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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: 14-90401385-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=90401385&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 90401385,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001363670.2",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALM1",
"gene_hgnc_id": 1442,
"hgvs_c": "c.161A>T",
"hgvs_p": "p.Asn54Ile",
"transcript": "NM_006888.6",
"protein_id": "NP_008819.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 149,
"cds_start": 161,
"cds_end": null,
"cds_length": 450,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000356978.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006888.6"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALM1",
"gene_hgnc_id": 1442,
"hgvs_c": "c.161A>T",
"hgvs_p": "p.Asn54Ile",
"transcript": "ENST00000356978.9",
"protein_id": "ENSP00000349467.4",
"transcript_support_level": 1,
"aa_start": 54,
"aa_end": null,
"aa_length": 149,
"cds_start": 161,
"cds_end": null,
"cds_length": 450,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006888.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356978.9"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALM1",
"gene_hgnc_id": 1442,
"hgvs_c": "c.53A>T",
"hgvs_p": "p.Asn18Ile",
"transcript": "ENST00000544280.6",
"protein_id": "ENSP00000442853.2",
"transcript_support_level": 1,
"aa_start": 18,
"aa_end": null,
"aa_length": 113,
"cds_start": 53,
"cds_end": null,
"cds_length": 342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000544280.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALM1",
"gene_hgnc_id": 1442,
"hgvs_c": "n.2291A>T",
"hgvs_p": null,
"transcript": "ENST00000553964.5",
"protein_id": null,
"transcript_support_level": 1,
"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": "retained_intron",
"feature": "ENST00000553964.5"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALM1",
"gene_hgnc_id": 1442,
"hgvs_c": "c.161A>T",
"hgvs_p": "p.Asn54Ile",
"transcript": "ENST00000971957.1",
"protein_id": "ENSP00000642016.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 156,
"cds_start": 161,
"cds_end": null,
"cds_length": 471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971957.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALM1",
"gene_hgnc_id": 1442,
"hgvs_c": "c.164A>T",
"hgvs_p": "p.Asn55Ile",
"transcript": "NM_001363670.2",
"protein_id": "NP_001350599.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 150,
"cds_start": 164,
"cds_end": null,
"cds_length": 453,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363670.2"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALM1",
"gene_hgnc_id": 1442,
"hgvs_c": "c.53A>T",
"hgvs_p": "p.Asn18Ile",
"transcript": "NM_001363669.2",
"protein_id": "NP_001350598.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 113,
"cds_start": 53,
"cds_end": null,
"cds_length": 342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363669.2"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALM1",
"gene_hgnc_id": 1442,
"hgvs_c": "c.53A>T",
"hgvs_p": "p.Asn18Ile",
"transcript": "ENST00000447653.8",
"protein_id": "ENSP00000403491.4",
"transcript_support_level": 2,
"aa_start": 18,
"aa_end": null,
"aa_length": 113,
"cds_start": 53,
"cds_end": null,
"cds_length": 342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000447653.8"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALM1",
"gene_hgnc_id": 1442,
"hgvs_c": "c.53A>T",
"hgvs_p": "p.Asn18Ile",
"transcript": "ENST00000553542.5",
"protein_id": "ENSP00000450829.1",
"transcript_support_level": 5,
"aa_start": 18,
"aa_end": null,
"aa_length": 113,
"cds_start": 53,
"cds_end": null,
"cds_length": 342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000553542.5"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALM1",
"gene_hgnc_id": 1442,
"hgvs_c": "c.53A>T",
"hgvs_p": "p.Asn18Ile",
"transcript": "ENST00000659177.1",
"protein_id": "ENSP00000499421.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 113,
"cds_start": 53,
"cds_end": null,
"cds_length": 342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000659177.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALM1",
"gene_hgnc_id": 1442,
"hgvs_c": "c.53A>T",
"hgvs_p": "p.Asn18Ile",
"transcript": "ENST00000663135.1",
"protein_id": "ENSP00000499498.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 113,
"cds_start": 53,
"cds_end": null,
"cds_length": 342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000663135.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALM1",
"gene_hgnc_id": 1442,
"hgvs_c": "c.53A>T",
"hgvs_p": "p.Asn18Ile",
"transcript": "ENST00000557020.5",
"protein_id": "ENSP00000451062.1",
"transcript_support_level": 4,
"aa_start": 18,
"aa_end": null,
"aa_length": 97,
"cds_start": 53,
"cds_end": null,
"cds_length": 295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000557020.5"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALM1",
"gene_hgnc_id": 1442,
"hgvs_c": "n.53A>T",
"hgvs_p": null,
"transcript": "ENST00000553422.1",
"protein_id": "ENSP00000450425.1",
"transcript_support_level": 3,
"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": "ENST00000553422.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALM1",
"gene_hgnc_id": 1442,
"hgvs_c": "n.161A>T",
"hgvs_p": null,
"transcript": "ENST00000553630.1",
"protein_id": "ENSP00000451646.1",
"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": "ENST00000553630.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALM1",
"gene_hgnc_id": 1442,
"hgvs_c": "n.360A>T",
"hgvs_p": null,
"transcript": "ENST00000553995.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000553995.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALM1",
"gene_hgnc_id": 1442,
"hgvs_c": "n.245A>T",
"hgvs_p": null,
"transcript": "ENST00000555267.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000555267.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALM1",
"gene_hgnc_id": 1442,
"hgvs_c": "n.360A>T",
"hgvs_p": null,
"transcript": "ENST00000556757.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000556757.5"
}
],
"gene_symbol": "CALM1",
"gene_hgnc_id": 1442,
"dbsnp": "rs267607276",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9964494705200195,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "CardioboostArm",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.892,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.7017,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.12,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.325,
"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": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS3,PM2,PP2,PP3_Moderate,PP5_Moderate",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PS3",
"PM2",
"PP2",
"PP3_Moderate",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "NM_001363670.2",
"gene_symbol": "CALM1",
"hgnc_id": 1442,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.164A>T",
"hgvs_p": "p.Asn55Ile"
}
],
"clinvar_disease": "Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 4",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1 O:1",
"phenotype_combined": "Catecholaminergic polymorphic ventricular tachycardia 4|Catecholaminergic polymorphic ventricular tachycardia 1",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}