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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: 16-87936316-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=87936316&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 87936316,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000649794.3",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA5A",
"gene_hgnc_id": 1377,
"hgvs_c": "c.135T>A",
"hgvs_p": "p.Asn45Lys",
"transcript": "NM_001739.2",
"protein_id": "NP_001730.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 305,
"cds_start": 135,
"cds_end": null,
"cds_length": 918,
"cdna_start": 214,
"cdna_end": null,
"cdna_length": 1113,
"mane_select": "ENST00000649794.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA5A",
"gene_hgnc_id": 1377,
"hgvs_c": "c.135T>A",
"hgvs_p": "p.Asn45Lys",
"transcript": "ENST00000649794.3",
"protein_id": "ENSP00000498065.2",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 305,
"cds_start": 135,
"cds_end": null,
"cds_length": 918,
"cdna_start": 214,
"cdna_end": null,
"cdna_length": 1113,
"mane_select": "NM_001739.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA5A",
"gene_hgnc_id": 1377,
"hgvs_c": "c.135T>A",
"hgvs_p": "p.Asn45Lys",
"transcript": "NM_001367225.1",
"protein_id": "NP_001354154.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 300,
"cds_start": 135,
"cds_end": null,
"cds_length": 903,
"cdna_start": 214,
"cdna_end": null,
"cdna_length": 1244,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA5A",
"gene_hgnc_id": 1377,
"hgvs_c": "c.135T>A",
"hgvs_p": "p.Asn45Lys",
"transcript": "ENST00000649158.1",
"protein_id": "ENSP00000496993.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 300,
"cds_start": 135,
"cds_end": null,
"cds_length": 903,
"cdna_start": 265,
"cdna_end": null,
"cdna_length": 1298,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"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": "CA5A",
"gene_hgnc_id": 1377,
"hgvs_c": "c.135T>A",
"hgvs_p": "p.Asn45Lys",
"transcript": "ENST00000648177.1",
"protein_id": "ENSP00000497626.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 191,
"cds_start": 135,
"cds_end": null,
"cds_length": 576,
"cdna_start": 265,
"cdna_end": null,
"cdna_length": 1113,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA5A",
"gene_hgnc_id": 1377,
"hgvs_c": "c.135T>A",
"hgvs_p": "p.Asn45Lys",
"transcript": "XM_005256134.5",
"protein_id": "XP_005256191.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 253,
"cds_start": 135,
"cds_end": null,
"cds_length": 762,
"cdna_start": 214,
"cdna_end": null,
"cdna_length": 1043,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"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": "CA5A",
"gene_hgnc_id": 1377,
"hgvs_c": "c.135T>A",
"hgvs_p": "p.Asn45Lys",
"transcript": "XM_047434594.1",
"protein_id": "XP_047290550.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 165,
"cds_start": 135,
"cds_end": null,
"cds_length": 498,
"cdna_start": 214,
"cdna_end": null,
"cdna_length": 1166,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA5A",
"gene_hgnc_id": 1377,
"hgvs_c": "c.135T>A",
"hgvs_p": "p.Asn45Lys",
"transcript": "XM_047434595.1",
"protein_id": "XP_047290551.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 159,
"cds_start": 135,
"cds_end": null,
"cds_length": 480,
"cdna_start": 214,
"cdna_end": null,
"cdna_length": 575,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA5A",
"gene_hgnc_id": 1377,
"hgvs_c": "n.214T>A",
"hgvs_p": null,
"transcript": "ENST00000568801.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 506,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA5A",
"gene_hgnc_id": 1377,
"hgvs_c": "n.135T>A",
"hgvs_p": null,
"transcript": "ENST00000648022.1",
"protein_id": "ENSP00000497934.1",
"transcript_support_level": null,
"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": 1248,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA5A",
"gene_hgnc_id": 1377,
"hgvs_c": "n.214T>A",
"hgvs_p": null,
"transcript": "NR_159798.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1221,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA5A",
"gene_hgnc_id": 1377,
"hgvs_c": "n.214T>A",
"hgvs_p": null,
"transcript": "NR_159799.1",
"protein_id": null,
"transcript_support_level": null,
"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": 994,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CA5A",
"gene_hgnc_id": 1377,
"dbsnp": "rs77325391",
"frequency_reference_population": 0.0041971565,
"hom_count_reference_population": 216,
"allele_count_reference_population": 6767,
"gnomad_exomes_af": 0.00231126,
"gnomad_genomes_af": 0.0223102,
"gnomad_exomes_ac": 3375,
"gnomad_genomes_ac": 3392,
"gnomad_exomes_homalt": 104,
"gnomad_genomes_homalt": 112,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.002191513776779175,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.257,
"revel_prediction": "Benign",
"alphamissense_score": 0.108,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.68,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.933,
"phylop100way_prediction": "Benign",
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000649794.3",
"gene_symbol": "CA5A",
"hgnc_id": 1377,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.135T>A",
"hgvs_p": "p.Asn45Lys"
}
],
"clinvar_disease": "Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"phenotype_combined": "not specified|Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}