTBP1",
"hgnc_id": 56479,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.836G>T",
"hgvs_p": null
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NR_183045.1",
"gene_symbol": "SPICE1-CFAP44",
"hgnc_id": 58084,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.5668+2043C>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}