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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: 11-73975503-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=73975503&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 73975503,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_003355.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UCP2",
"gene_hgnc_id": 12518,
"hgvs_c": "c.803C>G",
"hgvs_p": "p.Ala268Gly",
"transcript": "NM_003355.3",
"protein_id": "NP_003346.2",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 309,
"cds_start": 803,
"cds_end": null,
"cds_length": 930,
"cdna_start": 1182,
"cdna_end": null,
"cdna_length": 1644,
"mane_select": "ENST00000663595.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UCP2",
"gene_hgnc_id": 12518,
"hgvs_c": "c.803C>G",
"hgvs_p": "p.Ala268Gly",
"transcript": "ENST00000663595.2",
"protein_id": "ENSP00000499695.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 309,
"cds_start": 803,
"cds_end": null,
"cds_length": 930,
"cdna_start": 1182,
"cdna_end": null,
"cdna_length": 1644,
"mane_select": "NM_003355.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UCP2",
"gene_hgnc_id": 12518,
"hgvs_c": "c.803C>G",
"hgvs_p": "p.Ala268Gly",
"transcript": "ENST00000310473.10",
"protein_id": "ENSP00000312029.3",
"transcript_support_level": 1,
"aa_start": 268,
"aa_end": null,
"aa_length": 309,
"cds_start": 803,
"cds_end": null,
"cds_length": 930,
"cdna_start": 1220,
"cdna_end": null,
"cdna_length": 2293,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UCP2",
"gene_hgnc_id": 12518,
"hgvs_c": "c.803C>G",
"hgvs_p": "p.Ala268Gly",
"transcript": "NM_001381943.1",
"protein_id": "NP_001368872.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 309,
"cds_start": 803,
"cds_end": null,
"cds_length": 930,
"cdna_start": 1440,
"cdna_end": null,
"cdna_length": 1902,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UCP2",
"gene_hgnc_id": 12518,
"hgvs_c": "c.803C>G",
"hgvs_p": "p.Ala268Gly",
"transcript": "NM_001381944.1",
"protein_id": "NP_001368873.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 309,
"cds_start": 803,
"cds_end": null,
"cds_length": 930,
"cdna_start": 1088,
"cdna_end": null,
"cdna_length": 1550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UCP2",
"gene_hgnc_id": 12518,
"hgvs_c": "c.803C>G",
"hgvs_p": "p.Ala268Gly",
"transcript": "NM_001381945.1",
"protein_id": "NP_001368874.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 309,
"cds_start": 803,
"cds_end": null,
"cds_length": 930,
"cdna_start": 1220,
"cdna_end": null,
"cdna_length": 1682,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UCP2",
"gene_hgnc_id": 12518,
"hgvs_c": "c.803C>G",
"hgvs_p": "p.Ala268Gly",
"transcript": "NM_001381947.1",
"protein_id": "NP_001368876.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 309,
"cds_start": 803,
"cds_end": null,
"cds_length": 930,
"cdna_start": 1299,
"cdna_end": null,
"cdna_length": 1761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UCP2",
"gene_hgnc_id": 12518,
"hgvs_c": "c.803C>G",
"hgvs_p": "p.Ala268Gly",
"transcript": "NM_001381948.1",
"protein_id": "NP_001368877.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 309,
"cds_start": 803,
"cds_end": null,
"cds_length": 930,
"cdna_start": 1139,
"cdna_end": null,
"cdna_length": 1601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UCP2",
"gene_hgnc_id": 12518,
"hgvs_c": "c.701C>G",
"hgvs_p": "p.Ala234Gly",
"transcript": "NM_001381949.1",
"protein_id": "NP_001368878.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 275,
"cds_start": 701,
"cds_end": null,
"cds_length": 828,
"cdna_start": 1080,
"cdna_end": null,
"cdna_length": 1542,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UCP2",
"gene_hgnc_id": 12518,
"hgvs_c": "c.608C>G",
"hgvs_p": "p.Ala203Gly",
"transcript": "NM_001381950.1",
"protein_id": "NP_001368879.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 244,
"cds_start": 608,
"cds_end": null,
"cds_length": 735,
"cdna_start": 987,
"cdna_end": null,
"cdna_length": 1449,
"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": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UCP2",
"gene_hgnc_id": 12518,
"hgvs_c": "n.722C>G",
"hgvs_p": null,
"transcript": "ENST00000544615.5",
"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": 1004,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "UCP2",
"gene_hgnc_id": 12518,
"hgvs_c": "c.635-382C>G",
"hgvs_p": null,
"transcript": "ENST00000536983.5",
"protein_id": "ENSP00000441147.1",
"transcript_support_level": 5,
"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": 1413,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UCP2",
"gene_hgnc_id": 12518,
"hgvs_c": "c.*27C>G",
"hgvs_p": null,
"transcript": "ENST00000545212.1",
"protein_id": "ENSP00000439706.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 128,
"cds_start": -4,
"cds_end": null,
"cds_length": 389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 389,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "UCP2",
"gene_hgnc_id": 12518,
"dbsnp": "rs45490393",
"frequency_reference_population": 0.0005798822,
"hom_count_reference_population": 3,
"allele_count_reference_population": 934,
"gnomad_exomes_af": 0.000395641,
"gnomad_genomes_af": 0.00234437,
"gnomad_exomes_ac": 577,
"gnomad_genomes_ac": 357,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.010870605707168579,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.402,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2386,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.28,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.695,
"phylop100way_prediction": "Pathogenic",
"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": -16,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS2",
"acmg_by_gene": [
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_003355.3",
"gene_symbol": "UCP2",
"hgnc_id": 12518,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.803C>G",
"hgvs_p": "p.Ala268Gly"
}
],
"clinvar_disease": "BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 4,not provided,not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:4",
"phenotype_combined": "not provided|not specified|BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 4",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}