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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: 2-54138742-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=54138742&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 54138742,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001320586.2",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACYP2",
"gene_hgnc_id": 180,
"hgvs_c": "c.179A>G",
"hgvs_p": "p.Asn60Ser",
"transcript": "NM_138448.4",
"protein_id": "NP_612457.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 99,
"cds_start": 179,
"cds_end": null,
"cds_length": 300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000394666.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_138448.4"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACYP2",
"gene_hgnc_id": 180,
"hgvs_c": "c.179A>G",
"hgvs_p": "p.Asn60Ser",
"transcript": "ENST00000394666.9",
"protein_id": "ENSP00000378161.3",
"transcript_support_level": 1,
"aa_start": 60,
"aa_end": null,
"aa_length": 99,
"cds_start": 179,
"cds_end": null,
"cds_length": 300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_138448.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394666.9"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACYP2",
"gene_hgnc_id": 180,
"hgvs_c": "c.179A>G",
"hgvs_p": "p.Asn60Ser",
"transcript": "ENST00000406041.5",
"protein_id": "ENSP00000385674.2",
"transcript_support_level": 1,
"aa_start": 60,
"aa_end": null,
"aa_length": 69,
"cds_start": 179,
"cds_end": null,
"cds_length": 210,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000406041.5"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACYP2",
"gene_hgnc_id": 180,
"hgvs_c": "c.398A>G",
"hgvs_p": "p.Asn133Ser",
"transcript": "NM_001320586.2",
"protein_id": "NP_001307515.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 172,
"cds_start": 398,
"cds_end": null,
"cds_length": 519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320586.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACYP2",
"gene_hgnc_id": 180,
"hgvs_c": "c.398A>G",
"hgvs_p": "p.Asn133Ser",
"transcript": "ENST00000607452.6",
"protein_id": "ENSP00000475986.1",
"transcript_support_level": 2,
"aa_start": 133,
"aa_end": null,
"aa_length": 172,
"cds_start": 398,
"cds_end": null,
"cds_length": 519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000607452.6"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACYP2",
"gene_hgnc_id": 180,
"hgvs_c": "c.305A>G",
"hgvs_p": "p.Asn102Ser",
"transcript": "NM_001320587.2",
"protein_id": "NP_001307516.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 141,
"cds_start": 305,
"cds_end": null,
"cds_length": 426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320587.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACYP2",
"gene_hgnc_id": 180,
"hgvs_c": "c.131A>G",
"hgvs_p": "p.Asn44Ser",
"transcript": "ENST00000606865.1",
"protein_id": "ENSP00000475333.1",
"transcript_support_level": 5,
"aa_start": 44,
"aa_end": null,
"aa_length": 83,
"cds_start": 131,
"cds_end": null,
"cds_length": 252,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000606865.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACYP2",
"gene_hgnc_id": 180,
"hgvs_c": "c.107A>G",
"hgvs_p": "p.Asn36Ser",
"transcript": "NM_001320588.2",
"protein_id": "NP_001307517.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 75,
"cds_start": 107,
"cds_end": null,
"cds_length": 228,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320588.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACYP2",
"gene_hgnc_id": 180,
"hgvs_c": "c.179A>G",
"hgvs_p": "p.Asn60Ser",
"transcript": "NM_001320589.2",
"protein_id": "NP_001307518.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 70,
"cds_start": 179,
"cds_end": null,
"cds_length": 213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320589.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACYP2",
"gene_hgnc_id": 180,
"hgvs_c": "c.179A>G",
"hgvs_p": "p.Asn60Ser",
"transcript": "ENST00000303536.8",
"protein_id": "ENSP00000306448.5",
"transcript_support_level": 2,
"aa_start": 60,
"aa_end": null,
"aa_length": 70,
"cds_start": 179,
"cds_end": null,
"cds_length": 213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000303536.8"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACYP2",
"gene_hgnc_id": 180,
"hgvs_c": "c.179A>G",
"hgvs_p": "p.Asn60Ser",
"transcript": "NM_001320590.2",
"protein_id": "NP_001307519.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 69,
"cds_start": 179,
"cds_end": null,
"cds_length": 210,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320590.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACYP2",
"gene_hgnc_id": 180,
"hgvs_c": "n.170A>G",
"hgvs_p": null,
"transcript": "ENST00000494922.6",
"protein_id": "ENSP00000475312.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000494922.6"
}
],
"gene_symbol": "ACYP2",
"gene_hgnc_id": 180,
"dbsnp": null,
"frequency_reference_population": 0.0000027420135,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000274201,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.24353307485580444,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.222,
"revel_prediction": "Benign",
"alphamissense_score": 0.0833,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.41,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.987,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001320586.2",
"gene_symbol": "ACYP2",
"hgnc_id": 180,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.398A>G",
"hgvs_p": "p.Asn133Ser"
}
],
"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
}