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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: 6-32848058-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=32848058&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 32848058,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000354258.5",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAP1",
"gene_hgnc_id": 43,
"hgvs_c": "c.1601C>T",
"hgvs_p": "p.Thr534Met",
"transcript": "NM_000593.6",
"protein_id": "NP_000584.3",
"transcript_support_level": null,
"aa_start": 534,
"aa_end": null,
"aa_length": 748,
"cds_start": 1601,
"cds_end": null,
"cds_length": 2247,
"cdna_start": 1669,
"cdna_end": null,
"cdna_length": 2685,
"mane_select": "ENST00000354258.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAP1",
"gene_hgnc_id": 43,
"hgvs_c": "c.1601C>T",
"hgvs_p": "p.Thr534Met",
"transcript": "ENST00000354258.5",
"protein_id": "ENSP00000346206.5",
"transcript_support_level": 1,
"aa_start": 534,
"aa_end": null,
"aa_length": 748,
"cds_start": 1601,
"cds_end": null,
"cds_length": 2247,
"cdna_start": 1669,
"cdna_end": null,
"cdna_length": 2685,
"mane_select": "NM_000593.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAP1",
"gene_hgnc_id": 43,
"hgvs_c": "c.1601C>T",
"hgvs_p": "p.Thr534Met",
"transcript": "ENST00000698423.1",
"protein_id": "ENSP00000513711.1",
"transcript_support_level": null,
"aa_start": 534,
"aa_end": null,
"aa_length": 829,
"cds_start": 1601,
"cds_end": null,
"cds_length": 2490,
"cdna_start": 1682,
"cdna_end": null,
"cdna_length": 2793,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAP1",
"gene_hgnc_id": 43,
"hgvs_c": "c.1472C>T",
"hgvs_p": "p.Thr491Met",
"transcript": "ENST00000698424.1",
"protein_id": "ENSP00000513712.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 705,
"cds_start": 1472,
"cds_end": null,
"cds_length": 2118,
"cdna_start": 1535,
"cdna_end": null,
"cdna_length": 2515,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAP1",
"gene_hgnc_id": 43,
"hgvs_c": "c.1412C>T",
"hgvs_p": "p.Thr471Met",
"transcript": "ENST00000698422.1",
"protein_id": "ENSP00000513710.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 685,
"cds_start": 1412,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 1480,
"cdna_end": null,
"cdna_length": 2496,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAP1",
"gene_hgnc_id": 43,
"hgvs_c": "c.998C>T",
"hgvs_p": "p.Thr333Met",
"transcript": "NM_001292022.2",
"protein_id": "NP_001278951.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 547,
"cds_start": 998,
"cds_end": null,
"cds_length": 1644,
"cdna_start": 1170,
"cdna_end": null,
"cdna_length": 2186,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAP1",
"gene_hgnc_id": 43,
"hgvs_c": "c.146C>T",
"hgvs_p": "p.Thr49Met",
"transcript": "ENST00000643049.2",
"protein_id": "ENSP00000494148.2",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 263,
"cds_start": 146,
"cds_end": null,
"cds_length": 792,
"cdna_start": 326,
"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": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAP1",
"gene_hgnc_id": 43,
"hgvs_c": "n.1526C>T",
"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": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAP1",
"gene_hgnc_id": 43,
"hgvs_c": "n.173C>T",
"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": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAP1",
"gene_hgnc_id": 43,
"hgvs_c": "n.1037C>T",
"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": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAP1",
"gene_hgnc_id": 43,
"hgvs_c": "n.1196C>T",
"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": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAP1",
"gene_hgnc_id": 43,
"hgvs_c": "n.*753C>T",
"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": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAP1",
"gene_hgnc_id": 43,
"hgvs_c": "n.*495C>T",
"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": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAP1",
"gene_hgnc_id": 43,
"hgvs_c": "n.*753C>T",
"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": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAP1",
"gene_hgnc_id": 43,
"hgvs_c": "n.*495C>T",
"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+3784G>A",
"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+3188G>A",
"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": "rs192572056",
"frequency_reference_population": 0.000037831098,
"hom_count_reference_population": 2,
"allele_count_reference_population": 61,
"gnomad_exomes_af": 0.00003356,
"gnomad_genomes_af": 0.0000787619,
"gnomad_exomes_ac": 49,
"gnomad_genomes_ac": 12,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.432691365480423,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.532,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.076,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.07,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 0.712,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000354258.5",
"gene_symbol": "TAP1",
"hgnc_id": 43,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1601C>T",
"hgvs_p": "p.Thr534Met"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000395330.6",
"gene_symbol": "PSMB9",
"hgnc_id": 9546,
"effects": [
"intron_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.-10+3784G>A",
"hgvs_p": null
}
],
"clinvar_disease": "MHC class I deficiency",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "MHC class I deficiency",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}