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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: 6-32847125-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=32847125&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 32847125,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000354258.5",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAP1",
"gene_hgnc_id": 43,
"hgvs_c": "c.1983G>A",
"hgvs_p": "p.Pro661Pro",
"transcript": "NM_000593.6",
"protein_id": "NP_000584.3",
"transcript_support_level": null,
"aa_start": 661,
"aa_end": null,
"aa_length": 748,
"cds_start": 1983,
"cds_end": null,
"cds_length": 2247,
"cdna_start": 2051,
"cdna_end": null,
"cdna_length": 2685,
"mane_select": "ENST00000354258.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAP1",
"gene_hgnc_id": 43,
"hgvs_c": "c.1983G>A",
"hgvs_p": "p.Pro661Pro",
"transcript": "ENST00000354258.5",
"protein_id": "ENSP00000346206.5",
"transcript_support_level": 1,
"aa_start": 661,
"aa_end": null,
"aa_length": 748,
"cds_start": 1983,
"cds_end": null,
"cds_length": 2247,
"cdna_start": 2051,
"cdna_end": null,
"cdna_length": 2685,
"mane_select": "NM_000593.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAP1",
"gene_hgnc_id": 43,
"hgvs_c": "c.1983G>A",
"hgvs_p": "p.Pro661Pro",
"transcript": "ENST00000698423.1",
"protein_id": "ENSP00000513711.1",
"transcript_support_level": null,
"aa_start": 661,
"aa_end": null,
"aa_length": 829,
"cds_start": 1983,
"cds_end": null,
"cds_length": 2490,
"cdna_start": 2064,
"cdna_end": null,
"cdna_length": 2793,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAP1",
"gene_hgnc_id": 43,
"hgvs_c": "c.1854G>A",
"hgvs_p": "p.Pro618Pro",
"transcript": "ENST00000698424.1",
"protein_id": "ENSP00000513712.1",
"transcript_support_level": null,
"aa_start": 618,
"aa_end": null,
"aa_length": 705,
"cds_start": 1854,
"cds_end": null,
"cds_length": 2118,
"cdna_start": 1917,
"cdna_end": null,
"cdna_length": 2515,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAP1",
"gene_hgnc_id": 43,
"hgvs_c": "c.1794G>A",
"hgvs_p": "p.Pro598Pro",
"transcript": "ENST00000698422.1",
"protein_id": "ENSP00000513710.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 685,
"cds_start": 1794,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 1862,
"cdna_end": null,
"cdna_length": 2496,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAP1",
"gene_hgnc_id": 43,
"hgvs_c": "c.1380G>A",
"hgvs_p": "p.Pro460Pro",
"transcript": "NM_001292022.2",
"protein_id": "NP_001278951.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 547,
"cds_start": 1380,
"cds_end": null,
"cds_length": 1644,
"cdna_start": 1552,
"cdna_end": null,
"cdna_length": 2186,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAP1",
"gene_hgnc_id": 43,
"hgvs_c": "c.528G>A",
"hgvs_p": "p.Pro176Pro",
"transcript": "ENST00000643049.2",
"protein_id": "ENSP00000494148.2",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 263,
"cds_start": 528,
"cds_end": null,
"cds_length": 792,
"cdna_start": 708,
"cdna_end": null,
"cdna_length": 1319,
"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": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAP1",
"gene_hgnc_id": 43,
"hgvs_c": "n.1908G>A",
"hgvs_p": null,
"transcript": "ENST00000486332.1",
"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": 2542,
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAP1",
"gene_hgnc_id": 43,
"hgvs_c": "n.863G>A",
"hgvs_p": null,
"transcript": "ENST00000487296.1",
"protein_id": null,
"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,
"cdna_end": null,
"cdna_length": 1031,
"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": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAP1",
"gene_hgnc_id": 43,
"hgvs_c": "n.1419G>A",
"hgvs_p": null,
"transcript": "ENST00000643923.1",
"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": 1992,
"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": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAP1",
"gene_hgnc_id": 43,
"hgvs_c": "n.1578G>A",
"hgvs_p": null,
"transcript": "ENST00000645078.1",
"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": 2170,
"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": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAP1",
"gene_hgnc_id": 43,
"hgvs_c": "n.*1135G>A",
"hgvs_p": null,
"transcript": "ENST00000698420.1",
"protein_id": "ENSP00000513708.1",
"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": 2531,
"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": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAP1",
"gene_hgnc_id": 43,
"hgvs_c": "n.*877G>A",
"hgvs_p": null,
"transcript": "ENST00000698421.1",
"protein_id": "ENSP00000513709.1",
"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": 2474,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAP1",
"gene_hgnc_id": 43,
"hgvs_c": "n.*1135G>A",
"hgvs_p": null,
"transcript": "ENST00000698420.1",
"protein_id": "ENSP00000513708.1",
"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": 2531,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAP1",
"gene_hgnc_id": 43,
"hgvs_c": "n.*877G>A",
"hgvs_p": null,
"transcript": "ENST00000698421.1",
"protein_id": "ENSP00000513709.1",
"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": 2474,
"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": "PSMB9",
"gene_hgnc_id": 9546,
"hgvs_c": "c.-10+2851C>T",
"hgvs_p": null,
"transcript": "ENST00000395330.6",
"protein_id": "ENSP00000378739.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 196,
"cds_start": -4,
"cds_end": null,
"cds_length": 591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1941,
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PSMB9",
"gene_hgnc_id": 9546,
"hgvs_c": "c.-10+2255C>T",
"hgvs_p": null,
"transcript": "ENST00000414474.5",
"protein_id": "ENSP00000394363.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 130,
"cds_start": -4,
"cds_end": null,
"cds_length": 395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 439,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TAP1",
"gene_hgnc_id": 43,
"dbsnp": "rs41551515",
"frequency_reference_population": 0.029027442,
"hom_count_reference_population": 792,
"allele_count_reference_population": 46819,
"gnomad_exomes_af": 0.0291036,
"gnomad_genomes_af": 0.0282972,
"gnomad_exomes_ac": 42509,
"gnomad_genomes_ac": 4310,
"gnomad_exomes_homalt": 724,
"gnomad_genomes_homalt": 68,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6100000143051147,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.61,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.681,
"phylop100way_prediction": "Benign",
"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": -15,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -15,
"benign_score": 15,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000354258.5",
"gene_symbol": "TAP1",
"hgnc_id": 43,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1983G>A",
"hgvs_p": "p.Pro661Pro"
},
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000395330.6",
"gene_symbol": "PSMB9",
"hgnc_id": 9546,
"effects": [
"intron_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.-10+2851C>T",
"hgvs_p": null
}
],
"clinvar_disease": "MHC class I deficiency",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "MHC class I deficiency",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}