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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: 6-32829506-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=32829506&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 32829506,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000374897.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAP2",
"gene_hgnc_id": 44,
"hgvs_c": "c.1826C>T",
"hgvs_p": "p.Ala609Val",
"transcript": "NM_001290043.2",
"protein_id": "NP_001276972.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 686,
"cds_start": 1826,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 1917,
"cdna_end": null,
"cdna_length": 5643,
"mane_select": "ENST00000374897.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAP2",
"gene_hgnc_id": 44,
"hgvs_c": "c.1826C>T",
"hgvs_p": "p.Ala609Val",
"transcript": "ENST00000374897.4",
"protein_id": "ENSP00000364032.3",
"transcript_support_level": 1,
"aa_start": 609,
"aa_end": null,
"aa_length": 686,
"cds_start": 1826,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 1917,
"cdna_end": null,
"cdna_length": 5643,
"mane_select": "NM_001290043.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000250264",
"gene_hgnc_id": null,
"hgvs_c": "c.1826C>T",
"hgvs_p": "p.Ala609Val",
"transcript": "ENST00000452392.2",
"protein_id": "ENSP00000391806.2",
"transcript_support_level": 2,
"aa_start": 609,
"aa_end": null,
"aa_length": 842,
"cds_start": 1826,
"cds_end": null,
"cds_length": 2531,
"cdna_start": 2000,
"cdna_end": null,
"cdna_length": 2705,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAP2",
"gene_hgnc_id": 44,
"hgvs_c": "c.1859C>T",
"hgvs_p": "p.Ala620Val",
"transcript": "ENST00000698449.1",
"protein_id": "ENSP00000513734.1",
"transcript_support_level": null,
"aa_start": 620,
"aa_end": null,
"aa_length": 697,
"cds_start": 1859,
"cds_end": null,
"cds_length": 2094,
"cdna_start": 1950,
"cdna_end": null,
"cdna_length": 2486,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAP2",
"gene_hgnc_id": 44,
"hgvs_c": "c.1826C>T",
"hgvs_p": "p.Ala609Val",
"transcript": "ENST00000698440.1",
"protein_id": "ENSP00000513722.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 686,
"cds_start": 1826,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 1971,
"cdna_end": null,
"cdna_length": 5694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAP2",
"gene_hgnc_id": 44,
"hgvs_c": "c.1826C>T",
"hgvs_p": "p.Ala609Val",
"transcript": "ENST00000698448.1",
"protein_id": "ENSP00000513733.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 686,
"cds_start": 1826,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 1995,
"cdna_end": null,
"cdna_length": 5721,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAP2",
"gene_hgnc_id": 44,
"hgvs_c": "c.1826C>T",
"hgvs_p": "p.Ala609Val",
"transcript": "ENST00000705716.1",
"protein_id": "ENSP00000516164.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 684,
"cds_start": 1826,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 1917,
"cdna_end": null,
"cdna_length": 5637,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAP2",
"gene_hgnc_id": 44,
"hgvs_c": "c.1826C>T",
"hgvs_p": "p.Ala609Val",
"transcript": "NM_018833.3",
"protein_id": "NP_061313.2",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 653,
"cds_start": 1826,
"cds_end": null,
"cds_length": 1962,
"cdna_start": 1917,
"cdna_end": null,
"cdna_length": 2511,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAP2",
"gene_hgnc_id": 44,
"hgvs_c": "c.1826C>T",
"hgvs_p": "p.Ala609Val",
"transcript": "ENST00000652259.1",
"protein_id": "ENSP00000498827.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 653,
"cds_start": 1826,
"cds_end": null,
"cds_length": 1962,
"cdna_start": 1917,
"cdna_end": null,
"cdna_length": 2509,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAP2",
"gene_hgnc_id": 44,
"hgvs_c": "c.1637C>T",
"hgvs_p": "p.Ala546Val",
"transcript": "ENST00000698441.1",
"protein_id": "ENSP00000513723.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 623,
"cds_start": 1637,
"cds_end": null,
"cds_length": 1872,
"cdna_start": 1711,
"cdna_end": null,
"cdna_length": 5418,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAP2",
"gene_hgnc_id": 44,
"hgvs_c": "n.652C>T",
"hgvs_p": null,
"transcript": "ENST00000464100.1",
"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": 849,
"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": "TAP2",
"gene_hgnc_id": 44,
"hgvs_c": "n.5755C>T",
"hgvs_p": null,
"transcript": "ENST00000485701.2",
"protein_id": null,
"transcript_support_level": 3,
"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": 6194,
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000307274",
"gene_hgnc_id": null,
"hgvs_c": "n.146-396G>A",
"hgvs_p": null,
"transcript": "ENST00000824890.1",
"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": 440,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TAP2",
"gene_hgnc_id": 44,
"dbsnp": "rs74770812",
"frequency_reference_population": 0.0020240357,
"hom_count_reference_population": 33,
"allele_count_reference_population": 3267,
"gnomad_exomes_af": 0.00124366,
"gnomad_genomes_af": 0.00951499,
"gnomad_exomes_ac": 1818,
"gnomad_genomes_ac": 1449,
"gnomad_exomes_homalt": 20,
"gnomad_genomes_homalt": 13,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.014017075300216675,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.244,
"revel_prediction": "Benign",
"alphamissense_score": 0.0676,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.28,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.65,
"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": -14,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BS1,BS2",
"acmg_by_gene": [
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000374897.4",
"gene_symbol": "TAP2",
"hgnc_id": 44,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1826C>T",
"hgvs_p": "p.Ala609Val"
},
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000452392.2",
"gene_symbol": "ENSG00000250264",
"hgnc_id": null,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1826C>T",
"hgvs_p": "p.Ala609Val"
},
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000824890.1",
"gene_symbol": "ENSG00000307274",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.146-396G>A",
"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
}