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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: 8-58146655-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=58146655&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 58146655,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001377989.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM110B",
"gene_hgnc_id": 28587,
"hgvs_c": "c.425G>A",
"hgvs_p": "p.Arg142His",
"transcript": "NM_001377989.1",
"protein_id": "NP_001364918.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 370,
"cds_start": 425,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 1220,
"cdna_end": null,
"cdna_length": 3349,
"mane_select": "ENST00000519262.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM110B",
"gene_hgnc_id": 28587,
"hgvs_c": "c.425G>A",
"hgvs_p": "p.Arg142His",
"transcript": "ENST00000519262.6",
"protein_id": "ENSP00000509301.1",
"transcript_support_level": 2,
"aa_start": 142,
"aa_end": null,
"aa_length": 370,
"cds_start": 425,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 1220,
"cdna_end": null,
"cdna_length": 3349,
"mane_select": "NM_001377989.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM110B",
"gene_hgnc_id": 28587,
"hgvs_c": "c.425G>A",
"hgvs_p": "p.Arg142His",
"transcript": "NM_001377997.1",
"protein_id": "NP_001364926.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 370,
"cds_start": 425,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 1018,
"cdna_end": null,
"cdna_length": 3147,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM110B",
"gene_hgnc_id": 28587,
"hgvs_c": "c.425G>A",
"hgvs_p": "p.Arg142His",
"transcript": "NM_001377998.1",
"protein_id": "NP_001364927.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 370,
"cds_start": 425,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 993,
"cdna_end": null,
"cdna_length": 3122,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM110B",
"gene_hgnc_id": 28587,
"hgvs_c": "c.425G>A",
"hgvs_p": "p.Arg142His",
"transcript": "NM_147189.4",
"protein_id": "NP_671722.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 370,
"cds_start": 425,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 1336,
"cdna_end": null,
"cdna_length": 3465,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM110B",
"gene_hgnc_id": 28587,
"hgvs_c": "c.425G>A",
"hgvs_p": "p.Arg142His",
"transcript": "ENST00000361488.7",
"protein_id": "ENSP00000355204.3",
"transcript_support_level": 2,
"aa_start": 142,
"aa_end": null,
"aa_length": 370,
"cds_start": 425,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 1305,
"cdna_end": null,
"cdna_length": 3438,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM110B",
"gene_hgnc_id": 28587,
"hgvs_c": "c.425G>A",
"hgvs_p": "p.Arg142His",
"transcript": "XM_017013948.2",
"protein_id": "XP_016869437.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 370,
"cds_start": 425,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 1341,
"cdna_end": null,
"cdna_length": 3470,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM110B",
"gene_hgnc_id": 28587,
"hgvs_c": "c.425G>A",
"hgvs_p": "p.Arg142His",
"transcript": "XM_047422400.1",
"protein_id": "XP_047278356.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 370,
"cds_start": 425,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 1561,
"cdna_end": null,
"cdna_length": 3690,
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FAM110B",
"gene_hgnc_id": 28587,
"hgvs_c": "n.427-51176G>A",
"hgvs_p": null,
"transcript": "ENST00000520369.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 1518,
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FAM110B",
"gene_hgnc_id": 28587,
"hgvs_c": "n.226-42663G>A",
"hgvs_p": null,
"transcript": "ENST00000523486.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FAM110B",
"gene_hgnc_id": 28587,
"dbsnp": "rs138142337",
"frequency_reference_population": 0.00004340111,
"hom_count_reference_population": 0,
"allele_count_reference_population": 70,
"gnomad_exomes_af": 0.0000267017,
"gnomad_genomes_af": 0.000203572,
"gnomad_exomes_ac": 39,
"gnomad_genomes_ac": 31,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.08096206188201904,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.184,
"revel_prediction": "Benign",
"alphamissense_score": 0.1334,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.16,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.096,
"phylop100way_prediction": "Uncertain_significance",
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001377989.1",
"gene_symbol": "FAM110B",
"hgnc_id": 28587,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.425G>A",
"hgvs_p": "p.Arg142His"
}
],
"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
}