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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: 22-47031478-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=47031478&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 47031478,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000337137.9",
"consequences": [
{
"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": 13,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "TBC1D22A",
"gene_hgnc_id": 1309,
"hgvs_c": "c.1202-5593C>T",
"hgvs_p": null,
"transcript": "NM_014346.5",
"protein_id": "NP_055161.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 517,
"cds_start": -4,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3758,
"mane_select": "ENST00000337137.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "TBC1D22A",
"gene_hgnc_id": 1309,
"hgvs_c": "c.1202-5593C>T",
"hgvs_p": null,
"transcript": "ENST00000337137.9",
"protein_id": "ENSP00000336724.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 517,
"cds_start": -4,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3758,
"mane_select": "NM_014346.5",
"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": 14,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "TBC1D22A",
"gene_hgnc_id": 1309,
"hgvs_c": "c.1112-5593C>T",
"hgvs_p": null,
"transcript": "ENST00000380995.5",
"protein_id": "ENSP00000370383.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 487,
"cds_start": -4,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3934,
"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": 11,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "TBC1D22A",
"gene_hgnc_id": 1309,
"hgvs_c": "c.968-5593C>T",
"hgvs_p": null,
"transcript": "ENST00000355704.7",
"protein_id": "ENSP00000347932.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 439,
"cds_start": -4,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1886,
"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": 14,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "TBC1D22A",
"gene_hgnc_id": 1309,
"hgvs_c": "c.1112-5593C>T",
"hgvs_p": null,
"transcript": "NM_001284304.2",
"protein_id": "NP_001271233.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 487,
"cds_start": -4,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3895,
"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": 13,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "TBC1D22A",
"gene_hgnc_id": 1309,
"hgvs_c": "c.1061-5593C>T",
"hgvs_p": null,
"transcript": "NM_001284305.2",
"protein_id": "NP_001271234.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 470,
"cds_start": -4,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3697,
"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": 13,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "TBC1D22A",
"gene_hgnc_id": 1309,
"hgvs_c": "c.1061-5593C>T",
"hgvs_p": null,
"transcript": "ENST00000406733.1",
"protein_id": "ENSP00000385634.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 470,
"cds_start": -4,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2267,
"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": 9,
"intron_rank_end": null,
"gene_symbol": "TBC1D22A",
"gene_hgnc_id": 1309,
"hgvs_c": "c.1025-5593C>T",
"hgvs_p": null,
"transcript": "NM_001410803.1",
"protein_id": "NP_001397732.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 458,
"cds_start": -4,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3581,
"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": 9,
"intron_rank_end": null,
"gene_symbol": "TBC1D22A",
"gene_hgnc_id": 1309,
"hgvs_c": "c.1025-5593C>T",
"hgvs_p": null,
"transcript": "ENST00000407381.7",
"protein_id": "ENSP00000384036.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 458,
"cds_start": -4,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1949,
"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": 11,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "TBC1D22A",
"gene_hgnc_id": 1309,
"hgvs_c": "c.968-5593C>T",
"hgvs_p": null,
"transcript": "NM_001284303.2",
"protein_id": "NP_001271232.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 439,
"cds_start": -4,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3524,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "TBC1D22A",
"gene_hgnc_id": 1309,
"hgvs_c": "n.*417-5593C>T",
"hgvs_p": null,
"transcript": "ENST00000394449.6",
"protein_id": "ENSP00000377964.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 2048,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "TBC1D22A",
"gene_hgnc_id": 1309,
"hgvs_c": "n.*89-5593C>T",
"hgvs_p": null,
"transcript": "ENST00000441162.5",
"protein_id": "ENSP00000406214.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 2636,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "TBC1D22A",
"gene_hgnc_id": 1309,
"hgvs_c": "n.1818-5593C>T",
"hgvs_p": null,
"transcript": "NR_104292.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_length": 4243,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "TBC1D22A",
"gene_hgnc_id": 1309,
"hgvs_c": "c.1298-5593C>T",
"hgvs_p": null,
"transcript": "XM_047441306.1",
"protein_id": "XP_047297262.1",
"transcript_support_level": null,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
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"intron_variant"
],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "TBC1D22A",
"gene_hgnc_id": 1309,
"hgvs_c": "c.1298-5593C>T",
"hgvs_p": null,
"transcript": "XM_017028742.3",
"protein_id": "XP_016884231.1",
"transcript_support_level": null,
"aa_start": null,
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"cdna_start": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "TBC1D22A",
"gene_hgnc_id": 1309,
"hgvs_c": "c.1202-5593C>T",
"hgvs_p": null,
"transcript": "XM_017028743.3",
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "TBC1D22A",
"gene_hgnc_id": 1309,
"hgvs_c": "c.1297+33769C>T",
"hgvs_p": null,
"transcript": "XM_047441307.1",
"protein_id": "XP_047297263.1",
"transcript_support_level": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "TBC1D22A",
"gene_hgnc_id": 1309,
"hgvs_c": "c.1201+33769C>T",
"hgvs_p": null,
"transcript": "XM_011530100.4",
"protein_id": "XP_011528402.1",
"transcript_support_level": null,
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"aa_length": 401,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 10,
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"gene_symbol": "TBC1D22A",
"gene_hgnc_id": 1309,
"hgvs_c": "c.*2+33769C>T",
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"transcript": "XM_011530102.4",
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},
{
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"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "TBC1D22A",
"gene_hgnc_id": 1309,
"hgvs_c": "c.*3-5593C>T",
"hgvs_p": null,
"transcript": "XM_047441308.1",
"protein_id": "XP_047297264.1",
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "TBC1D22A",
"gene_hgnc_id": 1309,
"hgvs_c": "c.*3-5593C>T",
"hgvs_p": null,
"transcript": "XM_047441309.1",
"protein_id": "XP_047297265.1",
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
}
],
"gene_symbol": "TBC1D22A",
"gene_hgnc_id": 1309,
"dbsnp": "rs16996195",
"frequency_reference_population": 0.021392938,
"hom_count_reference_population": 107,
"allele_count_reference_population": 3259,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0213929,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 3259,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 107,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8999999761581421,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.9,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -3.126,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000337137.9",
"gene_symbol": "TBC1D22A",
"hgnc_id": 1309,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1202-5593C>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}