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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: 6-149370022-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=149370022&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 149370022,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001292034.3",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "H",
"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": "TAB2",
"gene_hgnc_id": 17075,
"hgvs_c": "c.25G>C",
"hgvs_p": "p.Asp9His",
"transcript": "NM_001292034.3",
"protein_id": "NP_001278963.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 693,
"cds_start": 25,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 418,
"cdna_end": null,
"cdna_length": 4363,
"mane_select": "ENST00000637181.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": true,
"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": "TAB2",
"gene_hgnc_id": 17075,
"hgvs_c": "c.25G>C",
"hgvs_p": "p.Asp9His",
"transcript": "ENST00000637181.2",
"protein_id": "ENSP00000490618.1",
"transcript_support_level": 1,
"aa_start": 9,
"aa_end": null,
"aa_length": 693,
"cds_start": 25,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 418,
"cdna_end": null,
"cdna_length": 4363,
"mane_select": "NM_001292034.3",
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAB2",
"gene_hgnc_id": 17075,
"hgvs_c": "n.25G>C",
"hgvs_p": null,
"transcript": "ENST00000470466.5",
"protein_id": "ENSP00000432709.1",
"transcript_support_level": 1,
"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": 4199,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAB2",
"gene_hgnc_id": 17075,
"hgvs_c": "c.25G>C",
"hgvs_p": "p.Asp9His",
"transcript": "NM_001369506.1",
"protein_id": "NP_001356435.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 693,
"cds_start": 25,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 567,
"cdna_end": null,
"cdna_length": 4512,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAB2",
"gene_hgnc_id": 17075,
"hgvs_c": "c.25G>C",
"hgvs_p": "p.Asp9His",
"transcript": "NM_015093.6",
"protein_id": "NP_055908.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 693,
"cds_start": 25,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 446,
"cdna_end": null,
"cdna_length": 4391,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAB2",
"gene_hgnc_id": 17075,
"hgvs_c": "c.25G>C",
"hgvs_p": "p.Asp9His",
"transcript": "ENST00000367456.5",
"protein_id": "ENSP00000356426.1",
"transcript_support_level": 5,
"aa_start": 9,
"aa_end": null,
"aa_length": 693,
"cds_start": 25,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 602,
"cdna_end": null,
"cdna_length": 4553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAB2",
"gene_hgnc_id": 17075,
"hgvs_c": "c.25G>C",
"hgvs_p": "p.Asp9His",
"transcript": "ENST00000703213.1",
"protein_id": "ENSP00000515239.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 552,
"cds_start": 25,
"cds_end": null,
"cds_length": 1660,
"cdna_start": 433,
"cdna_end": null,
"cdna_length": 2068,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAB2",
"gene_hgnc_id": 17075,
"hgvs_c": "c.25G>C",
"hgvs_p": "p.Asp9His",
"transcript": "ENST00000606797.5",
"protein_id": "ENSP00000475580.1",
"transcript_support_level": 5,
"aa_start": 9,
"aa_end": null,
"aa_length": 32,
"cds_start": 25,
"cds_end": null,
"cds_length": 100,
"cdna_start": 602,
"cdna_end": null,
"cdna_length": 677,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAB2",
"gene_hgnc_id": 17075,
"hgvs_c": "c.25G>C",
"hgvs_p": "p.Asp9His",
"transcript": "XM_011535633.3",
"protein_id": "XP_011533935.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 693,
"cds_start": 25,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 1275,
"cdna_end": null,
"cdna_length": 5220,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAB2",
"gene_hgnc_id": 17075,
"hgvs_c": "c.25G>C",
"hgvs_p": "p.Asp9His",
"transcript": "XM_017010592.3",
"protein_id": "XP_016866081.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 693,
"cds_start": 25,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 350,
"cdna_end": null,
"cdna_length": 4295,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"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": "TAB2",
"gene_hgnc_id": 17075,
"hgvs_c": "c.25G>C",
"hgvs_p": "p.Asp9His",
"transcript": "XM_047418485.1",
"protein_id": "XP_047274441.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 693,
"cds_start": 25,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 10120,
"cdna_end": null,
"cdna_length": 14065,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAB2",
"gene_hgnc_id": 17075,
"hgvs_c": "c.25G>C",
"hgvs_p": "p.Asp9His",
"transcript": "XM_047418486.1",
"protein_id": "XP_047274442.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 693,
"cds_start": 25,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 349,
"cdna_end": null,
"cdna_length": 4294,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAB2",
"gene_hgnc_id": 17075,
"hgvs_c": "c.25G>C",
"hgvs_p": "p.Asp9His",
"transcript": "XM_047418487.1",
"protein_id": "XP_047274443.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 693,
"cds_start": 25,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 359,
"cdna_end": null,
"cdna_length": 4304,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"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": "TAB2",
"gene_hgnc_id": 17075,
"hgvs_c": "c.25G>C",
"hgvs_p": "p.Asp9His",
"transcript": "XM_047418488.1",
"protein_id": "XP_047274444.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 693,
"cds_start": 25,
"cds_end": null,
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"cdna_start": 200,
"cdna_end": null,
"cdna_length": 4145,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"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": "TAB2",
"gene_hgnc_id": 17075,
"hgvs_c": "c.25G>C",
"hgvs_p": "p.Asp9His",
"transcript": "XM_047418489.1",
"protein_id": "XP_047274445.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 693,
"cds_start": 25,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 210,
"cdna_end": null,
"cdna_length": 4155,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"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": "TAB2",
"gene_hgnc_id": 17075,
"hgvs_c": "c.25G>C",
"hgvs_p": "p.Asp9His",
"transcript": "XM_047418490.1",
"protein_id": "XP_047274446.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 693,
"cds_start": 25,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 135,
"cdna_end": null,
"cdna_length": 4080,
"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": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAB2",
"gene_hgnc_id": 17075,
"hgvs_c": "n.440G>C",
"hgvs_p": null,
"transcript": "ENST00000703212.1",
"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": 2026,
"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": 2,
"intron_rank_end": null,
"gene_symbol": "TAB2",
"gene_hgnc_id": 17075,
"hgvs_c": "c.7-7996G>C",
"hgvs_p": null,
"transcript": "NM_001292035.3",
"protein_id": "NP_001278964.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 661,
"cds_start": -4,
"cds_end": null,
"cds_length": 1986,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4181,
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TAB2",
"gene_hgnc_id": 17075,
"hgvs_c": "c.-96-8650G>C",
"hgvs_p": null,
"transcript": "ENST00000636456.1",
"protein_id": "ENSP00000490379.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 409,
"cds_start": -4,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3092,
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TAB2",
"gene_hgnc_id": 17075,
"hgvs_c": "c.-120-7996G>C",
"hgvs_p": null,
"transcript": "ENST00000606202.1",
"protein_id": "ENSP00000476139.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 129,
"cds_start": -4,
"cds_end": null,
"cds_length": 392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 648,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TAB2",
"gene_hgnc_id": 17075,
"dbsnp": "rs757640903",
"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": 0.7879118323326111,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.762,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.941,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.35,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.516,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.06,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001292034.3",
"gene_symbol": "TAB2",
"hgnc_id": 17075,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.25G>C",
"hgvs_p": "p.Asp9His"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}