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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: 12-30963916-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=30963916&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TSPAN11",
"hgnc_id": 30795,
"hgvs_c": "c.175G>A",
"hgvs_p": "p.Ala59Thr",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_001080509.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_score": -4,
"allele_count_reference_population": 46,
"alphamissense_prediction": null,
"alphamissense_score": 0.1069,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.43,
"chr": "12",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.04355373978614807,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 253,
"aa_ref": "A",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5506,
"cdna_start": 235,
"cds_end": null,
"cds_length": 762,
"cds_start": 175,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001370302.1",
"gene_hgnc_id": 30795,
"gene_symbol": "TSPAN11",
"hgvs_c": "c.175G>A",
"hgvs_p": "p.Ala59Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000546076.6",
"protein_coding": true,
"protein_id": "NP_001357231.1",
"strand": true,
"transcript": "NM_001370302.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 253,
"aa_ref": "A",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5506,
"cdna_start": 235,
"cds_end": null,
"cds_length": 762,
"cds_start": 175,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000546076.6",
"gene_hgnc_id": 30795,
"gene_symbol": "TSPAN11",
"hgvs_c": "c.175G>A",
"hgvs_p": "p.Ala59Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001370302.1",
"protein_coding": true,
"protein_id": "ENSP00000437403.1",
"strand": true,
"transcript": "ENST00000546076.6",
"transcript_support_level": 2
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 253,
"aa_ref": "A",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5508,
"cdna_start": 234,
"cds_end": null,
"cds_length": 762,
"cds_start": 175,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000261177.10",
"gene_hgnc_id": 30795,
"gene_symbol": "TSPAN11",
"hgvs_c": "c.175G>A",
"hgvs_p": "p.Ala59Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000261177.9",
"strand": true,
"transcript": "ENST00000261177.10",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 253,
"aa_ref": "A",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5559,
"cdna_start": 288,
"cds_end": null,
"cds_length": 762,
"cds_start": 175,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001080509.3",
"gene_hgnc_id": 30795,
"gene_symbol": "TSPAN11",
"hgvs_c": "c.175G>A",
"hgvs_p": "p.Ala59Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001073978.1",
"strand": true,
"transcript": "NM_001080509.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 253,
"aa_ref": "A",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5581,
"cdna_start": 315,
"cds_end": null,
"cds_length": 762,
"cds_start": 175,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000851526.1",
"gene_hgnc_id": 30795,
"gene_symbol": "TSPAN11",
"hgvs_c": "c.175G>A",
"hgvs_p": "p.Ala59Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521585.1",
"strand": true,
"transcript": "ENST00000851526.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 243,
"aa_ref": "A",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5464,
"cdna_start": 193,
"cds_end": null,
"cds_length": 732,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001370301.1",
"gene_hgnc_id": 30795,
"gene_symbol": "TSPAN11",
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Ala49Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001357230.1",
"strand": true,
"transcript": "NM_001370301.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 200,
"aa_ref": "A",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5348,
"cdna_start": 235,
"cds_end": null,
"cds_length": 603,
"cds_start": 175,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000851525.1",
"gene_hgnc_id": 30795,
"gene_symbol": "TSPAN11",
"hgvs_c": "c.175G>A",
"hgvs_p": "p.Ala59Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521584.1",
"strand": true,
"transcript": "ENST00000851525.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 302,
"aa_ref": "A",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1063,
"cdna_start": 235,
"cds_end": null,
"cds_length": 909,
"cds_start": 175,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_011520679.3",
"gene_hgnc_id": 30795,
"gene_symbol": "TSPAN11",
"hgvs_c": "c.175G>A",
"hgvs_p": "p.Ala59Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011518981.1",
"strand": true,
"transcript": "XM_011520679.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 182,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 988,
"cdna_start": null,
"cds_end": null,
"cds_length": 549,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000535215.5",
"gene_hgnc_id": 30795,
"gene_symbol": "TSPAN11",
"hgvs_c": "c.-39G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000445503.1",
"strand": true,
"transcript": "ENST00000535215.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2806,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XR_001748709.2",
"gene_hgnc_id": 30795,
"gene_symbol": "TSPAN11",
"hgvs_c": "n.235G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_001748709.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2755,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XR_001748710.2",
"gene_hgnc_id": 30795,
"gene_symbol": "TSPAN11",
"hgvs_c": "n.235G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_001748710.2",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs139552987",
"effect": "missense_variant",
"frequency_reference_population": 0.000028507578,
"gene_hgnc_id": 30795,
"gene_symbol": "TSPAN11",
"gnomad_exomes_ac": 40,
"gnomad_exomes_af": 0.0000273709,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 6,
"gnomad_genomes_af": 0.0000394223,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.689,
"pos": 30963916,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.089,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001080509.3"
}
]
}