← 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: 21-36461359-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=36461359&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 36461359,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000399135.6",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDN14",
"gene_hgnc_id": 2035,
"hgvs_c": "c.337G>C",
"hgvs_p": "p.Ala113Pro",
"transcript": "NM_001146079.2",
"protein_id": "NP_001139551.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 239,
"cds_start": 337,
"cds_end": null,
"cds_length": 720,
"cdna_start": 1046,
"cdna_end": null,
"cdna_length": 1784,
"mane_select": "ENST00000399135.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDN14",
"gene_hgnc_id": 2035,
"hgvs_c": "c.337G>C",
"hgvs_p": "p.Ala113Pro",
"transcript": "ENST00000399135.6",
"protein_id": "ENSP00000382087.1",
"transcript_support_level": 1,
"aa_start": 113,
"aa_end": null,
"aa_length": 239,
"cds_start": 337,
"cds_end": null,
"cds_length": 720,
"cdna_start": 1046,
"cdna_end": null,
"cdna_length": 1784,
"mane_select": "NM_001146079.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDN14",
"gene_hgnc_id": 2035,
"hgvs_c": "c.337G>C",
"hgvs_p": "p.Ala113Pro",
"transcript": "ENST00000342108.2",
"protein_id": "ENSP00000339292.2",
"transcript_support_level": 1,
"aa_start": 113,
"aa_end": null,
"aa_length": 239,
"cds_start": 337,
"cds_end": null,
"cds_length": 720,
"cdna_start": 715,
"cdna_end": null,
"cdna_length": 1453,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDN14",
"gene_hgnc_id": 2035,
"hgvs_c": "c.337G>C",
"hgvs_p": "p.Ala113Pro",
"transcript": "ENST00000399136.5",
"protein_id": "ENSP00000382088.1",
"transcript_support_level": 1,
"aa_start": 113,
"aa_end": null,
"aa_length": 239,
"cds_start": 337,
"cds_end": null,
"cds_length": 720,
"cdna_start": 592,
"cdna_end": null,
"cdna_length": 1330,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDN14",
"gene_hgnc_id": 2035,
"hgvs_c": "c.337G>C",
"hgvs_p": "p.Ala113Pro",
"transcript": "ENST00000399137.5",
"protein_id": "ENSP00000382090.1",
"transcript_support_level": 1,
"aa_start": 113,
"aa_end": null,
"aa_length": 239,
"cds_start": 337,
"cds_end": null,
"cds_length": 720,
"cdna_start": 1204,
"cdna_end": null,
"cdna_length": 1942,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDN14",
"gene_hgnc_id": 2035,
"hgvs_c": "c.337G>C",
"hgvs_p": "p.Ala113Pro",
"transcript": "ENST00000399139.5",
"protein_id": "ENSP00000382092.1",
"transcript_support_level": 1,
"aa_start": 113,
"aa_end": null,
"aa_length": 239,
"cds_start": 337,
"cds_end": null,
"cds_length": 720,
"cdna_start": 493,
"cdna_end": null,
"cdna_length": 1231,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDN14",
"gene_hgnc_id": 2035,
"hgvs_c": "c.337G>C",
"hgvs_p": "p.Ala113Pro",
"transcript": "NM_001146077.2",
"protein_id": "NP_001139549.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 239,
"cds_start": 337,
"cds_end": null,
"cds_length": 720,
"cdna_start": 715,
"cdna_end": null,
"cdna_length": 1453,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDN14",
"gene_hgnc_id": 2035,
"hgvs_c": "c.337G>C",
"hgvs_p": "p.Ala113Pro",
"transcript": "NM_001146078.3",
"protein_id": "NP_001139550.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 239,
"cds_start": 337,
"cds_end": null,
"cds_length": 720,
"cdna_start": 776,
"cdna_end": null,
"cdna_length": 1514,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDN14",
"gene_hgnc_id": 2035,
"hgvs_c": "c.337G>C",
"hgvs_p": "p.Ala113Pro",
"transcript": "NM_012130.4",
"protein_id": "NP_036262.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 239,
"cds_start": 337,
"cds_end": null,
"cds_length": 720,
"cdna_start": 519,
"cdna_end": null,
"cdna_length": 1257,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDN14",
"gene_hgnc_id": 2035,
"hgvs_c": "c.337G>C",
"hgvs_p": "p.Ala113Pro",
"transcript": "NM_144492.3",
"protein_id": "NP_652763.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 239,
"cds_start": 337,
"cds_end": null,
"cds_length": 720,
"cdna_start": 1236,
"cdna_end": null,
"cdna_length": 1974,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDN14",
"gene_hgnc_id": 2035,
"hgvs_c": "c.337G>C",
"hgvs_p": "p.Ala113Pro",
"transcript": "XM_047440735.1",
"protein_id": "XP_047296691.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 239,
"cds_start": 337,
"cds_end": null,
"cds_length": 720,
"cdna_start": 3167,
"cdna_end": null,
"cdna_length": 3905,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDN14",
"gene_hgnc_id": 2035,
"hgvs_c": "c.337G>C",
"hgvs_p": "p.Ala113Pro",
"transcript": "XM_047440736.1",
"protein_id": "XP_047296692.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 239,
"cds_start": 337,
"cds_end": null,
"cds_length": 720,
"cdna_start": 1539,
"cdna_end": null,
"cdna_length": 2277,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LNCTSI",
"gene_hgnc_id": 56660,
"hgvs_c": "n.468+15352C>G",
"hgvs_p": null,
"transcript": "ENST00000428667.2",
"protein_id": null,
"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": 906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LNCTSI",
"gene_hgnc_id": 56660,
"hgvs_c": "n.54-18872C>G",
"hgvs_p": null,
"transcript": "ENST00000429588.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 893,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LNCTSI",
"gene_hgnc_id": 56660,
"hgvs_c": "n.468+15352C>G",
"hgvs_p": null,
"transcript": "ENST00000715798.1",
"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": 909,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LNCTSI",
"gene_hgnc_id": 56660,
"hgvs_c": "n.504+15352C>G",
"hgvs_p": null,
"transcript": "ENST00000820007.1",
"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": 1196,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CLDN14-AS1",
"gene_hgnc_id": 55953,
"hgvs_c": "n.468+15352C>G",
"hgvs_p": null,
"transcript": "NR_183529.1",
"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": 3040,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CLDN14-AS1",
"gene_hgnc_id": 55953,
"hgvs_c": "n.468+15352C>G",
"hgvs_p": null,
"transcript": "NR_183530.1",
"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": 1445,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CLDN14-AS1",
"gene_hgnc_id": 55953,
"hgvs_c": "n.468+15352C>G",
"hgvs_p": null,
"transcript": "NR_183531.1",
"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": 2420,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CLDN14",
"gene_hgnc_id": 2035,
"dbsnp": "rs138631461",
"frequency_reference_population": 0.000007438788,
"hom_count_reference_population": 0,
"allele_count_reference_population": 12,
"gnomad_exomes_af": 0.00000616075,
"gnomad_genomes_af": 0.0000196974,
"gnomad_exomes_ac": 9,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6383460164070129,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.616,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2058,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.01,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 2.562,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000399135.6",
"gene_symbol": "CLDN14",
"hgnc_id": 2035,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.337G>C",
"hgvs_p": "p.Ala113Pro"
},
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000429588.1",
"gene_symbol": "LNCTSI",
"hgnc_id": 56660,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.54-18872C>G",
"hgvs_p": null
},
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NR_183529.1",
"gene_symbol": "CLDN14-AS1",
"hgnc_id": 55953,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.468+15352C>G",
"hgvs_p": null
}
],
"clinvar_disease": "Vein of Galen aneurysmal malformation",
"clinvar_classification": "association",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Vein of Galen aneurysmal malformation",
"pathogenicity_classification_combined": "association",
"custom_annotations": null
}
],
"message": null
}