← Back to variant description
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: 1-86560314-CT-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=86560314&ref=CT&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 86560314,
"ref": "CT",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "NM_012128.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCA4",
"gene_hgnc_id": 2018,
"hgvs_c": "c.405delT",
"hgvs_p": "p.Asp136fs",
"transcript": "NM_012128.4",
"protein_id": "NP_036260.2",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 919,
"cds_start": 405,
"cds_end": null,
"cds_length": 2760,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000370563.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012128.4"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCA4",
"gene_hgnc_id": 2018,
"hgvs_c": "c.405delT",
"hgvs_p": "p.Asp136fs",
"transcript": "ENST00000370563.3",
"protein_id": "ENSP00000359594.3",
"transcript_support_level": 1,
"aa_start": 135,
"aa_end": null,
"aa_length": 919,
"cds_start": 405,
"cds_end": null,
"cds_length": 2760,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_012128.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370563.3"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCA4",
"gene_hgnc_id": 2018,
"hgvs_c": "c.405delT",
"hgvs_p": "p.Asp136fs",
"transcript": "ENST00000862142.1",
"protein_id": "ENSP00000532201.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 931,
"cds_start": 405,
"cds_end": null,
"cds_length": 2796,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862142.1"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCA4",
"gene_hgnc_id": 2018,
"hgvs_c": "c.405delT",
"hgvs_p": "p.Asp136fs",
"transcript": "ENST00000862141.1",
"protein_id": "ENSP00000532200.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 918,
"cds_start": 405,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862141.1"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCA4",
"gene_hgnc_id": 2018,
"hgvs_c": "c.405delT",
"hgvs_p": "p.Asp136fs",
"transcript": "ENST00000862139.1",
"protein_id": "ENSP00000532198.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 911,
"cds_start": 405,
"cds_end": null,
"cds_length": 2736,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862139.1"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCA4",
"gene_hgnc_id": 2018,
"hgvs_c": "c.405delT",
"hgvs_p": "p.Asp136fs",
"transcript": "ENST00000967246.1",
"protein_id": "ENSP00000637305.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 903,
"cds_start": 405,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967246.1"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCA4",
"gene_hgnc_id": 2018,
"hgvs_c": "c.405delT",
"hgvs_p": "p.Asp136fs",
"transcript": "ENST00000967248.1",
"protein_id": "ENSP00000637307.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 879,
"cds_start": 405,
"cds_end": null,
"cds_length": 2640,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967248.1"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCA4",
"gene_hgnc_id": 2018,
"hgvs_c": "c.405delT",
"hgvs_p": "p.Asp136fs",
"transcript": "ENST00000967250.1",
"protein_id": "ENSP00000637309.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 875,
"cds_start": 405,
"cds_end": null,
"cds_length": 2628,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967250.1"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCA4",
"gene_hgnc_id": 2018,
"hgvs_c": "c.405delT",
"hgvs_p": "p.Asp136fs",
"transcript": "ENST00000967251.1",
"protein_id": "ENSP00000637310.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 868,
"cds_start": 405,
"cds_end": null,
"cds_length": 2607,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967251.1"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCA4",
"gene_hgnc_id": 2018,
"hgvs_c": "c.405delT",
"hgvs_p": "p.Asp136fs",
"transcript": "ENST00000862144.1",
"protein_id": "ENSP00000532203.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 862,
"cds_start": 405,
"cds_end": null,
"cds_length": 2589,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862144.1"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCA4",
"gene_hgnc_id": 2018,
"hgvs_c": "c.405delT",
"hgvs_p": "p.Asp136fs",
"transcript": "ENST00000967247.1",
"protein_id": "ENSP00000637306.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 847,
"cds_start": 405,
"cds_end": null,
"cds_length": 2544,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967247.1"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCA4",
"gene_hgnc_id": 2018,
"hgvs_c": "c.405delT",
"hgvs_p": "p.Asp136fs",
"transcript": "ENST00000862143.1",
"protein_id": "ENSP00000532202.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 844,
"cds_start": 405,
"cds_end": null,
"cds_length": 2535,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862143.1"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCA4",
"gene_hgnc_id": 2018,
"hgvs_c": "c.252delT",
"hgvs_p": "p.Asp85fs",
"transcript": "XM_011541015.3",
"protein_id": "XP_011539317.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 868,
"cds_start": 252,
"cds_end": null,
"cds_length": 2607,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011541015.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CLCA4",
"gene_hgnc_id": 2018,
"hgvs_c": "c.300+243delT",
"hgvs_p": null,
"transcript": "ENST00000862140.1",
"protein_id": "ENSP00000532199.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 774,
"cds_start": null,
"cds_end": null,
"cds_length": 2325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862140.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CLCA4",
"gene_hgnc_id": 2018,
"hgvs_c": "c.300+243delT",
"hgvs_p": null,
"transcript": "ENST00000967249.1",
"protein_id": "ENSP00000637308.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 701,
"cds_start": null,
"cds_end": null,
"cds_length": 2106,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967249.1"
},
{
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCA4",
"gene_hgnc_id": 2018,
"hgvs_c": "n.447delT",
"hgvs_p": null,
"transcript": "NR_024602.2",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "NR_024602.2"
}
],
"gene_symbol": "CLCA4",
"gene_hgnc_id": 2018,
"dbsnp": "rs558449055",
"frequency_reference_population": 0.00032899424,
"hom_count_reference_population": 4,
"allele_count_reference_population": 531,
"gnomad_exomes_af": 0.000172397,
"gnomad_genomes_af": 0.00183232,
"gnomad_exomes_ac": 252,
"gnomad_genomes_ac": 279,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 3,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": -0.966,
"phylop100way_prediction": "Benign",
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP6_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP6_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_012128.4",
"gene_symbol": "CLCA4",
"hgnc_id": 2018,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.405delT",
"hgvs_p": "p.Asp136fs"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}