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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: 17-16948893-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=16948893&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 16948893,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000261652.7",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "R",
"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": "TNFRSF13B",
"gene_hgnc_id": 18153,
"hgvs_c": "c.290C>G",
"hgvs_p": "p.Pro97Arg",
"transcript": "NM_012452.3",
"protein_id": "NP_036584.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 293,
"cds_start": 290,
"cds_end": null,
"cds_length": 882,
"cdna_start": 333,
"cdna_end": null,
"cdna_length": 1391,
"mane_select": "ENST00000261652.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": true,
"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": "TNFRSF13B",
"gene_hgnc_id": 18153,
"hgvs_c": "c.290C>G",
"hgvs_p": "p.Pro97Arg",
"transcript": "ENST00000261652.7",
"protein_id": "ENSP00000261652.2",
"transcript_support_level": 1,
"aa_start": 97,
"aa_end": null,
"aa_length": 293,
"cds_start": 290,
"cds_end": null,
"cds_length": 882,
"cdna_start": 333,
"cdna_end": null,
"cdna_length": 1391,
"mane_select": "NM_012452.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFRSF13B",
"gene_hgnc_id": 18153,
"hgvs_c": "c.152C>G",
"hgvs_p": "p.Pro51Arg",
"transcript": "ENST00000583789.1",
"protein_id": "ENSP00000462952.1",
"transcript_support_level": 1,
"aa_start": 51,
"aa_end": null,
"aa_length": 247,
"cds_start": 152,
"cds_end": null,
"cds_length": 744,
"cdna_start": 164,
"cdna_end": null,
"cdna_length": 859,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFRSF13B",
"gene_hgnc_id": 18153,
"hgvs_c": "c.290C>G",
"hgvs_p": "p.Pro97Arg",
"transcript": "ENST00000579315.5",
"protein_id": "ENSP00000464069.1",
"transcript_support_level": 3,
"aa_start": 97,
"aa_end": null,
"aa_length": 156,
"cds_start": 290,
"cds_end": null,
"cds_length": 471,
"cdna_start": 333,
"cdna_end": null,
"cdna_length": 600,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFRSF13B",
"gene_hgnc_id": 18153,
"hgvs_c": "n.293C>G",
"hgvs_p": null,
"transcript": "ENST00000581616.2",
"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": 1420,
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFRSF13B",
"gene_hgnc_id": 18153,
"hgvs_c": "n.194C>G",
"hgvs_p": null,
"transcript": "ENST00000582931.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 554,
"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": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFRSF13B",
"gene_hgnc_id": 18153,
"hgvs_c": "n.152C>G",
"hgvs_p": null,
"transcript": "ENST00000584950.5",
"protein_id": "ENSP00000463582.1",
"transcript_support_level": 5,
"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": 1266,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TNFRSF13B",
"gene_hgnc_id": 18153,
"dbsnp": "rs754139414",
"frequency_reference_population": 0.000040271167,
"hom_count_reference_population": 0,
"allele_count_reference_population": 65,
"gnomad_exomes_af": 0.0000430953,
"gnomad_genomes_af": 0.0000131423,
"gnomad_exomes_ac": 63,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8686661720275879,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.757,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.7659,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.46,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 4.476,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"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": "Uncertain_significance",
"acmg_criteria": "PM1,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM1",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000261652.7",
"gene_symbol": "TNFRSF13B",
"hgnc_id": 18153,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.290C>G",
"hgvs_p": "p.Pro97Arg"
}
],
"clinvar_disease": " 2, common variable,Immunodeficiency,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "Immunodeficiency, common variable, 2|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}