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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: 2-15467670-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=15467670&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 15467670,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000281513.10",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBAS",
"gene_hgnc_id": 15625,
"hgvs_c": "c.2012T>G",
"hgvs_p": "p.Phe671Cys",
"transcript": "NM_015909.4",
"protein_id": "NP_056993.2",
"transcript_support_level": null,
"aa_start": 671,
"aa_end": null,
"aa_length": 2371,
"cds_start": 2012,
"cds_end": null,
"cds_length": 7116,
"cdna_start": 2042,
"cdna_end": null,
"cdna_length": 7278,
"mane_select": "ENST00000281513.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBAS",
"gene_hgnc_id": 15625,
"hgvs_c": "c.2012T>G",
"hgvs_p": "p.Phe671Cys",
"transcript": "ENST00000281513.10",
"protein_id": "ENSP00000281513.5",
"transcript_support_level": 1,
"aa_start": 671,
"aa_end": null,
"aa_length": 2371,
"cds_start": 2012,
"cds_end": null,
"cds_length": 7116,
"cdna_start": 2042,
"cdna_end": null,
"cdna_length": 7278,
"mane_select": "NM_015909.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBAS",
"gene_hgnc_id": 15625,
"hgvs_c": "c.107T>G",
"hgvs_p": "p.Phe36Cys",
"transcript": "ENST00000700061.1",
"protein_id": "ENSP00000514776.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 1699,
"cds_start": 107,
"cds_end": null,
"cds_length": 5100,
"cdna_start": 109,
"cdna_end": null,
"cdna_length": 5214,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBAS",
"gene_hgnc_id": 15625,
"hgvs_c": "c.1529T>G",
"hgvs_p": "p.Phe510Cys",
"transcript": "ENST00000700066.1",
"protein_id": "ENSP00000514780.1",
"transcript_support_level": null,
"aa_start": 510,
"aa_end": null,
"aa_length": 796,
"cds_start": 1529,
"cds_end": null,
"cds_length": 2391,
"cdna_start": 1958,
"cdna_end": null,
"cdna_length": 2851,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBAS",
"gene_hgnc_id": 15625,
"hgvs_c": "c.1883T>G",
"hgvs_p": "p.Phe628Cys",
"transcript": "ENST00000700069.1",
"protein_id": "ENSP00000514781.1",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 628,
"cds_start": 1883,
"cds_end": null,
"cds_length": 1889,
"cdna_start": 1893,
"cdna_end": null,
"cdna_length": 1899,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBAS",
"gene_hgnc_id": 15625,
"hgvs_c": "c.1883T>G",
"hgvs_p": "p.Phe628Cys",
"transcript": "XM_011510357.3",
"protein_id": "XP_011508659.1",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 2328,
"cds_start": 1883,
"cds_end": null,
"cds_length": 6987,
"cdna_start": 1913,
"cdna_end": null,
"cdna_length": 7149,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBAS",
"gene_hgnc_id": 15625,
"hgvs_c": "c.2012T>G",
"hgvs_p": "p.Phe671Cys",
"transcript": "XM_011510358.3",
"protein_id": "XP_011508660.1",
"transcript_support_level": null,
"aa_start": 671,
"aa_end": null,
"aa_length": 2328,
"cds_start": 2012,
"cds_end": null,
"cds_length": 6987,
"cdna_start": 2042,
"cdna_end": null,
"cdna_length": 7149,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBAS",
"gene_hgnc_id": 15625,
"hgvs_c": "c.2012T>G",
"hgvs_p": "p.Phe671Cys",
"transcript": "XM_017004317.2",
"protein_id": "XP_016859806.1",
"transcript_support_level": null,
"aa_start": 671,
"aa_end": null,
"aa_length": 2293,
"cds_start": 2012,
"cds_end": null,
"cds_length": 6882,
"cdna_start": 2042,
"cdna_end": null,
"cdna_length": 7118,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBAS",
"gene_hgnc_id": 15625,
"hgvs_c": "c.2012T>G",
"hgvs_p": "p.Phe671Cys",
"transcript": "XM_047444733.1",
"protein_id": "XP_047300689.1",
"transcript_support_level": null,
"aa_start": 671,
"aa_end": null,
"aa_length": 2293,
"cds_start": 2012,
"cds_end": null,
"cds_length": 6882,
"cdna_start": 2042,
"cdna_end": null,
"cdna_length": 7367,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBAS",
"gene_hgnc_id": 15625,
"hgvs_c": "c.1883T>G",
"hgvs_p": "p.Phe628Cys",
"transcript": "XM_047444734.1",
"protein_id": "XP_047300690.1",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 2285,
"cds_start": 1883,
"cds_end": null,
"cds_length": 6858,
"cdna_start": 1913,
"cdna_end": null,
"cdna_length": 7020,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBAS",
"gene_hgnc_id": 15625,
"hgvs_c": "c.1373T>G",
"hgvs_p": "p.Phe458Cys",
"transcript": "XM_047444735.1",
"protein_id": "XP_047300691.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 2158,
"cds_start": 1373,
"cds_end": null,
"cds_length": 6477,
"cdna_start": 1457,
"cdna_end": null,
"cdna_length": 6693,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBAS",
"gene_hgnc_id": 15625,
"hgvs_c": "n.107T>G",
"hgvs_p": null,
"transcript": "ENST00000700062.1",
"protein_id": "ENSP00000514777.1",
"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": 5203,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBAS",
"gene_hgnc_id": 15625,
"hgvs_c": "n.2025T>G",
"hgvs_p": null,
"transcript": "ENST00000700065.1",
"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": 9548,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBAS",
"gene_hgnc_id": 15625,
"hgvs_c": "n.2027T>G",
"hgvs_p": null,
"transcript": "ENST00000700067.1",
"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": 2784,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBAS",
"gene_hgnc_id": 15625,
"hgvs_c": "n.2027T>G",
"hgvs_p": null,
"transcript": "ENST00000700068.1",
"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": 3977,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBAS",
"gene_hgnc_id": 15625,
"hgvs_c": "n.2042T>G",
"hgvs_p": null,
"transcript": "NR_052013.3",
"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": 7082,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBAS",
"gene_hgnc_id": 15625,
"hgvs_c": "n.2042T>G",
"hgvs_p": null,
"transcript": "XR_007076390.1",
"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": 7254,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NBAS",
"gene_hgnc_id": 15625,
"dbsnp": "rs143212851",
"frequency_reference_population": 0.0001569438,
"hom_count_reference_population": 0,
"allele_count_reference_population": 253,
"gnomad_exomes_af": 0.00015618,
"gnomad_genomes_af": 0.000164273,
"gnomad_exomes_ac": 228,
"gnomad_genomes_ac": 25,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7628822922706604,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.426,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.5742,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.05,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.795,
"phylop100way_prediction": "Pathogenic",
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 0,
"pathogenic_score": 1,
"criteria": [
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000281513.10",
"gene_symbol": "NBAS",
"hgnc_id": 15625,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2012T>G",
"hgvs_p": "p.Phe671Cys"
}
],
"clinvar_disease": "Infantile liver failure syndrome 2,Short stature-optic atrophy-Pelger-Huët anomaly syndrome,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:4 LB:1",
"phenotype_combined": "Short stature-optic atrophy-Pelger-Huët anomaly syndrome|not provided|Infantile liver failure syndrome 2;Short stature-optic atrophy-Pelger-Huët anomaly syndrome",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}