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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: 2-26188148-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=26188148&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 26188148,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001168241.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAREM2",
"gene_hgnc_id": 27172,
"hgvs_c": "c.2516G>T",
"hgvs_p": "p.Ser839Ile",
"transcript": "NM_001168241.2",
"protein_id": "NP_001161713.1",
"transcript_support_level": null,
"aa_start": 839,
"aa_end": null,
"aa_length": 874,
"cds_start": 2516,
"cds_end": null,
"cds_length": 2625,
"cdna_start": 2649,
"cdna_end": null,
"cdna_length": 4164,
"mane_select": "ENST00000401533.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAREM2",
"gene_hgnc_id": 27172,
"hgvs_c": "c.2516G>T",
"hgvs_p": "p.Ser839Ile",
"transcript": "ENST00000401533.7",
"protein_id": "ENSP00000384593.1",
"transcript_support_level": 1,
"aa_start": 839,
"aa_end": null,
"aa_length": 874,
"cds_start": 2516,
"cds_end": null,
"cds_length": 2625,
"cdna_start": 2649,
"cdna_end": null,
"cdna_length": 4164,
"mane_select": "NM_001168241.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAREM2",
"gene_hgnc_id": 27172,
"hgvs_c": "c.1886G>T",
"hgvs_p": "p.Ser629Ile",
"transcript": "NM_001191033.2",
"protein_id": "NP_001177962.1",
"transcript_support_level": null,
"aa_start": 629,
"aa_end": null,
"aa_length": 664,
"cds_start": 1886,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 3642,
"cdna_end": null,
"cdna_length": 5157,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAREM2",
"gene_hgnc_id": 27172,
"hgvs_c": "c.1886G>T",
"hgvs_p": "p.Ser629Ile",
"transcript": "ENST00000407684.1",
"protein_id": "ENSP00000384581.1",
"transcript_support_level": 2,
"aa_start": 629,
"aa_end": null,
"aa_length": 664,
"cds_start": 1886,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 3642,
"cdna_end": null,
"cdna_length": 5138,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAREM2",
"gene_hgnc_id": 27172,
"hgvs_c": "c.2510G>T",
"hgvs_p": "p.Ser837Ile",
"transcript": "XM_011532564.3",
"protein_id": "XP_011530866.1",
"transcript_support_level": null,
"aa_start": 837,
"aa_end": null,
"aa_length": 872,
"cds_start": 2510,
"cds_end": null,
"cds_length": 2619,
"cdna_start": 3088,
"cdna_end": null,
"cdna_length": 4603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAREM2",
"gene_hgnc_id": 27172,
"hgvs_c": "c.2510G>T",
"hgvs_p": "p.Ser837Ile",
"transcript": "XM_011532565.4",
"protein_id": "XP_011530867.1",
"transcript_support_level": null,
"aa_start": 837,
"aa_end": null,
"aa_length": 872,
"cds_start": 2510,
"cds_end": null,
"cds_length": 2619,
"cdna_start": 2665,
"cdna_end": null,
"cdna_length": 4180,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAREM2",
"gene_hgnc_id": 27172,
"hgvs_c": "c.2159G>T",
"hgvs_p": "p.Ser720Ile",
"transcript": "XM_011532566.3",
"protein_id": "XP_011530868.1",
"transcript_support_level": null,
"aa_start": 720,
"aa_end": null,
"aa_length": 755,
"cds_start": 2159,
"cds_end": null,
"cds_length": 2268,
"cdna_start": 2417,
"cdna_end": null,
"cdna_length": 3932,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAREM2",
"gene_hgnc_id": 27172,
"hgvs_c": "c.2117G>T",
"hgvs_p": "p.Ser706Ile",
"transcript": "XM_006711951.5",
"protein_id": "XP_006712014.1",
"transcript_support_level": null,
"aa_start": 706,
"aa_end": null,
"aa_length": 741,
"cds_start": 2117,
"cds_end": null,
"cds_length": 2226,
"cdna_start": 2250,
"cdna_end": null,
"cdna_length": 3765,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "GAREM2",
"gene_hgnc_id": 27172,
"hgvs_c": "c.1683+833G>T",
"hgvs_p": null,
"transcript": "XM_011532567.4",
"protein_id": "XP_011530869.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 589,
"cds_start": -4,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3888,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GAREM2",
"gene_hgnc_id": 27172,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4791642129421234,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.23999999463558197,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.21,
"revel_prediction": "Benign",
"alphamissense_score": 0.8878,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.19,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.385,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.24,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001168241.2",
"gene_symbol": "GAREM2",
"hgnc_id": 27172,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2516G>T",
"hgvs_p": "p.Ser839Ile"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}