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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: 1-52771406-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=52771406&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 52771406,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_024646.3",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZYG11B",
"gene_hgnc_id": 25820,
"hgvs_c": "c.583A>G",
"hgvs_p": "p.Asn195Asp",
"transcript": "NM_024646.3",
"protein_id": "NP_078922.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 744,
"cds_start": 583,
"cds_end": null,
"cds_length": 2235,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000294353.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024646.3"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZYG11B",
"gene_hgnc_id": 25820,
"hgvs_c": "c.583A>G",
"hgvs_p": "p.Asn195Asp",
"transcript": "ENST00000294353.7",
"protein_id": "ENSP00000294353.6",
"transcript_support_level": 1,
"aa_start": 195,
"aa_end": null,
"aa_length": 744,
"cds_start": 583,
"cds_end": null,
"cds_length": 2235,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024646.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000294353.7"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZYG11B",
"gene_hgnc_id": 25820,
"hgvs_c": "c.580A>G",
"hgvs_p": "p.Asn194Asp",
"transcript": "ENST00000884648.1",
"protein_id": "ENSP00000554707.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 743,
"cds_start": 580,
"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": "ENST00000884648.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZYG11B",
"gene_hgnc_id": 25820,
"hgvs_c": "c.571A>G",
"hgvs_p": "p.Asn191Asp",
"transcript": "NM_001441954.1",
"protein_id": "NP_001428883.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 740,
"cds_start": 571,
"cds_end": null,
"cds_length": 2223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441954.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZYG11B",
"gene_hgnc_id": 25820,
"hgvs_c": "c.583A>G",
"hgvs_p": "p.Asn195Asp",
"transcript": "ENST00000959293.1",
"protein_id": "ENSP00000629352.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 727,
"cds_start": 583,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959293.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZYG11B",
"gene_hgnc_id": 25820,
"hgvs_c": "c.517A>G",
"hgvs_p": "p.Asn173Asp",
"transcript": "ENST00000959291.1",
"protein_id": "ENSP00000629350.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 722,
"cds_start": 517,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959291.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZYG11B",
"gene_hgnc_id": 25820,
"hgvs_c": "c.583A>G",
"hgvs_p": "p.Asn195Asp",
"transcript": "ENST00000884649.1",
"protein_id": "ENSP00000554708.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 697,
"cds_start": 583,
"cds_end": null,
"cds_length": 2094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884649.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZYG11B",
"gene_hgnc_id": 25820,
"hgvs_c": "c.583A>G",
"hgvs_p": "p.Asn195Asp",
"transcript": "ENST00000884650.1",
"protein_id": "ENSP00000554709.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 674,
"cds_start": 583,
"cds_end": null,
"cds_length": 2025,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884650.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZYG11B",
"gene_hgnc_id": 25820,
"hgvs_c": "c.583A>G",
"hgvs_p": "p.Asn195Asp",
"transcript": "ENST00000545132.5",
"protein_id": "ENSP00000441315.1",
"transcript_support_level": 2,
"aa_start": 195,
"aa_end": null,
"aa_length": 566,
"cds_start": 583,
"cds_end": null,
"cds_length": 1701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000545132.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZYG11B",
"gene_hgnc_id": 25820,
"hgvs_c": "c.310-8447A>G",
"hgvs_p": null,
"transcript": "ENST00000959292.1",
"protein_id": "ENSP00000629351.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 530,
"cds_start": null,
"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": "ENST00000959292.1"
},
{
"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": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZYG11B",
"gene_hgnc_id": 25820,
"hgvs_c": "n.784A>G",
"hgvs_p": null,
"transcript": "NR_199864.1",
"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_199864.1"
}
],
"gene_symbol": "ZYG11B",
"gene_hgnc_id": 25820,
"dbsnp": "rs770057855",
"frequency_reference_population": 0.0000018587245,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000136816,
"gnomad_genomes_af": 0.00000657056,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6058197617530823,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.127,
"revel_prediction": "Benign",
"alphamissense_score": 0.5766,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.485,
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_024646.3",
"gene_symbol": "ZYG11B",
"hgnc_id": 25820,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.583A>G",
"hgvs_p": "p.Asn195Asp"
}
],
"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
}