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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: 17-80036690-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=80036690&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 80036690,
"ref": "C",
"alt": "G",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_017950.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC40",
"gene_hgnc_id": 26090,
"hgvs_c": "c.28C>G",
"hgvs_p": "p.Arg10Gly",
"transcript": "NM_017950.4",
"protein_id": "NP_060420.2",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 1142,
"cds_start": 28,
"cds_end": null,
"cds_length": 3429,
"cdna_start": 49,
"cdna_end": null,
"cdna_length": 4288,
"mane_select": "ENST00000397545.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC40",
"gene_hgnc_id": 26090,
"hgvs_c": "c.28C>G",
"hgvs_p": "p.Arg10Gly",
"transcript": "ENST00000397545.9",
"protein_id": "ENSP00000380679.4",
"transcript_support_level": 5,
"aa_start": 10,
"aa_end": null,
"aa_length": 1142,
"cds_start": 28,
"cds_end": null,
"cds_length": 3429,
"cdna_start": 49,
"cdna_end": null,
"cdna_length": 4288,
"mane_select": "NM_017950.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC40",
"gene_hgnc_id": 26090,
"hgvs_c": "c.28C>G",
"hgvs_p": "p.Arg10Gly",
"transcript": "ENST00000374876.4",
"protein_id": "ENSP00000364010.4",
"transcript_support_level": 1,
"aa_start": 10,
"aa_end": null,
"aa_length": 478,
"cds_start": 28,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 33,
"cdna_end": null,
"cdna_length": 2010,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC40",
"gene_hgnc_id": 26090,
"hgvs_c": "c.28C>G",
"hgvs_p": "p.Arg10Gly",
"transcript": "NM_001243342.2",
"protein_id": "NP_001230271.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 1030,
"cds_start": 28,
"cds_end": null,
"cds_length": 3093,
"cdna_start": 49,
"cdna_end": null,
"cdna_length": 3543,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC40",
"gene_hgnc_id": 26090,
"hgvs_c": "c.28C>G",
"hgvs_p": "p.Arg10Gly",
"transcript": "ENST00000374877.7",
"protein_id": "ENSP00000364011.3",
"transcript_support_level": 5,
"aa_start": 10,
"aa_end": null,
"aa_length": 1030,
"cds_start": 28,
"cds_end": null,
"cds_length": 3093,
"cdna_start": 59,
"cdna_end": null,
"cdna_length": 3544,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC40",
"gene_hgnc_id": 26090,
"hgvs_c": "c.28C>G",
"hgvs_p": "p.Arg10Gly",
"transcript": "NM_001330508.2",
"protein_id": "NP_001317437.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 579,
"cds_start": 28,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 49,
"cdna_end": null,
"cdna_length": 3496,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC40",
"gene_hgnc_id": 26090,
"hgvs_c": "c.28C>G",
"hgvs_p": "p.Arg10Gly",
"transcript": "ENST00000269318.9",
"protein_id": "ENSP00000269318.5",
"transcript_support_level": 2,
"aa_start": 10,
"aa_end": null,
"aa_length": 579,
"cds_start": 28,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 39,
"cdna_end": null,
"cdna_length": 1970,
"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_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC40",
"gene_hgnc_id": 26090,
"hgvs_c": "c.-140C>G",
"hgvs_p": null,
"transcript": "ENST00000576033.5",
"protein_id": "ENSP00000459489.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 98,
"cds_start": -4,
"cds_end": null,
"cds_length": 297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 466,
"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_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC40",
"gene_hgnc_id": 26090,
"hgvs_c": "n.27C>G",
"hgvs_p": null,
"transcript": "ENST00000572083.5",
"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": 816,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC40",
"gene_hgnc_id": 26090,
"hgvs_c": "n.39C>G",
"hgvs_p": null,
"transcript": "ENST00000572270.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 460,
"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_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC40",
"gene_hgnc_id": 26090,
"hgvs_c": "n.14C>G",
"hgvs_p": null,
"transcript": "ENST00000576241.1",
"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": 714,
"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": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC40",
"gene_hgnc_id": 26090,
"hgvs_c": "c.-129C>G",
"hgvs_p": null,
"transcript": "ENST00000574099.1",
"protein_id": "ENSP00000460002.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 125,
"cds_start": -4,
"cds_end": null,
"cds_length": 379,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 537,
"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": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC40",
"gene_hgnc_id": 26090,
"hgvs_c": "c.-140C>G",
"hgvs_p": null,
"transcript": "ENST00000576033.5",
"protein_id": "ENSP00000459489.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 98,
"cds_start": -4,
"cds_end": null,
"cds_length": 297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 466,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CCDC40",
"gene_hgnc_id": 26090,
"dbsnp": "rs377599647",
"frequency_reference_population": 0.000030766452,
"hom_count_reference_population": 1,
"allele_count_reference_population": 45,
"gnomad_exomes_af": 0.0000267065,
"gnomad_genomes_af": 0.0000657514,
"gnomad_exomes_ac": 35,
"gnomad_genomes_ac": 10,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.020217597484588623,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.019,
"revel_prediction": "Benign",
"alphamissense_score": 0.038,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.67,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.592,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.000125145898710002,
"dbscsnv_ada_prediction": "Benign",
"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_017950.4",
"gene_symbol": "CCDC40",
"hgnc_id": 26090,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.28C>G",
"hgvs_p": "p.Arg10Gly"
}
],
"clinvar_disease": "Primary ciliary dyskinesia,Primary ciliary dyskinesia 15",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Primary ciliary dyskinesia 15|Primary ciliary dyskinesia",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}