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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: 6-32829423-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=32829423&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 32829423,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001290043.2",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "I",
"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.1909C>A",
"hgvs_p": "p.Leu637Ile",
"transcript": "NM_001290043.2",
"protein_id": "NP_001276972.1",
"transcript_support_level": null,
"aa_start": 637,
"aa_end": null,
"aa_length": 686,
"cds_start": 1909,
"cds_end": null,
"cds_length": 2061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000374897.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001290043.2"
},
{
"aa_ref": "L",
"aa_alt": "I",
"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.1909C>A",
"hgvs_p": "p.Leu637Ile",
"transcript": "ENST00000374897.4",
"protein_id": "ENSP00000364032.3",
"transcript_support_level": 1,
"aa_start": 637,
"aa_end": null,
"aa_length": 686,
"cds_start": 1909,
"cds_end": null,
"cds_length": 2061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001290043.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374897.4"
},
{
"aa_ref": "L",
"aa_alt": "I",
"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.1909C>A",
"hgvs_p": "p.Leu637Ile",
"transcript": "ENST00000452392.2",
"protein_id": "ENSP00000391806.2",
"transcript_support_level": 2,
"aa_start": 637,
"aa_end": null,
"aa_length": 842,
"cds_start": 1909,
"cds_end": null,
"cds_length": 2531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000452392.2"
},
{
"aa_ref": "L",
"aa_alt": "I",
"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.1942C>A",
"hgvs_p": "p.Leu648Ile",
"transcript": "ENST00000698449.1",
"protein_id": "ENSP00000513734.1",
"transcript_support_level": null,
"aa_start": 648,
"aa_end": null,
"aa_length": 697,
"cds_start": 1942,
"cds_end": null,
"cds_length": 2094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698449.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"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.1909C>A",
"hgvs_p": "p.Leu637Ile",
"transcript": "ENST00000698440.1",
"protein_id": "ENSP00000513722.1",
"transcript_support_level": null,
"aa_start": 637,
"aa_end": null,
"aa_length": 686,
"cds_start": 1909,
"cds_end": null,
"cds_length": 2061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698440.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"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.1909C>A",
"hgvs_p": "p.Leu637Ile",
"transcript": "ENST00000698448.1",
"protein_id": "ENSP00000513733.1",
"transcript_support_level": null,
"aa_start": 637,
"aa_end": null,
"aa_length": 686,
"cds_start": 1909,
"cds_end": null,
"cds_length": 2061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698448.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"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.1909C>A",
"hgvs_p": "p.Leu637Ile",
"transcript": "ENST00000861087.1",
"protein_id": "ENSP00000531146.1",
"transcript_support_level": null,
"aa_start": 637,
"aa_end": null,
"aa_length": 686,
"cds_start": 1909,
"cds_end": null,
"cds_length": 2061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861087.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"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.1909C>A",
"hgvs_p": "p.Leu637Ile",
"transcript": "ENST00000705716.1",
"protein_id": "ENSP00000516164.1",
"transcript_support_level": null,
"aa_start": 637,
"aa_end": null,
"aa_length": 684,
"cds_start": 1909,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000705716.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"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.1903C>A",
"hgvs_p": "p.Leu635Ile",
"transcript": "ENST00000933349.1",
"protein_id": "ENSP00000603408.1",
"transcript_support_level": null,
"aa_start": 635,
"aa_end": null,
"aa_length": 684,
"cds_start": 1903,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933349.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"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.1900C>A",
"hgvs_p": "p.Leu634Ile",
"transcript": "ENST00000861086.1",
"protein_id": "ENSP00000531145.1",
"transcript_support_level": null,
"aa_start": 634,
"aa_end": null,
"aa_length": 683,
"cds_start": 1900,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861086.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"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.1909C>A",
"hgvs_p": "p.Leu637Ile",
"transcript": "NM_018833.3",
"protein_id": "NP_061313.2",
"transcript_support_level": null,
"aa_start": 637,
"aa_end": null,
"aa_length": 653,
"cds_start": 1909,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018833.3"
},
{
"aa_ref": "L",
"aa_alt": "I",
"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.1909C>A",
"hgvs_p": "p.Leu637Ile",
"transcript": "ENST00000652259.1",
"protein_id": "ENSP00000498827.1",
"transcript_support_level": null,
"aa_start": 637,
"aa_end": null,
"aa_length": 653,
"cds_start": 1909,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652259.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"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.1735C>A",
"hgvs_p": "p.Leu579Ile",
"transcript": "ENST00000861088.1",
"protein_id": "ENSP00000531147.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 628,
"cds_start": 1735,
"cds_end": null,
"cds_length": 1887,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861088.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"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.1720C>A",
"hgvs_p": "p.Leu574Ile",
"transcript": "ENST00000698441.1",
"protein_id": "ENSP00000513723.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 623,
"cds_start": 1720,
"cds_end": null,
"cds_length": 1872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698441.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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": "c.1582C>A",
"hgvs_p": "p.Leu528Ile",
"transcript": "ENST00000933348.1",
"protein_id": "ENSP00000603407.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 577,
"cds_start": 1582,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933348.1"
},
{
"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.735C>A",
"hgvs_p": null,
"transcript": "ENST00000464100.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000464100.1"
},
{
"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.5838C>A",
"hgvs_p": null,
"transcript": "ENST00000485701.2",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000485701.2"
},
{
"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.146-479G>T",
"hgvs_p": null,
"transcript": "ENST00000824890.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000824890.1"
}
],
"gene_symbol": "TAP2",
"gene_hgnc_id": 44,
"dbsnp": "rs752068310",
"frequency_reference_population": 0.000003110385,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 6.87112e-7,
"gnomad_genomes_af": 0.0000262895,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8768936395645142,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.644,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1874,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.04,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 3.54,
"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": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001290043.2",
"gene_symbol": "TAP2",
"hgnc_id": 44,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1909C>A",
"hgvs_p": "p.Leu637Ile"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000452392.2",
"gene_symbol": "ENSG00000250264",
"hgnc_id": null,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1909C>A",
"hgvs_p": "p.Leu637Ile"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000824890.1",
"gene_symbol": "ENSG00000307274",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.146-479G>T",
"hgvs_p": null
}
],
"clinvar_disease": "Inborn genetic diseases,MHC class I deficiency",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "MHC class I deficiency|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}