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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: 17-78995182-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=78995182&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 78995182,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000392446.10",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CANT1",
"gene_hgnc_id": 19721,
"hgvs_c": "c.671T>C",
"hgvs_p": "p.Leu224Pro",
"transcript": "NM_001159773.2",
"protein_id": "NP_001153245.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 401,
"cds_start": 671,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 918,
"cdna_end": null,
"cdna_length": 3287,
"mane_select": "ENST00000392446.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CANT1",
"gene_hgnc_id": 19721,
"hgvs_c": "c.671T>C",
"hgvs_p": "p.Leu224Pro",
"transcript": "ENST00000392446.10",
"protein_id": "ENSP00000376241.4",
"transcript_support_level": 1,
"aa_start": 224,
"aa_end": null,
"aa_length": 401,
"cds_start": 671,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 918,
"cdna_end": null,
"cdna_length": 3287,
"mane_select": "NM_001159773.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CANT1",
"gene_hgnc_id": 19721,
"hgvs_c": "c.671T>C",
"hgvs_p": "p.Leu224Pro",
"transcript": "ENST00000591773.5",
"protein_id": "ENSP00000467437.1",
"transcript_support_level": 1,
"aa_start": 224,
"aa_end": null,
"aa_length": 401,
"cds_start": 671,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 1071,
"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": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CANT1",
"gene_hgnc_id": 19721,
"hgvs_c": "n.68T>C",
"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": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CANT1",
"gene_hgnc_id": 19721,
"hgvs_c": "c.671T>C",
"hgvs_p": "p.Leu224Pro",
"transcript": "NM_001159772.2",
"protein_id": "NP_001153244.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 401,
"cds_start": 671,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 1057,
"cdna_end": null,
"cdna_length": 3426,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CANT1",
"gene_hgnc_id": 19721,
"hgvs_c": "c.671T>C",
"hgvs_p": "p.Leu224Pro",
"transcript": "NM_138793.4",
"protein_id": "NP_620148.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 401,
"cds_start": 671,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 1113,
"cdna_end": null,
"cdna_length": 3482,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CANT1",
"gene_hgnc_id": 19721,
"hgvs_c": "c.671T>C",
"hgvs_p": "p.Leu224Pro",
"transcript": "ENST00000302345.6",
"protein_id": "ENSP00000307674.2",
"transcript_support_level": 2,
"aa_start": 224,
"aa_end": null,
"aa_length": 401,
"cds_start": 671,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 1166,
"cdna_end": null,
"cdna_length": 3534,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CANT1",
"gene_hgnc_id": 19721,
"hgvs_c": "c.671T>C",
"hgvs_p": "p.Leu224Pro",
"transcript": "ENST00000620915.4",
"protein_id": "ENSP00000477798.1",
"transcript_support_level": 5,
"aa_start": 224,
"aa_end": null,
"aa_length": 401,
"cds_start": 671,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 969,
"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.647+1794T>C",
"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": "rs150181226",
"frequency_reference_population": 0.00001611228,
"hom_count_reference_population": 0,
"allele_count_reference_population": 26,
"gnomad_exomes_af": 0.0000143672,
"gnomad_genomes_af": 0.0000328913,
"gnomad_exomes_ac": 21,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9910966753959656,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.928,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9836,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.46,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.698,
"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": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong,PP5_Moderate",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PM2",
"PP3_Strong",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000392446.10",
"gene_symbol": "CANT1",
"hgnc_id": 19721,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.671T>C",
"hgvs_p": "p.Leu224Pro"
}
],
"clinvar_disease": " 7, multiple,Desbuquois dysplasia 1,Epiphyseal dysplasia",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Desbuquois dysplasia 1|Epiphyseal dysplasia, multiple, 7;Desbuquois dysplasia 1",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}