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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: 16-30666979-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=30666979&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 30666979,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001105079.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBRS",
"gene_hgnc_id": 20442,
"hgvs_c": "c.1864G>A",
"hgvs_p": "p.Glu622Lys",
"transcript": "NM_001105079.3",
"protein_id": "NP_001098549.2",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 980,
"cds_start": 1864,
"cds_end": null,
"cds_length": 2943,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000356166.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001105079.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBRS",
"gene_hgnc_id": 20442,
"hgvs_c": "c.1864G>A",
"hgvs_p": "p.Glu622Lys",
"transcript": "ENST00000356166.11",
"protein_id": "ENSP00000348489.5",
"transcript_support_level": 5,
"aa_start": 622,
"aa_end": null,
"aa_length": 980,
"cds_start": 1864,
"cds_end": null,
"cds_length": 2943,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001105079.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356166.11"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBRS",
"gene_hgnc_id": 20442,
"hgvs_c": "c.304G>A",
"hgvs_p": "p.Glu102Lys",
"transcript": "ENST00000287468.5",
"protein_id": "ENSP00000287468.5",
"transcript_support_level": 5,
"aa_start": 102,
"aa_end": null,
"aa_length": 460,
"cds_start": 304,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000287468.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBRS",
"gene_hgnc_id": 20442,
"hgvs_c": "c.1834G>A",
"hgvs_p": "p.Glu612Lys",
"transcript": "XM_011545916.3",
"protein_id": "XP_011544218.1",
"transcript_support_level": null,
"aa_start": 612,
"aa_end": null,
"aa_length": 970,
"cds_start": 1834,
"cds_end": null,
"cds_length": 2913,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011545916.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBRS",
"gene_hgnc_id": 20442,
"hgvs_c": "c.1834G>A",
"hgvs_p": "p.Glu612Lys",
"transcript": "XM_011545917.3",
"protein_id": "XP_011544219.1",
"transcript_support_level": null,
"aa_start": 612,
"aa_end": null,
"aa_length": 970,
"cds_start": 1834,
"cds_end": null,
"cds_length": 2913,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011545917.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBRS",
"gene_hgnc_id": 20442,
"hgvs_c": "c.1828G>A",
"hgvs_p": "p.Glu610Lys",
"transcript": "XM_047434483.1",
"protein_id": "XP_047290439.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 968,
"cds_start": 1828,
"cds_end": null,
"cds_length": 2907,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434483.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBRS",
"gene_hgnc_id": 20442,
"hgvs_c": "c.1798G>A",
"hgvs_p": "p.Glu600Lys",
"transcript": "XM_011545919.3",
"protein_id": "XP_011544221.1",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
"aa_length": 958,
"cds_start": 1798,
"cds_end": null,
"cds_length": 2877,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011545919.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBRS",
"gene_hgnc_id": 20442,
"hgvs_c": "n.*15G>A",
"hgvs_p": null,
"transcript": "ENST00000543786.5",
"protein_id": "ENSP00000456204.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000543786.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBRS",
"gene_hgnc_id": 20442,
"hgvs_c": "n.628G>A",
"hgvs_p": null,
"transcript": "ENST00000570170.1",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000570170.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBRS",
"gene_hgnc_id": 20442,
"hgvs_c": "n.*15G>A",
"hgvs_p": null,
"transcript": "ENST00000543786.5",
"protein_id": "ENSP00000456204.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000543786.5"
}
],
"gene_symbol": "FBRS",
"gene_hgnc_id": 20442,
"dbsnp": "rs770264327",
"frequency_reference_population": 0.000047819136,
"hom_count_reference_population": 0,
"allele_count_reference_population": 77,
"gnomad_exomes_af": 0.0000486952,
"gnomad_genomes_af": 0.000039426,
"gnomad_exomes_ac": 71,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.09611356258392334,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.167,
"revel_prediction": "Benign",
"alphamissense_score": 0.8801,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.18,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.085,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP2,BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 6,
"pathogenic_score": 1,
"criteria": [
"PP2",
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001105079.3",
"gene_symbol": "FBRS",
"hgnc_id": 20442,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1864G>A",
"hgvs_p": "p.Glu622Lys"
}
],
"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
}