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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: 20-62956955-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=62956955&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 62956955,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_022082.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A9",
"gene_hgnc_id": 16192,
"hgvs_c": "c.250G>A",
"hgvs_p": "p.Gly84Arg",
"transcript": "NM_022082.4",
"protein_id": "NP_071365.4",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 436,
"cds_start": 250,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 372,
"cdna_end": null,
"cdna_length": 3518,
"mane_select": "ENST00000370351.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A9",
"gene_hgnc_id": 16192,
"hgvs_c": "c.250G>A",
"hgvs_p": "p.Gly84Arg",
"transcript": "ENST00000370351.9",
"protein_id": "ENSP00000359376.4",
"transcript_support_level": 1,
"aa_start": 84,
"aa_end": null,
"aa_length": 436,
"cds_start": 250,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 372,
"cdna_end": null,
"cdna_length": 3518,
"mane_select": "NM_022082.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A9",
"gene_hgnc_id": 16192,
"hgvs_c": "c.232G>A",
"hgvs_p": "p.Gly78Arg",
"transcript": "ENST00000370349.7",
"protein_id": "ENSP00000359374.3",
"transcript_support_level": 1,
"aa_start": 78,
"aa_end": null,
"aa_length": 430,
"cds_start": 232,
"cds_end": null,
"cds_length": 1293,
"cdna_start": 436,
"cdna_end": null,
"cdna_length": 2594,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A9",
"gene_hgnc_id": 16192,
"hgvs_c": "c.232G>A",
"hgvs_p": "p.Gly78Arg",
"transcript": "NM_001302643.2",
"protein_id": "NP_001289572.2",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 430,
"cds_start": 232,
"cds_end": null,
"cds_length": 1293,
"cdna_start": 434,
"cdna_end": null,
"cdna_length": 3580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A9",
"gene_hgnc_id": 16192,
"hgvs_c": "c.310G>A",
"hgvs_p": "p.Gly104Arg",
"transcript": "ENST00000411611.1",
"protein_id": "ENSP00000388215.1",
"transcript_support_level": 2,
"aa_start": 104,
"aa_end": null,
"aa_length": 151,
"cds_start": 310,
"cds_end": null,
"cds_length": 457,
"cdna_start": 418,
"cdna_end": null,
"cdna_length": 565,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A9",
"gene_hgnc_id": 16192,
"hgvs_c": "n.370G>A",
"hgvs_p": null,
"transcript": "ENST00000488738.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 3992,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A9",
"gene_hgnc_id": 16192,
"hgvs_c": "n.372G>A",
"hgvs_p": null,
"transcript": "XR_936601.4",
"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": 1105,
"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": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC17A9",
"gene_hgnc_id": 16192,
"hgvs_c": "c.-104+19G>A",
"hgvs_p": null,
"transcript": "XM_011528978.3",
"protein_id": "XP_011527280.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 316,
"cds_start": -4,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3223,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SLC17A9",
"gene_hgnc_id": 16192,
"dbsnp": "rs187226528",
"frequency_reference_population": 0.0003099222,
"hom_count_reference_population": 1,
"allele_count_reference_population": 500,
"gnomad_exomes_af": 0.000158798,
"gnomad_genomes_af": 0.00175927,
"gnomad_exomes_ac": 232,
"gnomad_genomes_ac": 268,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.01645880937576294,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.279,
"revel_prediction": "Benign",
"alphamissense_score": 0.9467,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.09,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.583,
"phylop100way_prediction": "Uncertain_significance",
"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": -10,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BS2",
"acmg_by_gene": [
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_022082.4",
"gene_symbol": "SLC17A9",
"hgnc_id": 16192,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.250G>A",
"hgvs_p": "p.Gly84Arg"
}
],
"clinvar_disease": "SLC17A9-related disorder,not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided|SLC17A9-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}