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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: 6-47253351-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=47253351&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 47253351,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_014452.5",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFRSF21",
"gene_hgnc_id": 13469,
"hgvs_c": "c.1414G>A",
"hgvs_p": "p.Glu472Lys",
"transcript": "NM_014452.5",
"protein_id": "NP_055267.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 655,
"cds_start": 1414,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000296861.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014452.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFRSF21",
"gene_hgnc_id": 13469,
"hgvs_c": "c.1414G>A",
"hgvs_p": "p.Glu472Lys",
"transcript": "ENST00000296861.2",
"protein_id": "ENSP00000296861.2",
"transcript_support_level": 1,
"aa_start": 472,
"aa_end": null,
"aa_length": 655,
"cds_start": 1414,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014452.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000296861.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFRSF21",
"gene_hgnc_id": 13469,
"hgvs_c": "c.1492G>A",
"hgvs_p": "p.Glu498Lys",
"transcript": "ENST00000877798.1",
"protein_id": "ENSP00000547857.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 681,
"cds_start": 1492,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877798.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFRSF21",
"gene_hgnc_id": 13469,
"hgvs_c": "c.1414G>A",
"hgvs_p": "p.Glu472Lys",
"transcript": "ENST00000952536.1",
"protein_id": "ENSP00000622595.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 615,
"cds_start": 1414,
"cds_end": null,
"cds_length": 1848,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952536.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFRSF21",
"gene_hgnc_id": 13469,
"hgvs_c": "c.919G>A",
"hgvs_p": "p.Glu307Lys",
"transcript": "ENST00000952535.1",
"protein_id": "ENSP00000622594.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 490,
"cds_start": 919,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952535.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TNFRSF21",
"gene_hgnc_id": 13469,
"hgvs_c": "c.97-18453G>A",
"hgvs_p": null,
"transcript": "ENST00000911387.1",
"protein_id": "ENSP00000581446.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 184,
"cds_start": null,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911387.1"
}
],
"gene_symbol": "TNFRSF21",
"gene_hgnc_id": 13469,
"dbsnp": "rs781439087",
"frequency_reference_population": 0.000016110103,
"hom_count_reference_population": 0,
"allele_count_reference_population": 26,
"gnomad_exomes_af": 0.0000164191,
"gnomad_genomes_af": 0.0000131425,
"gnomad_exomes_ac": 24,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.40224695205688477,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.453,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3442,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.501,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_014452.5",
"gene_symbol": "TNFRSF21",
"hgnc_id": 13469,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1414G>A",
"hgvs_p": "p.Glu472Lys"
}
],
"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
}