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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: 17-78993857-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=78993857&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 78993857,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000392446.10",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CANT1",
"gene_hgnc_id": 19721,
"hgvs_c": "c.899G>A",
"hgvs_p": "p.Arg300His",
"transcript": "NM_001159773.2",
"protein_id": "NP_001153245.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 401,
"cds_start": 899,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 1146,
"cdna_end": null,
"cdna_length": 3287,
"mane_select": "ENST00000392446.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CANT1",
"gene_hgnc_id": 19721,
"hgvs_c": "c.899G>A",
"hgvs_p": "p.Arg300His",
"transcript": "ENST00000392446.10",
"protein_id": "ENSP00000376241.4",
"transcript_support_level": 1,
"aa_start": 300,
"aa_end": null,
"aa_length": 401,
"cds_start": 899,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 1146,
"cdna_end": null,
"cdna_length": 3287,
"mane_select": "NM_001159773.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CANT1",
"gene_hgnc_id": 19721,
"hgvs_c": "c.899G>A",
"hgvs_p": "p.Arg300His",
"transcript": "ENST00000591773.5",
"protein_id": "ENSP00000467437.1",
"transcript_support_level": 1,
"aa_start": 300,
"aa_end": null,
"aa_length": 401,
"cds_start": 899,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 1299,
"cdna_end": null,
"cdna_length": 1669,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CANT1",
"gene_hgnc_id": 19721,
"hgvs_c": "n.296G>A",
"hgvs_p": null,
"transcript": "ENST00000588096.1",
"protein_id": null,
"transcript_support_level": 1,
"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": 369,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CANT1",
"gene_hgnc_id": 19721,
"hgvs_c": "c.899G>A",
"hgvs_p": "p.Arg300His",
"transcript": "NM_001159772.2",
"protein_id": "NP_001153244.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 401,
"cds_start": 899,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 1285,
"cdna_end": null,
"cdna_length": 3426,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CANT1",
"gene_hgnc_id": 19721,
"hgvs_c": "c.899G>A",
"hgvs_p": "p.Arg300His",
"transcript": "NM_138793.4",
"protein_id": "NP_620148.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 401,
"cds_start": 899,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 1341,
"cdna_end": null,
"cdna_length": 3482,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CANT1",
"gene_hgnc_id": 19721,
"hgvs_c": "c.899G>A",
"hgvs_p": "p.Arg300His",
"transcript": "ENST00000302345.6",
"protein_id": "ENSP00000307674.2",
"transcript_support_level": 2,
"aa_start": 300,
"aa_end": null,
"aa_length": 401,
"cds_start": 899,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 1394,
"cdna_end": null,
"cdna_length": 3534,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CANT1",
"gene_hgnc_id": 19721,
"hgvs_c": "c.899G>A",
"hgvs_p": "p.Arg300His",
"transcript": "ENST00000620915.4",
"protein_id": "ENSP00000477798.1",
"transcript_support_level": 5,
"aa_start": 300,
"aa_end": null,
"aa_length": 401,
"cds_start": 899,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 1197,
"cdna_end": null,
"cdna_length": 3337,
"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": 2,
"intron_rank_end": null,
"gene_symbol": "CANT1",
"gene_hgnc_id": 19721,
"hgvs_c": "n.648-1096G>A",
"hgvs_p": null,
"transcript": "ENST00000592228.1",
"protein_id": "ENSP00000466743.1",
"transcript_support_level": 5,
"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": 1546,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CANT1",
"gene_hgnc_id": 19721,
"dbsnp": "rs267606699",
"frequency_reference_population": 0.0000037551868,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.0000034589,
"gnomad_genomes_af": 0.00000656849,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9936996698379517,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.933,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9571,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.5,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.416,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"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": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM2,PM5,PP3_Strong,PP5_Moderate",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PM2",
"PM5",
"PP3_Strong",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "ENST00000392446.10",
"gene_symbol": "CANT1",
"hgnc_id": 19721,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.899G>A",
"hgvs_p": "p.Arg300His"
}
],
"clinvar_disease": "Desbuquois dysplasia 1",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Desbuquois dysplasia 1",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}