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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: 11-68684970-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=68684970&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 68684970,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_015973.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAL",
"gene_hgnc_id": 4114,
"hgvs_c": "c.47C>T",
"hgvs_p": "p.Ala16Val",
"transcript": "NM_015973.5",
"protein_id": "NP_057057.2",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 123,
"cds_start": 47,
"cds_end": null,
"cds_length": 372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000265643.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015973.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAL",
"gene_hgnc_id": 4114,
"hgvs_c": "c.47C>T",
"hgvs_p": "p.Ala16Val",
"transcript": "ENST00000265643.4",
"protein_id": "ENSP00000265643.3",
"transcript_support_level": 1,
"aa_start": 16,
"aa_end": null,
"aa_length": 123,
"cds_start": 47,
"cds_end": null,
"cds_length": 372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015973.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265643.4"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAL",
"gene_hgnc_id": 4114,
"hgvs_c": "c.47C>T",
"hgvs_p": "p.Ala16Val",
"transcript": "ENST00000933457.1",
"protein_id": "ENSP00000603516.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 189,
"cds_start": 47,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933457.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAL",
"gene_hgnc_id": 4114,
"hgvs_c": "c.47C>T",
"hgvs_p": "p.Ala16Val",
"transcript": "ENST00000933456.1",
"protein_id": "ENSP00000603515.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 141,
"cds_start": 47,
"cds_end": null,
"cds_length": 426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933456.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAL",
"gene_hgnc_id": 4114,
"hgvs_c": "c.47C>T",
"hgvs_p": "p.Ala16Val",
"transcript": "ENST00000933453.1",
"protein_id": "ENSP00000603512.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 123,
"cds_start": 47,
"cds_end": null,
"cds_length": 372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933453.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAL",
"gene_hgnc_id": 4114,
"hgvs_c": "c.47C>T",
"hgvs_p": "p.Ala16Val",
"transcript": "ENST00000933455.1",
"protein_id": "ENSP00000603514.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 123,
"cds_start": 47,
"cds_end": null,
"cds_length": 372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933455.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAL",
"gene_hgnc_id": 4114,
"hgvs_c": "c.47C>T",
"hgvs_p": "p.Ala16Val",
"transcript": "ENST00000933458.1",
"protein_id": "ENSP00000603517.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 121,
"cds_start": 47,
"cds_end": null,
"cds_length": 366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933458.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAL",
"gene_hgnc_id": 4114,
"hgvs_c": "c.47C>T",
"hgvs_p": "p.Ala16Val",
"transcript": "ENST00000933454.1",
"protein_id": "ENSP00000603513.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 97,
"cds_start": 47,
"cds_end": null,
"cds_length": 294,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933454.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAL",
"gene_hgnc_id": 4114,
"hgvs_c": "c.47C>T",
"hgvs_p": "p.Ala16Val",
"transcript": "ENST00000933459.1",
"protein_id": "ENSP00000603518.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 97,
"cds_start": 47,
"cds_end": null,
"cds_length": 294,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933459.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LOC107984343",
"gene_hgnc_id": null,
"hgvs_c": "n.230+2871G>A",
"hgvs_p": null,
"transcript": "XR_001748281.1",
"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": "XR_001748281.1"
}
],
"gene_symbol": "GAL",
"gene_hgnc_id": 4114,
"dbsnp": "rs34725707",
"frequency_reference_population": 0.009224134,
"hom_count_reference_population": 112,
"allele_count_reference_population": 14837,
"gnomad_exomes_af": 0.00937397,
"gnomad_genomes_af": 0.00779188,
"gnomad_exomes_ac": 13650,
"gnomad_genomes_ac": 1187,
"gnomad_exomes_homalt": 99,
"gnomad_genomes_homalt": 13,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0037229955196380615,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.022,
"revel_prediction": "Benign",
"alphamissense_score": 0.1526,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.012,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS2",
"acmg_by_gene": [
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_015973.5",
"gene_symbol": "GAL",
"hgnc_id": 4114,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.47C>T",
"hgvs_p": "p.Ala16Val"
},
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "XR_001748281.1",
"gene_symbol": "LOC107984343",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.230+2871G>A",
"hgvs_p": null
}
],
"clinvar_disease": "Familial temporal lobe epilepsy 8,GAL-related disorder,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "Familial temporal lobe epilepsy 8|GAL-related disorder|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}