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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: 17-81547029-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=81547029&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 81547029,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_025161.6",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAAP100",
"gene_hgnc_id": 26171,
"hgvs_c": "c.2053G>C",
"hgvs_p": "p.Glu685Gln",
"transcript": "NM_025161.6",
"protein_id": "NP_079437.5",
"transcript_support_level": null,
"aa_start": 685,
"aa_end": null,
"aa_length": 881,
"cds_start": 2053,
"cds_end": null,
"cds_length": 2646,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000327787.13",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_025161.6"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAAP100",
"gene_hgnc_id": 26171,
"hgvs_c": "c.2053G>C",
"hgvs_p": "p.Glu685Gln",
"transcript": "ENST00000327787.13",
"protein_id": "ENSP00000333283.8",
"transcript_support_level": 1,
"aa_start": 685,
"aa_end": null,
"aa_length": 881,
"cds_start": 2053,
"cds_end": null,
"cds_length": 2646,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_025161.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000327787.13"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAAP100",
"gene_hgnc_id": 26171,
"hgvs_c": "c.1000G>C",
"hgvs_p": "p.Glu334Gln",
"transcript": "ENST00000425898.2",
"protein_id": "ENSP00000399674.2",
"transcript_support_level": 1,
"aa_start": 334,
"aa_end": null,
"aa_length": 530,
"cds_start": 1000,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000425898.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAAP100",
"gene_hgnc_id": 26171,
"hgvs_c": "n.*1955G>C",
"hgvs_p": null,
"transcript": "ENST00000443656.6",
"protein_id": "ENSP00000395348.2",
"transcript_support_level": 1,
"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": "ENST00000443656.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAAP100",
"gene_hgnc_id": 26171,
"hgvs_c": "n.*1955G>C",
"hgvs_p": null,
"transcript": "ENST00000443656.6",
"protein_id": "ENSP00000395348.2",
"transcript_support_level": 1,
"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": "ENST00000443656.6"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAAP100",
"gene_hgnc_id": 26171,
"hgvs_c": "c.1924G>C",
"hgvs_p": "p.Glu642Gln",
"transcript": "ENST00000959821.1",
"protein_id": "ENSP00000629880.1",
"transcript_support_level": null,
"aa_start": 642,
"aa_end": null,
"aa_length": 838,
"cds_start": 1924,
"cds_end": null,
"cds_length": 2517,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959821.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAAP100",
"gene_hgnc_id": 26171,
"hgvs_c": "c.1900G>C",
"hgvs_p": "p.Glu634Gln",
"transcript": "ENST00000899632.1",
"protein_id": "ENSP00000569691.1",
"transcript_support_level": null,
"aa_start": 634,
"aa_end": null,
"aa_length": 830,
"cds_start": 1900,
"cds_end": null,
"cds_length": 2493,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899632.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAAP100",
"gene_hgnc_id": 26171,
"hgvs_c": "c.2053G>C",
"hgvs_p": "p.Glu685Gln",
"transcript": "XM_047436847.1",
"protein_id": "XP_047292803.1",
"transcript_support_level": null,
"aa_start": 685,
"aa_end": null,
"aa_length": 736,
"cds_start": 2053,
"cds_end": null,
"cds_length": 2211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436847.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAAP100",
"gene_hgnc_id": 26171,
"hgvs_c": "c.1600G>C",
"hgvs_p": "p.Glu534Gln",
"transcript": "XM_047436848.1",
"protein_id": "XP_047292804.1",
"transcript_support_level": null,
"aa_start": 534,
"aa_end": null,
"aa_length": 730,
"cds_start": 1600,
"cds_end": null,
"cds_length": 2193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436848.1"
},
{
"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": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "FAAP100",
"gene_hgnc_id": 26171,
"hgvs_c": "c.1759+294G>C",
"hgvs_p": null,
"transcript": "ENST00000899631.1",
"protein_id": "ENSP00000569690.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 743,
"cds_start": null,
"cds_end": null,
"cds_length": 2232,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899631.1"
},
{
"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": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "FAAP100",
"gene_hgnc_id": 26171,
"hgvs_c": "c.1606+294G>C",
"hgvs_p": null,
"transcript": "ENST00000959822.1",
"protein_id": "ENSP00000629881.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 692,
"cds_start": null,
"cds_end": null,
"cds_length": 2079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959822.1"
},
{
"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": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "FAAP100",
"gene_hgnc_id": 26171,
"hgvs_c": "c.1759+294G>C",
"hgvs_p": null,
"transcript": "XM_006722111.3",
"protein_id": "XP_006722174.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 743,
"cds_start": null,
"cds_end": null,
"cds_length": 2232,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006722111.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAAP100",
"gene_hgnc_id": 26171,
"hgvs_c": "n.175G>C",
"hgvs_p": null,
"transcript": "ENST00000545865.1",
"protein_id": "ENSP00000459776.1",
"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": "ENST00000545865.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAAP100",
"gene_hgnc_id": 26171,
"hgvs_c": "n.2272G>C",
"hgvs_p": null,
"transcript": "NR_033338.2",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "NR_033338.2"
}
],
"gene_symbol": "FAAP100",
"gene_hgnc_id": 26171,
"dbsnp": "rs769854359",
"frequency_reference_population": 0.0000012885868,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 7.1429e-7,
"gnomad_genomes_af": 0.00000657479,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.04339057207107544,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.009,
"revel_prediction": "Benign",
"alphamissense_score": 0.0789,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.67,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.089,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.06,
"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": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_025161.6",
"gene_symbol": "FAAP100",
"hgnc_id": 26171,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2053G>C",
"hgvs_p": "p.Glu685Gln"
}
],
"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
}