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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: 1-115684037-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=115684037&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 115684037,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_138959.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VANGL1",
"gene_hgnc_id": 15512,
"hgvs_c": "c.1040A>T",
"hgvs_p": "p.Glu347Val",
"transcript": "NM_138959.3",
"protein_id": "NP_620409.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 524,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000355485.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_138959.3"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VANGL1",
"gene_hgnc_id": 15512,
"hgvs_c": "c.1040A>T",
"hgvs_p": "p.Glu347Val",
"transcript": "ENST00000355485.7",
"protein_id": "ENSP00000347672.2",
"transcript_support_level": 1,
"aa_start": 347,
"aa_end": null,
"aa_length": 524,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_138959.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355485.7"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VANGL1",
"gene_hgnc_id": 15512,
"hgvs_c": "c.1040A>T",
"hgvs_p": "p.Glu347Val",
"transcript": "ENST00000310260.7",
"protein_id": "ENSP00000310800.3",
"transcript_support_level": 1,
"aa_start": 347,
"aa_end": null,
"aa_length": 524,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000310260.7"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VANGL1",
"gene_hgnc_id": 15512,
"hgvs_c": "c.1040A>T",
"hgvs_p": "p.Glu347Val",
"transcript": "ENST00000369509.1",
"protein_id": "ENSP00000358522.1",
"transcript_support_level": 1,
"aa_start": 347,
"aa_end": null,
"aa_length": 524,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369509.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VANGL1",
"gene_hgnc_id": 15512,
"hgvs_c": "c.1034A>T",
"hgvs_p": "p.Glu345Val",
"transcript": "ENST00000369510.8",
"protein_id": "ENSP00000358523.3",
"transcript_support_level": 1,
"aa_start": 345,
"aa_end": null,
"aa_length": 522,
"cds_start": 1034,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369510.8"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VANGL1",
"gene_hgnc_id": 15512,
"hgvs_c": "c.1166A>T",
"hgvs_p": "p.Glu389Val",
"transcript": "ENST00000927747.1",
"protein_id": "ENSP00000597806.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 566,
"cds_start": 1166,
"cds_end": null,
"cds_length": 1701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927747.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VANGL1",
"gene_hgnc_id": 15512,
"hgvs_c": "c.1040A>T",
"hgvs_p": "p.Glu347Val",
"transcript": "ENST00000879940.1",
"protein_id": "ENSP00000549999.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 563,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879940.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VANGL1",
"gene_hgnc_id": 15512,
"hgvs_c": "c.1130A>T",
"hgvs_p": "p.Glu377Val",
"transcript": "ENST00000879938.1",
"protein_id": "ENSP00000549997.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 554,
"cds_start": 1130,
"cds_end": null,
"cds_length": 1665,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879938.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VANGL1",
"gene_hgnc_id": 15512,
"hgvs_c": "c.1130A>T",
"hgvs_p": "p.Glu377Val",
"transcript": "ENST00000879941.1",
"protein_id": "ENSP00000550000.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 554,
"cds_start": 1130,
"cds_end": null,
"cds_length": 1665,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879941.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VANGL1",
"gene_hgnc_id": 15512,
"hgvs_c": "c.1058A>T",
"hgvs_p": "p.Glu353Val",
"transcript": "ENST00000879939.1",
"protein_id": "ENSP00000549998.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 530,
"cds_start": 1058,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879939.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VANGL1",
"gene_hgnc_id": 15512,
"hgvs_c": "c.1040A>T",
"hgvs_p": "p.Glu347Val",
"transcript": "NM_001172412.2",
"protein_id": "NP_001165883.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 524,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001172412.2"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VANGL1",
"gene_hgnc_id": 15512,
"hgvs_c": "c.1034A>T",
"hgvs_p": "p.Glu345Val",
"transcript": "NM_001172411.2",
"protein_id": "NP_001165882.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 522,
"cds_start": 1034,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001172411.2"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VANGL1",
"gene_hgnc_id": 15512,
"hgvs_c": "c.299A>T",
"hgvs_p": "p.Glu100Val",
"transcript": "ENST00000927748.1",
"protein_id": "ENSP00000597807.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 277,
"cds_start": 299,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927748.1"
},
{
"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": "VANGL1",
"gene_hgnc_id": 15512,
"hgvs_c": "n.422A>T",
"hgvs_p": null,
"transcript": "ENST00000474344.1",
"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": "pseudogene",
"feature": "ENST00000474344.1"
},
{
"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": "VANGL1",
"gene_hgnc_id": 15512,
"hgvs_c": "n.324A>T",
"hgvs_p": null,
"transcript": "ENST00000478369.5",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000478369.5"
}
],
"gene_symbol": "VANGL1",
"gene_hgnc_id": 15512,
"dbsnp": "rs34059106",
"frequency_reference_population": 6.840872e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84087e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9329274892807007,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.863,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.5054,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.2,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.938,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_138959.3",
"gene_symbol": "VANGL1",
"hgnc_id": 15512,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1040A>T",
"hgvs_p": "p.Glu347Val"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}