← Back to variant description
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: 16-11676161-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=11676161&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 11676161,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_003498.6",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNN",
"gene_hgnc_id": 11149,
"hgvs_c": "c.102C>T",
"hgvs_p": "p.Cys34Cys",
"transcript": "NM_003498.6",
"protein_id": "NP_003489.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 88,
"cds_start": 102,
"cds_end": null,
"cds_length": 267,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000329565.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003498.6"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNN",
"gene_hgnc_id": 11149,
"hgvs_c": "c.102C>T",
"hgvs_p": "p.Cys34Cys",
"transcript": "ENST00000329565.6",
"protein_id": "ENSP00000329287.5",
"transcript_support_level": 1,
"aa_start": 34,
"aa_end": null,
"aa_length": 88,
"cds_start": 102,
"cds_end": null,
"cds_length": 267,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003498.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000329565.6"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNN",
"gene_hgnc_id": 11149,
"hgvs_c": "c.102C>T",
"hgvs_p": "p.Cys34Cys",
"transcript": "ENST00000907333.1",
"protein_id": "ENSP00000577392.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 88,
"cds_start": 102,
"cds_end": null,
"cds_length": 267,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907333.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNN",
"gene_hgnc_id": 11149,
"hgvs_c": "c.102C>T",
"hgvs_p": "p.Cys34Cys",
"transcript": "ENST00000907334.1",
"protein_id": "ENSP00000577393.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 88,
"cds_start": 102,
"cds_end": null,
"cds_length": 267,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907334.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNN",
"gene_hgnc_id": 11149,
"hgvs_c": "c.102C>T",
"hgvs_p": "p.Cys34Cys",
"transcript": "ENST00000907335.1",
"protein_id": "ENSP00000577394.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 88,
"cds_start": 102,
"cds_end": null,
"cds_length": 267,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907335.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNN",
"gene_hgnc_id": 11149,
"hgvs_c": "c.102C>T",
"hgvs_p": "p.Cys34Cys",
"transcript": "ENST00000907336.1",
"protein_id": "ENSP00000577395.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 88,
"cds_start": 102,
"cds_end": null,
"cds_length": 267,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907336.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNN",
"gene_hgnc_id": 11149,
"hgvs_c": "c.102C>T",
"hgvs_p": "p.Cys34Cys",
"transcript": "ENST00000907337.1",
"protein_id": "ENSP00000577396.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 88,
"cds_start": 102,
"cds_end": null,
"cds_length": 267,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907337.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNN",
"gene_hgnc_id": 11149,
"hgvs_c": "c.102C>T",
"hgvs_p": "p.Cys34Cys",
"transcript": "ENST00000924278.1",
"protein_id": "ENSP00000594337.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 88,
"cds_start": 102,
"cds_end": null,
"cds_length": 267,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924278.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNN",
"gene_hgnc_id": 11149,
"hgvs_c": "c.102C>T",
"hgvs_p": "p.Cys34Cys",
"transcript": "ENST00000924279.1",
"protein_id": "ENSP00000594338.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 88,
"cds_start": 102,
"cds_end": null,
"cds_length": 267,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924279.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNN",
"gene_hgnc_id": 11149,
"hgvs_c": "c.102C>T",
"hgvs_p": "p.Cys34Cys",
"transcript": "ENST00000924280.1",
"protein_id": "ENSP00000594339.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 88,
"cds_start": 102,
"cds_end": null,
"cds_length": 267,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924280.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNN",
"gene_hgnc_id": 11149,
"hgvs_c": "c.102C>T",
"hgvs_p": "p.Cys34Cys",
"transcript": "ENST00000924281.1",
"protein_id": "ENSP00000594340.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 88,
"cds_start": 102,
"cds_end": null,
"cds_length": 267,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924281.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNN",
"gene_hgnc_id": 11149,
"hgvs_c": "c.102C>T",
"hgvs_p": "p.Cys34Cys",
"transcript": "ENST00000924282.1",
"protein_id": "ENSP00000594341.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 88,
"cds_start": 102,
"cds_end": null,
"cds_length": 267,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924282.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNN",
"gene_hgnc_id": 11149,
"hgvs_c": "c.102C>T",
"hgvs_p": "p.Cys34Cys",
"transcript": "ENST00000960815.1",
"protein_id": "ENSP00000630874.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 88,
"cds_start": 102,
"cds_end": null,
"cds_length": 267,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960815.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNN",
"gene_hgnc_id": 11149,
"hgvs_c": "c.102C>T",
"hgvs_p": "p.Cys34Cys",
"transcript": "ENST00000960816.1",
"protein_id": "ENSP00000630875.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 88,
"cds_start": 102,
"cds_end": null,
"cds_length": 267,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960816.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNN",
"gene_hgnc_id": 11149,
"hgvs_c": "c.102C>T",
"hgvs_p": "p.Cys34Cys",
"transcript": "ENST00000960817.1",
"protein_id": "ENSP00000630876.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 88,
"cds_start": 102,
"cds_end": null,
"cds_length": 267,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960817.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNN",
"gene_hgnc_id": 11149,
"hgvs_c": "c.102C>T",
"hgvs_p": "p.Cys34Cys",
"transcript": "ENST00000960818.1",
"protein_id": "ENSP00000630877.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 88,
"cds_start": 102,
"cds_end": null,
"cds_length": 267,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960818.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNN",
"gene_hgnc_id": 11149,
"hgvs_c": "c.102C>T",
"hgvs_p": "p.Cys34Cys",
"transcript": "ENST00000960819.1",
"protein_id": "ENSP00000630878.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 88,
"cds_start": 102,
"cds_end": null,
"cds_length": 267,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960819.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNN",
"gene_hgnc_id": 11149,
"hgvs_c": "c.240C>T",
"hgvs_p": "p.Cys80Cys",
"transcript": "XM_017023741.2",
"protein_id": "XP_016879230.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 134,
"cds_start": 240,
"cds_end": null,
"cds_length": 405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017023741.2"
}
],
"gene_symbol": "SNN",
"gene_hgnc_id": 11149,
"dbsnp": "rs1269498376",
"frequency_reference_population": 0.0000030976785,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000205215,
"gnomad_genomes_af": 0.0000131377,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5600000023841858,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.56,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.61,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6,BP7",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_003498.6",
"gene_symbol": "SNN",
"hgnc_id": 11149,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.102C>T",
"hgvs_p": "p.Cys34Cys"
}
],
"clinvar_disease": "EBV-positive nodal T- and NK-cell lymphoma",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "EBV-positive nodal T- and NK-cell lymphoma",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}