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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: 14-20801679-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=20801679&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 20801679,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000397967.5",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASE1",
"gene_hgnc_id": 10044,
"hgvs_c": "c.390G>A",
"hgvs_p": "p.Lys130Lys",
"transcript": "NM_002933.5",
"protein_id": "NP_002924.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 156,
"cds_start": 390,
"cds_end": null,
"cds_length": 471,
"cdna_start": 463,
"cdna_end": null,
"cdna_length": 914,
"mane_select": "ENST00000397967.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASE1",
"gene_hgnc_id": 10044,
"hgvs_c": "c.390G>A",
"hgvs_p": "p.Lys130Lys",
"transcript": "ENST00000397967.5",
"protein_id": "ENSP00000381057.4",
"transcript_support_level": 1,
"aa_start": 130,
"aa_end": null,
"aa_length": 156,
"cds_start": 390,
"cds_end": null,
"cds_length": 471,
"cdna_start": 463,
"cdna_end": null,
"cdna_length": 914,
"mane_select": "NM_002933.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASE1",
"gene_hgnc_id": 10044,
"hgvs_c": "c.390G>A",
"hgvs_p": "p.Lys130Lys",
"transcript": "ENST00000397970.4",
"protein_id": "ENSP00000381060.4",
"transcript_support_level": 1,
"aa_start": 130,
"aa_end": null,
"aa_length": 156,
"cds_start": 390,
"cds_end": null,
"cds_length": 471,
"cdna_start": 550,
"cdna_end": null,
"cdna_length": 769,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASE1",
"gene_hgnc_id": 10044,
"hgvs_c": "c.390G>A",
"hgvs_p": "p.Lys130Lys",
"transcript": "NM_198232.3",
"protein_id": "NP_937875.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 156,
"cds_start": 390,
"cds_end": null,
"cds_length": 471,
"cdna_start": 531,
"cdna_end": null,
"cdna_length": 982,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASE1",
"gene_hgnc_id": 10044,
"hgvs_c": "c.390G>A",
"hgvs_p": "p.Lys130Lys",
"transcript": "NM_198234.3",
"protein_id": "NP_937877.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 156,
"cds_start": 390,
"cds_end": null,
"cds_length": 471,
"cdna_start": 534,
"cdna_end": null,
"cdna_length": 985,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASE1",
"gene_hgnc_id": 10044,
"hgvs_c": "c.390G>A",
"hgvs_p": "p.Lys130Lys",
"transcript": "NM_198235.3",
"protein_id": "NP_937878.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 156,
"cds_start": 390,
"cds_end": null,
"cds_length": 471,
"cdna_start": 546,
"cdna_end": null,
"cdna_length": 997,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASE1",
"gene_hgnc_id": 10044,
"hgvs_c": "c.390G>A",
"hgvs_p": "p.Lys130Lys",
"transcript": "ENST00000340900.3",
"protein_id": "ENSP00000344193.3",
"transcript_support_level": 2,
"aa_start": 130,
"aa_end": null,
"aa_length": 156,
"cds_start": 390,
"cds_end": null,
"cds_length": 471,
"cdna_start": 545,
"cdna_end": null,
"cdna_length": 878,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASE1",
"gene_hgnc_id": 10044,
"hgvs_c": "c.390G>A",
"hgvs_p": "p.Lys130Lys",
"transcript": "ENST00000412779.2",
"protein_id": "ENSP00000399493.2",
"transcript_support_level": 2,
"aa_start": 130,
"aa_end": null,
"aa_length": 156,
"cds_start": 390,
"cds_end": null,
"cds_length": 471,
"cdna_start": 573,
"cdna_end": null,
"cdna_length": 896,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASE1",
"gene_hgnc_id": 10044,
"hgvs_c": "c.270G>A",
"hgvs_p": "p.Lys90Lys",
"transcript": "ENST00000555698.5",
"protein_id": "ENSP00000451058.1",
"transcript_support_level": 3,
"aa_start": 90,
"aa_end": null,
"aa_length": 116,
"cds_start": 270,
"cds_end": null,
"cds_length": 351,
"cdna_start": 370,
"cdna_end": null,
"cdna_length": 655,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000303743",
"gene_hgnc_id": null,
"hgvs_c": "n.273-8160C>T",
"hgvs_p": null,
"transcript": "ENST00000796878.1",
"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": 514,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "LOC105370397",
"gene_hgnc_id": null,
"hgvs_c": "n.277-8160C>T",
"hgvs_p": null,
"transcript": "XR_007064063.1",
"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": 339,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RNASE1",
"gene_hgnc_id": 10044,
"dbsnp": "rs11545379",
"frequency_reference_population": 0.000006572116,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000657212,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6299999952316284,
"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": -0.63,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -5.726,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000397967.5",
"gene_symbol": "RNASE1",
"hgnc_id": 10044,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.390G>A",
"hgvs_p": "p.Lys130Lys"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000796878.1",
"gene_symbol": "ENSG00000303743",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.273-8160C>T",
"hgvs_p": null
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "XR_007064063.1",
"gene_symbol": "LOC105370397",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.277-8160C>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}