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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: 17-47370436-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=47370436&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 47370436,
"ref": "G",
"alt": "C",
"effect": "splice_acceptor_variant,intron_variant",
"transcript": "ENST00000331493.7",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "EFCAB13",
"gene_hgnc_id": 26864,
"hgvs_c": "c.806-1G>C",
"hgvs_p": null,
"transcript": "NM_152347.5",
"protein_id": "NP_689560.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 973,
"cds_start": -4,
"cds_end": null,
"cds_length": 2922,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3957,
"mane_select": "ENST00000331493.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "EFCAB13",
"gene_hgnc_id": 26864,
"hgvs_c": "c.806-1G>C",
"hgvs_p": null,
"transcript": "ENST00000331493.7",
"protein_id": "ENSP00000332111.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 973,
"cds_start": -4,
"cds_end": null,
"cds_length": 2922,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3957,
"mane_select": "NM_152347.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "EFCAB13",
"gene_hgnc_id": 26864,
"hgvs_c": "c.806-1G>C",
"hgvs_p": null,
"transcript": "NM_001426585.1",
"protein_id": "NP_001413514.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 900,
"cds_start": -4,
"cds_end": null,
"cds_length": 2703,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5675,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "EFCAB13",
"gene_hgnc_id": 26864,
"hgvs_c": "c.662-1G>C",
"hgvs_p": null,
"transcript": "NM_001426586.1",
"protein_id": "NP_001413515.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 832,
"cds_start": -4,
"cds_end": null,
"cds_length": 2499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3680,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "EFCAB13",
"gene_hgnc_id": 26864,
"hgvs_c": "c.662-1G>C",
"hgvs_p": null,
"transcript": "NM_001426587.1",
"protein_id": "NP_001413516.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 832,
"cds_start": -4,
"cds_end": null,
"cds_length": 2499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3680,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "EFCAB13",
"gene_hgnc_id": 26864,
"hgvs_c": "c.518-1G>C",
"hgvs_p": null,
"transcript": "NM_001426588.1",
"protein_id": "NP_001413517.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 804,
"cds_start": -4,
"cds_end": null,
"cds_length": 2415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "EFCAB13",
"gene_hgnc_id": 26864,
"hgvs_c": "c.518-1G>C",
"hgvs_p": null,
"transcript": "NM_001195192.2",
"protein_id": "NP_001182121.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 784,
"cds_start": -4,
"cds_end": null,
"cds_length": 2355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3536,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "EFCAB13",
"gene_hgnc_id": 26864,
"hgvs_c": "c.518-1G>C",
"hgvs_p": null,
"transcript": "ENST00000517484.5",
"protein_id": "ENSP00000430048.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 784,
"cds_start": -4,
"cds_end": null,
"cds_length": 2355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3466,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "EFCAB13",
"gene_hgnc_id": 26864,
"hgvs_c": "c.74-1G>C",
"hgvs_p": null,
"transcript": "ENST00000517310.5",
"protein_id": "ENSP00000466136.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 103,
"cds_start": -4,
"cds_end": null,
"cds_length": 313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1477,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "EFCAB13",
"gene_hgnc_id": 26864,
"hgvs_c": "n.796-1G>C",
"hgvs_p": null,
"transcript": "ENST00000520776.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 1979,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EFCAB13",
"gene_hgnc_id": 26864,
"hgvs_c": "n.310-1G>C",
"hgvs_p": null,
"transcript": "ENST00000523978.1",
"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": 548,
"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": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "EFCAB13-DT",
"gene_hgnc_id": 55338,
"hgvs_c": "n.763-26254C>G",
"hgvs_p": null,
"transcript": "ENST00000619646.2",
"protein_id": null,
"transcript_support_level": 6,
"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": 1637,
"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": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "EFCAB13-DT",
"gene_hgnc_id": 55338,
"hgvs_c": "n.741-51816C>G",
"hgvs_p": null,
"transcript": "ENST00000783715.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1515,
"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": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "EFCAB13-DT",
"gene_hgnc_id": 55338,
"hgvs_c": "n.608-26254C>G",
"hgvs_p": null,
"transcript": "ENST00000783716.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1816,
"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": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "EFCAB13-DT",
"gene_hgnc_id": 55338,
"hgvs_c": "n.618-26254C>G",
"hgvs_p": null,
"transcript": "ENST00000783717.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1168,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "EFCAB13",
"gene_hgnc_id": 26864,
"dbsnp": "rs76299620",
"frequency_reference_population": 0.000004923357,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000492336,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.019999999552965164,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.9319999814033508,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.02,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 3.819,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.8,
"spliceai_max_prediction": "Pathogenic",
"dbscsnv_ada_score": 0.999986675681007,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PVS1_Moderate,PM2",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PVS1_Moderate",
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000331493.7",
"gene_symbol": "EFCAB13",
"hgnc_id": 26864,
"effects": [
"splice_acceptor_variant",
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.806-1G>C",
"hgvs_p": null
},
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000783715.1",
"gene_symbol": "EFCAB13-DT",
"hgnc_id": 55338,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.741-51816C>G",
"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
}