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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: 15-78631163-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=78631163&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 78631163,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000261751.8",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRNB4",
"gene_hgnc_id": 1964,
"hgvs_c": "c.272C>T",
"hgvs_p": "p.Thr91Ile",
"transcript": "NM_000750.5",
"protein_id": "NP_000741.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 498,
"cds_start": 272,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 349,
"cdna_end": null,
"cdna_length": 2596,
"mane_select": "ENST00000261751.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRNB4",
"gene_hgnc_id": 1964,
"hgvs_c": "c.272C>T",
"hgvs_p": "p.Thr91Ile",
"transcript": "ENST00000261751.8",
"protein_id": "ENSP00000261751.3",
"transcript_support_level": 1,
"aa_start": 91,
"aa_end": null,
"aa_length": 498,
"cds_start": 272,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 349,
"cdna_end": null,
"cdna_length": 2596,
"mane_select": "NM_000750.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRNB4",
"gene_hgnc_id": 1964,
"hgvs_c": "c.272C>T",
"hgvs_p": "p.Thr91Ile",
"transcript": "ENST00000412074.6",
"protein_id": "ENSP00000416386.2",
"transcript_support_level": 1,
"aa_start": 91,
"aa_end": null,
"aa_length": 231,
"cds_start": 272,
"cds_end": null,
"cds_length": 696,
"cdna_start": 384,
"cdna_end": null,
"cdna_length": 1355,
"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": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRNB4",
"gene_hgnc_id": 1964,
"hgvs_c": "n.*180C>T",
"hgvs_p": null,
"transcript": "ENST00000559849.5",
"protein_id": "ENSP00000457404.1",
"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": 2080,
"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": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRNB4",
"gene_hgnc_id": 1964,
"hgvs_c": "n.*180C>T",
"hgvs_p": null,
"transcript": "ENST00000559849.5",
"protein_id": "ENSP00000457404.1",
"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": 2080,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRNB4",
"gene_hgnc_id": 1964,
"hgvs_c": "c.272C>T",
"hgvs_p": "p.Thr91Ile",
"transcript": "NM_001256567.3",
"protein_id": "NP_001243496.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 231,
"cds_start": 272,
"cds_end": null,
"cds_length": 696,
"cdna_start": 349,
"cdna_end": null,
"cdna_length": 1617,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRNB4",
"gene_hgnc_id": 1964,
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Thr88Ile",
"transcript": "XM_011521186.3",
"protein_id": "XP_011519488.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 495,
"cds_start": 263,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 1712,
"cdna_end": null,
"cdna_length": 3959,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRNB4",
"gene_hgnc_id": 1964,
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Thr88Ile",
"transcript": "XM_011521187.3",
"protein_id": "XP_011519489.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 495,
"cds_start": 263,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 1618,
"cdna_end": null,
"cdna_length": 3865,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRNB4",
"gene_hgnc_id": 1964,
"hgvs_c": "c.182C>T",
"hgvs_p": "p.Thr61Ile",
"transcript": "XM_017021885.2",
"protein_id": "XP_016877374.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 468,
"cds_start": 182,
"cds_end": null,
"cds_length": 1407,
"cdna_start": 474,
"cdna_end": null,
"cdna_length": 2721,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRNB4",
"gene_hgnc_id": 1964,
"hgvs_c": "c.182C>T",
"hgvs_p": "p.Thr61Ile",
"transcript": "XM_017021886.2",
"protein_id": "XP_016877375.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 468,
"cds_start": 182,
"cds_end": null,
"cds_length": 1407,
"cdna_start": 2286,
"cdna_end": null,
"cdna_length": 4533,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRNB4",
"gene_hgnc_id": 1964,
"hgvs_c": "c.272C>T",
"hgvs_p": "p.Thr91Ile",
"transcript": "XM_017021887.2",
"protein_id": "XP_016877376.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 463,
"cds_start": 272,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 349,
"cdna_end": null,
"cdna_length": 1691,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRNB4",
"gene_hgnc_id": 1964,
"hgvs_c": "c.272C>T",
"hgvs_p": "p.Thr91Ile",
"transcript": "XM_017021888.2",
"protein_id": "XP_016877377.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 462,
"cds_start": 272,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 349,
"cdna_end": null,
"cdna_length": 1747,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRNB4",
"gene_hgnc_id": 1964,
"hgvs_c": "c.272C>T",
"hgvs_p": "p.Thr91Ile",
"transcript": "XM_017021889.3",
"protein_id": "XP_016877378.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 449,
"cds_start": 272,
"cds_end": null,
"cds_length": 1350,
"cdna_start": 349,
"cdna_end": null,
"cdna_length": 2214,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRNB4",
"gene_hgnc_id": 1964,
"hgvs_c": "c.50C>T",
"hgvs_p": "p.Thr17Ile",
"transcript": "XM_011521190.3",
"protein_id": "XP_011519492.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 424,
"cds_start": 50,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 553,
"cdna_end": null,
"cdna_length": 2800,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRNB4",
"gene_hgnc_id": 1964,
"hgvs_c": "c.50C>T",
"hgvs_p": "p.Thr17Ile",
"transcript": "XM_011521191.3",
"protein_id": "XP_011519493.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 424,
"cds_start": 50,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 200,
"cdna_end": null,
"cdna_length": 2447,
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRNB4",
"gene_hgnc_id": 1964,
"hgvs_c": "n.626C>T",
"hgvs_p": null,
"transcript": "ENST00000560511.5",
"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": 727,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRNB4",
"gene_hgnc_id": 1964,
"hgvs_c": "c.-423C>T",
"hgvs_p": null,
"transcript": "XM_011521192.3",
"protein_id": "XP_011519494.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 316,
"cds_start": -4,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2397,
"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": "ENSG00000259555",
"gene_hgnc_id": null,
"hgvs_c": "n.313-2592G>A",
"hgvs_p": null,
"transcript": "ENST00000821537.1",
"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": 684,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CHRNB4",
"gene_hgnc_id": 1964,
"dbsnp": "rs12914008",
"frequency_reference_population": 0.037273984,
"hom_count_reference_population": 1340,
"allele_count_reference_population": 60162,
"gnomad_exomes_af": 0.0385465,
"gnomad_genomes_af": 0.0250611,
"gnomad_exomes_ac": 56345,
"gnomad_genomes_ac": 3817,
"gnomad_exomes_homalt": 1270,
"gnomad_genomes_homalt": 70,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.013037174940109253,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.15000000596046448,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.273,
"revel_prediction": "Benign",
"alphamissense_score": 0.1461,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.32,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.385,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.15,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000261751.8",
"gene_symbol": "CHRNB4",
"hgnc_id": 1964,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.272C>T",
"hgvs_p": "p.Thr91Ile"
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000821537.1",
"gene_symbol": "ENSG00000259555",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.313-2592G>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}