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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: 16-47083267-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=47083267&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 47083267,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000562435.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NETO2",
"gene_hgnc_id": 14644,
"hgvs_c": "c.1532G>C",
"hgvs_p": "p.Arg511Thr",
"transcript": "NM_018092.5",
"protein_id": "NP_060562.3",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 525,
"cds_start": 1532,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 1865,
"cdna_end": null,
"cdna_length": 7429,
"mane_select": "ENST00000562435.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NETO2",
"gene_hgnc_id": 14644,
"hgvs_c": "c.1532G>C",
"hgvs_p": "p.Arg511Thr",
"transcript": "ENST00000562435.6",
"protein_id": "ENSP00000455169.1",
"transcript_support_level": 1,
"aa_start": 511,
"aa_end": null,
"aa_length": 525,
"cds_start": 1532,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 1865,
"cdna_end": null,
"cdna_length": 7429,
"mane_select": "NM_018092.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NETO2",
"gene_hgnc_id": 14644,
"hgvs_c": "c.1511G>C",
"hgvs_p": "p.Arg504Thr",
"transcript": "NM_001201477.2",
"protein_id": "NP_001188406.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 518,
"cds_start": 1511,
"cds_end": null,
"cds_length": 1557,
"cdna_start": 1844,
"cdna_end": null,
"cdna_length": 7408,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NETO2",
"gene_hgnc_id": 14644,
"hgvs_c": "c.1511G>C",
"hgvs_p": "p.Arg504Thr",
"transcript": "ENST00000303155.9",
"protein_id": "ENSP00000306726.5",
"transcript_support_level": 5,
"aa_start": 504,
"aa_end": null,
"aa_length": 518,
"cds_start": 1511,
"cds_end": null,
"cds_length": 1557,
"cdna_start": 1608,
"cdna_end": null,
"cdna_length": 3241,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NETO2",
"gene_hgnc_id": 14644,
"hgvs_c": "c.1049G>C",
"hgvs_p": "p.Arg350Thr",
"transcript": "ENST00000562559.5",
"protein_id": "ENSP00000454213.1",
"transcript_support_level": 3,
"aa_start": 350,
"aa_end": null,
"aa_length": 364,
"cds_start": 1049,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 1050,
"cdna_end": null,
"cdna_length": 1327,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NETO2",
"gene_hgnc_id": 14644,
"hgvs_c": "c.638G>C",
"hgvs_p": "p.Arg213Thr",
"transcript": "ENST00000564667.1",
"protein_id": "ENSP00000457133.1",
"transcript_support_level": 4,
"aa_start": 213,
"aa_end": null,
"aa_length": 227,
"cds_start": 638,
"cds_end": null,
"cds_length": 684,
"cdna_start": 639,
"cdna_end": null,
"cdna_length": 799,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NETO2",
"gene_hgnc_id": 14644,
"hgvs_c": "c.1418G>C",
"hgvs_p": "p.Arg473Thr",
"transcript": "XM_006721289.2",
"protein_id": "XP_006721352.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 487,
"cds_start": 1418,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 1751,
"cdna_end": null,
"cdna_length": 7315,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NETO2",
"gene_hgnc_id": 14644,
"hgvs_c": "c.1397G>C",
"hgvs_p": "p.Arg466Thr",
"transcript": "XM_006721291.2",
"protein_id": "XP_006721354.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 480,
"cds_start": 1397,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 1730,
"cdna_end": null,
"cdna_length": 7294,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NETO2",
"gene_hgnc_id": 14644,
"hgvs_c": "c.1124G>C",
"hgvs_p": "p.Arg375Thr",
"transcript": "XM_017023740.2",
"protein_id": "XP_016879229.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 389,
"cds_start": 1124,
"cds_end": null,
"cds_length": 1170,
"cdna_start": 1664,
"cdna_end": null,
"cdna_length": 7228,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NETO2",
"gene_hgnc_id": 14644,
"dbsnp": "rs193920943",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.49762794375419617,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.255,
"revel_prediction": "Benign",
"alphamissense_score": 0.3626,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.17,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.088,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": "ENST00000562435.6",
"gene_symbol": "NETO2",
"hgnc_id": 14644,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1532G>C",
"hgvs_p": "p.Arg511Thr"
}
],
"clinvar_disease": "Prostate cancer",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Prostate cancer",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}