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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: 6-32837874-GC-TA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=32837874&ref=GC&alt=TA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "TAP2",
"hgnc_id": 44,
"hgvs_c": "c.359_360delGCinsTA",
"hgvs_p": "p.Ser120Ile",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001290043.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "ENSG00000250264",
"hgnc_id": null,
"hgvs_c": "c.359_360delGCinsTA",
"hgvs_p": "p.Ser120Ile",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000452392.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "6",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 686,
"aa_ref": "S",
"aa_start": 120,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5643,
"cdna_start": 451,
"cds_end": null,
"cds_length": 2061,
"cds_start": 359,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001290043.2",
"gene_hgnc_id": 44,
"gene_symbol": "TAP2",
"hgvs_c": "c.359_360delGCinsTA",
"hgvs_p": "p.Ser120Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000374897.4",
"protein_coding": true,
"protein_id": "NP_001276972.1",
"strand": false,
"transcript": "NM_001290043.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 686,
"aa_ref": "S",
"aa_start": 120,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5643,
"cdna_start": 451,
"cds_end": null,
"cds_length": 2061,
"cds_start": 359,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000374897.4",
"gene_hgnc_id": 44,
"gene_symbol": "TAP2",
"hgvs_c": "c.359_360delGCinsTA",
"hgvs_p": "p.Ser120Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001290043.2",
"protein_coding": true,
"protein_id": "ENSP00000364032.3",
"strand": false,
"transcript": "ENST00000374897.4",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 842,
"aa_ref": "S",
"aa_start": 120,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2705,
"cdna_start": 534,
"cds_end": null,
"cds_length": 2531,
"cds_start": 359,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000452392.2",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000250264",
"hgvs_c": "c.359_360delGCinsTA",
"hgvs_p": "p.Ser120Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000391806.2",
"strand": false,
"transcript": "ENST00000452392.2",
"transcript_support_level": 2
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 697,
"aa_ref": "S",
"aa_start": 120,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2486,
"cdna_start": 451,
"cds_end": null,
"cds_length": 2094,
"cds_start": 359,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000698449.1",
"gene_hgnc_id": 44,
"gene_symbol": "TAP2",
"hgvs_c": "c.359_360delGCinsTA",
"hgvs_p": "p.Ser120Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513734.1",
"strand": false,
"transcript": "ENST00000698449.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 686,
"aa_ref": "S",
"aa_start": 120,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5694,
"cdna_start": 505,
"cds_end": null,
"cds_length": 2061,
"cds_start": 359,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000698440.1",
"gene_hgnc_id": 44,
"gene_symbol": "TAP2",
"hgvs_c": "c.359_360delGCinsTA",
"hgvs_p": "p.Ser120Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513722.1",
"strand": false,
"transcript": "ENST00000698440.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 686,
"aa_ref": "S",
"aa_start": 120,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5721,
"cdna_start": 529,
"cds_end": null,
"cds_length": 2061,
"cds_start": 359,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000698448.1",
"gene_hgnc_id": 44,
"gene_symbol": "TAP2",
"hgvs_c": "c.359_360delGCinsTA",
"hgvs_p": "p.Ser120Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513733.1",
"strand": false,
"transcript": "ENST00000698448.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 686,
"aa_ref": "S",
"aa_start": 120,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2565,
"cdna_start": 468,
"cds_end": null,
"cds_length": 2061,
"cds_start": 359,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000861087.1",
"gene_hgnc_id": 44,
"gene_symbol": "TAP2",
"hgvs_c": "c.359_360delGCinsTA",
"hgvs_p": "p.Ser120Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531146.1",
"strand": false,
"transcript": "ENST00000861087.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 684,
"aa_ref": "S",
"aa_start": 120,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5637,
"cdna_start": 451,
"cds_end": null,
"cds_length": 2055,
"cds_start": 359,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000705716.1",
"gene_hgnc_id": 44,
"gene_symbol": "TAP2",
"hgvs_c": "c.359_360delGCinsTA",
"hgvs_p": "p.Ser120Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000516164.1",
"strand": false,
"transcript": "ENST00000705716.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 684,
"aa_ref": "S",
"aa_start": 120,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2561,
"cdna_start": 465,
"cds_end": null,
"cds_length": 2055,
"cds_start": 359,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000933349.1",
"gene_hgnc_id": 44,
"gene_symbol": "TAP2",
"hgvs_c": "c.359_360delGCinsTA",
"hgvs_p": "p.Ser120Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603408.1",
"strand": false,
"transcript": "ENST00000933349.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 683,
"aa_ref": "S",
"aa_start": 120,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2580,
"cdna_start": 482,
"cds_end": null,
"cds_length": 2052,
"cds_start": 359,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000861086.1",
"gene_hgnc_id": 44,
"gene_symbol": "TAP2",
"hgvs_c": "c.359_360delGCinsTA",
"hgvs_p": "p.Ser120Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531145.1",
"strand": false,
"transcript": "ENST00000861086.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 653,
"aa_ref": "S",
"aa_start": 120,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2511,
"cdna_start": 451,
"cds_end": null,
"cds_length": 1962,
"cds_start": 359,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_018833.3",
"gene_hgnc_id": 44,
"gene_symbol": "TAP2",
"hgvs_c": "c.359_360delGCinsTA",
"hgvs_p": "p.Ser120Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_061313.2",
"strand": false,
"transcript": "NM_018833.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 653,
"aa_ref": "S",
"aa_start": 120,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2509,
"cdna_start": 451,
"cds_end": null,
"cds_length": 1962,
"cds_start": 359,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000652259.1",
"gene_hgnc_id": 44,
"gene_symbol": "TAP2",
"hgvs_c": "c.359_360delGCinsTA",
"hgvs_p": "p.Ser120Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498827.1",
"strand": false,
"transcript": "ENST00000652259.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 628,
"aa_ref": "S",
"aa_start": 120,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2375,
"cdna_start": 478,
"cds_end": null,
"cds_length": 1887,
"cds_start": 359,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000861088.1",
"gene_hgnc_id": 44,
"gene_symbol": "TAP2",
"hgvs_c": "c.359_360delGCinsTA",
"hgvs_p": "p.Ser120Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531147.1",
"strand": false,
"transcript": "ENST00000861088.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 623,
"aa_ref": "S",
"aa_start": 120,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5418,
"cdna_start": 434,
"cds_end": null,
"cds_length": 1872,
"cds_start": 359,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000698441.1",
"gene_hgnc_id": 44,
"gene_symbol": "TAP2",
"hgvs_c": "c.359_360delGCinsTA",
"hgvs_p": "p.Ser120Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513723.1",
"strand": false,
"transcript": "ENST00000698441.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 577,
"aa_ref": "S",
"aa_start": 120,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2291,
"cdna_start": 496,
"cds_end": null,
"cds_length": 1734,
"cds_start": 359,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000933348.1",
"gene_hgnc_id": 44,
"gene_symbol": "TAP2",
"hgvs_c": "c.359_360delGCinsTA",
"hgvs_p": "p.Ser120Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603407.1",
"strand": false,
"transcript": "ENST00000933348.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 6194,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000485701.2",
"gene_hgnc_id": 44,
"gene_symbol": "TAP2",
"hgvs_c": "n.433_434delGCinsTA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000485701.2",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 44,
"gene_symbol": "TAP2",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.655,
"pos": 32837874,
"ref": "GC",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_001290043.2"
}
]
}