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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: 1-16055508-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=16055508&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 16055508,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000375679.9",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCNKB",
"gene_hgnc_id": 2027,
"hgvs_c": "c.1830G>A",
"hgvs_p": "p.Trp610*",
"transcript": "NM_000085.5",
"protein_id": "NP_000076.2",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 687,
"cds_start": 1830,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 1936,
"cdna_end": null,
"cdna_length": 2562,
"mane_select": "ENST00000375679.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCNKB",
"gene_hgnc_id": 2027,
"hgvs_c": "c.1830G>A",
"hgvs_p": "p.Trp610*",
"transcript": "ENST00000375679.9",
"protein_id": "ENSP00000364831.5",
"transcript_support_level": 1,
"aa_start": 610,
"aa_end": null,
"aa_length": 687,
"cds_start": 1830,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 1936,
"cdna_end": null,
"cdna_length": 2562,
"mane_select": "NM_000085.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCNKB",
"gene_hgnc_id": 2027,
"hgvs_c": "c.1830G>A",
"hgvs_p": "p.Trp610*",
"transcript": "ENST00000682338.1",
"protein_id": "ENSP00000507062.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 687,
"cds_start": 1830,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 2240,
"cdna_end": null,
"cdna_length": 2869,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCNKB",
"gene_hgnc_id": 2027,
"hgvs_c": "c.1830G>A",
"hgvs_p": "p.Trp610*",
"transcript": "ENST00000682793.1",
"protein_id": "ENSP00000506910.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 687,
"cds_start": 1830,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 2510,
"cdna_end": null,
"cdna_length": 3121,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCNKB",
"gene_hgnc_id": 2027,
"hgvs_c": "c.1830G>A",
"hgvs_p": "p.Trp610*",
"transcript": "ENST00000684324.1",
"protein_id": "ENSP00000507937.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 687,
"cds_start": 1830,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 2734,
"cdna_end": null,
"cdna_length": 3331,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCNKB",
"gene_hgnc_id": 2027,
"hgvs_c": "c.1830G>A",
"hgvs_p": "p.Trp610*",
"transcript": "ENST00000684545.1",
"protein_id": "ENSP00000506733.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 687,
"cds_start": 1830,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 2022,
"cdna_end": null,
"cdna_length": 2592,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCNKB",
"gene_hgnc_id": 2027,
"hgvs_c": "c.1830G>A",
"hgvs_p": "p.Trp610*",
"transcript": "ENST00000683578.1",
"protein_id": "ENSP00000507430.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 686,
"cds_start": 1830,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 2366,
"cdna_end": null,
"cdna_length": 2938,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCNKB",
"gene_hgnc_id": 2027,
"hgvs_c": "c.1323G>A",
"hgvs_p": "p.Trp441*",
"transcript": "NM_001165945.2",
"protein_id": "NP_001159417.2",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 517,
"cds_start": 1323,
"cds_end": null,
"cds_length": 1554,
"cdna_start": 1533,
"cdna_end": null,
"cdna_length": 2174,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCNKB",
"gene_hgnc_id": 2027,
"hgvs_c": "c.1323G>A",
"hgvs_p": "p.Trp441*",
"transcript": "ENST00000375667.7",
"protein_id": "ENSP00000364819.3",
"transcript_support_level": 2,
"aa_start": 441,
"aa_end": null,
"aa_length": 517,
"cds_start": 1323,
"cds_end": null,
"cds_length": 1554,
"cdna_start": 1506,
"cdna_end": null,
"cdna_length": 2129,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCNKB",
"gene_hgnc_id": 2027,
"hgvs_c": "c.297G>A",
"hgvs_p": "p.Trp99*",
"transcript": "ENST00000431772.1",
"protein_id": "ENSP00000389344.1",
"transcript_support_level": 5,
"aa_start": 99,
"aa_end": null,
"aa_length": 146,
"cds_start": 297,
"cds_end": null,
"cds_length": 441,
"cdna_start": 297,
"cdna_end": null,
"cdna_length": 464,
"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": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCNKB",
"gene_hgnc_id": 2027,
"hgvs_c": "n.*1572G>A",
"hgvs_p": null,
"transcript": "ENST00000682838.1",
"protein_id": "ENSP00000507652.1",
"transcript_support_level": null,
"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": 3240,
"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": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCNKB",
"gene_hgnc_id": 2027,
"hgvs_c": "n.1436G>A",
"hgvs_p": null,
"transcript": "ENST00000683606.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2058,
"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": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCNKB",
"gene_hgnc_id": 2027,
"hgvs_c": "n.3365G>A",
"hgvs_p": null,
"transcript": "ENST00000683661.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3970,
"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": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCNKB",
"gene_hgnc_id": 2027,
"hgvs_c": "n.1207G>A",
"hgvs_p": null,
"transcript": "ENST00000684624.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1777,
"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": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCNKB",
"gene_hgnc_id": 2027,
"hgvs_c": "n.*50G>A",
"hgvs_p": null,
"transcript": "ENST00000684714.1",
"protein_id": "ENSP00000506861.1",
"transcript_support_level": null,
"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": 2627,
"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": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCNKB",
"gene_hgnc_id": 2027,
"hgvs_c": "n.1157G>A",
"hgvs_p": null,
"transcript": "ENST00000684731.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1669,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCNKB",
"gene_hgnc_id": 2027,
"hgvs_c": "n.*1572G>A",
"hgvs_p": null,
"transcript": "ENST00000682838.1",
"protein_id": "ENSP00000507652.1",
"transcript_support_level": null,
"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": 3240,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCNKB",
"gene_hgnc_id": 2027,
"hgvs_c": "n.*50G>A",
"hgvs_p": null,
"transcript": "ENST00000684714.1",
"protein_id": "ENSP00000506861.1",
"transcript_support_level": null,
"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": 2627,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CLCNKB",
"gene_hgnc_id": 2027,
"dbsnp": "rs121909136",
"frequency_reference_population": 0.0001004625,
"hom_count_reference_population": 0,
"allele_count_reference_population": 162,
"gnomad_exomes_af": 0.000102017,
"gnomad_genomes_af": 0.0000855241,
"gnomad_exomes_ac": 149,
"gnomad_genomes_ac": 13,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5600000023841858,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"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": 0.56,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 4.018,
"phylop100way_prediction": "Uncertain_significance",
"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": 16,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 16,
"benign_score": 0,
"pathogenic_score": 16,
"criteria": [
"PVS1",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000375679.9",
"gene_symbol": "CLCNKB",
"hgnc_id": 2027,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1830G>A",
"hgvs_p": "p.Trp610*"
}
],
"clinvar_disease": " type 3, with hypocalciuria,Bartter disease type 3,Bartter disease type 4B,Bartter syndrome,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:4",
"phenotype_combined": "Bartter syndrome, type 3, with hypocalciuria|not provided|Bartter disease type 4B;Bartter disease type 3|Bartter disease type 3",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}