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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: 7-16685987-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=16685987&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 16685987,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_014038.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BZW2",
"gene_hgnc_id": 18808,
"hgvs_c": "c.488C>T",
"hgvs_p": "p.Thr163Ile",
"transcript": "NM_014038.3",
"protein_id": "NP_054757.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 419,
"cds_start": 488,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 603,
"cdna_end": null,
"cdna_length": 1804,
"mane_select": "ENST00000258761.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BZW2",
"gene_hgnc_id": 18808,
"hgvs_c": "c.488C>T",
"hgvs_p": "p.Thr163Ile",
"transcript": "ENST00000258761.8",
"protein_id": "ENSP00000258761.3",
"transcript_support_level": 1,
"aa_start": 163,
"aa_end": null,
"aa_length": 419,
"cds_start": 488,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 603,
"cdna_end": null,
"cdna_length": 1804,
"mane_select": "NM_014038.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BZW2",
"gene_hgnc_id": 18808,
"hgvs_c": "c.488C>T",
"hgvs_p": "p.Thr163Ile",
"transcript": "ENST00000415365.5",
"protein_id": "ENSP00000403481.1",
"transcript_support_level": 1,
"aa_start": 163,
"aa_end": null,
"aa_length": 407,
"cds_start": 488,
"cds_end": null,
"cds_length": 1224,
"cdna_start": 669,
"cdna_end": null,
"cdna_length": 1405,
"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": 11,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "BZW2",
"gene_hgnc_id": 18808,
"hgvs_c": "n.405+3142C>T",
"hgvs_p": null,
"transcript": "ENST00000437745.5",
"protein_id": "ENSP00000406395.1",
"transcript_support_level": 1,
"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": 1711,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BZW2",
"gene_hgnc_id": 18808,
"hgvs_c": "c.488C>T",
"hgvs_p": "p.Thr163Ile",
"transcript": "NM_001159767.2",
"protein_id": "NP_001153239.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 419,
"cds_start": 488,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 619,
"cdna_end": null,
"cdna_length": 1820,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BZW2",
"gene_hgnc_id": 18808,
"hgvs_c": "c.488C>T",
"hgvs_p": "p.Thr163Ile",
"transcript": "NM_001362717.2",
"protein_id": "NP_001349646.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 419,
"cds_start": 488,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 534,
"cdna_end": null,
"cdna_length": 1735,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BZW2",
"gene_hgnc_id": 18808,
"hgvs_c": "c.488C>T",
"hgvs_p": "p.Thr163Ile",
"transcript": "ENST00000433922.6",
"protein_id": "ENSP00000397249.2",
"transcript_support_level": 5,
"aa_start": 163,
"aa_end": null,
"aa_length": 419,
"cds_start": 488,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 666,
"cdna_end": null,
"cdna_length": 1862,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BZW2",
"gene_hgnc_id": 18808,
"hgvs_c": "c.260C>T",
"hgvs_p": "p.Thr87Ile",
"transcript": "ENST00000405202.5",
"protein_id": "ENSP00000385577.1",
"transcript_support_level": 5,
"aa_start": 87,
"aa_end": null,
"aa_length": 343,
"cds_start": 260,
"cds_end": null,
"cds_length": 1032,
"cdna_start": 524,
"cdna_end": null,
"cdna_length": 1689,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BZW2",
"gene_hgnc_id": 18808,
"hgvs_c": "c.488C>T",
"hgvs_p": "p.Thr163Ile",
"transcript": "ENST00000446596.5",
"protein_id": "ENSP00000412750.1",
"transcript_support_level": 3,
"aa_start": 163,
"aa_end": null,
"aa_length": 273,
"cds_start": 488,
"cds_end": null,
"cds_length": 822,
"cdna_start": 525,
"cdna_end": null,
"cdna_length": 859,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BZW2",
"gene_hgnc_id": 18808,
"hgvs_c": "c.488C>T",
"hgvs_p": "p.Thr163Ile",
"transcript": "ENST00000438834.5",
"protein_id": "ENSP00000415924.1",
"transcript_support_level": 4,
"aa_start": 163,
"aa_end": null,
"aa_length": 207,
"cds_start": 488,
"cds_end": null,
"cds_length": 626,
"cdna_start": 536,
"cdna_end": null,
"cdna_length": 674,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BZW2",
"gene_hgnc_id": 18808,
"hgvs_c": "c.488C>T",
"hgvs_p": "p.Thr163Ile",
"transcript": "XM_006715707.2",
"protein_id": "XP_006715770.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 419,
"cds_start": 488,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 1536,
"cdna_end": null,
"cdna_length": 2737,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BZW2",
"gene_hgnc_id": 18808,
"hgvs_c": "c.488C>T",
"hgvs_p": "p.Thr163Ile",
"transcript": "XM_006715708.2",
"protein_id": "XP_006715771.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 419,
"cds_start": 488,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 594,
"cdna_end": null,
"cdna_length": 1795,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "?",
"aa_alt": "?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BZW2",
"gene_hgnc_id": 18808,
"hgvs_c": "c.488C>T",
"hgvs_p": "p.???163???",
"transcript": "ENST00000430000.1",
"protein_id": "ENSP00000416531.1",
"transcript_support_level": 4,
"aa_start": 163,
"aa_end": null,
"aa_length": 161,
"cds_start": 488,
"cds_end": null,
"cds_length": 488,
"cdna_start": 617,
"cdna_end": null,
"cdna_length": 617,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BZW2",
"gene_hgnc_id": 18808,
"hgvs_c": "n.469C>T",
"hgvs_p": null,
"transcript": "ENST00000436868.5",
"protein_id": "ENSP00000389183.1",
"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": 1784,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BZW2",
"gene_hgnc_id": 18808,
"hgvs_c": "n.534C>T",
"hgvs_p": null,
"transcript": "ENST00000480517.5",
"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": 2101,
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000235837",
"gene_hgnc_id": null,
"hgvs_c": "n.230G>A",
"hgvs_p": null,
"transcript": "ENST00000745832.1",
"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": 500,
"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": 11,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "BZW2",
"gene_hgnc_id": 18808,
"hgvs_c": "c.-42+3142C>T",
"hgvs_p": null,
"transcript": "NM_001362718.2",
"protein_id": "NP_001349647.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 225,
"cds_start": -4,
"cds_end": null,
"cds_length": 678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1684,
"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": 11,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "BZW2",
"gene_hgnc_id": 18808,
"hgvs_c": "c.-42+3142C>T",
"hgvs_p": null,
"transcript": "NM_001362719.2",
"protein_id": "NP_001349648.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 225,
"cds_start": -4,
"cds_end": null,
"cds_length": 678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1599,
"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": 11,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "BZW2",
"gene_hgnc_id": 18808,
"hgvs_c": "c.405+3142C>T",
"hgvs_p": null,
"transcript": "ENST00000630952.2",
"protein_id": "ENSP00000486454.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 161,
"cds_start": -4,
"cds_end": null,
"cds_length": 486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1721,
"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": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "BZW2",
"gene_hgnc_id": 18808,
"hgvs_c": "n.557+3142C>T",
"hgvs_p": null,
"transcript": "ENST00000432311.5",
"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": 800,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "BZW2",
"gene_hgnc_id": 18808,
"dbsnp": "rs374366357",
"frequency_reference_population": 0.00003929523,
"hom_count_reference_population": 0,
"allele_count_reference_population": 63,
"gnomad_exomes_af": 0.0000247921,
"gnomad_genomes_af": 0.000178605,
"gnomad_exomes_ac": 36,
"gnomad_genomes_ac": 27,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07057034969329834,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.113,
"revel_prediction": "Benign",
"alphamissense_score": 0.1928,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.119,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_014038.3",
"gene_symbol": "BZW2",
"hgnc_id": 18808,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.488C>T",
"hgvs_p": "p.Thr163Ile"
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000745832.1",
"gene_symbol": "ENSG00000235837",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.230G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}