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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: 2-197400802-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=197400802&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 197400802,
"ref": "A",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_012433.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF3B1",
"gene_hgnc_id": 10768,
"hgvs_c": "c.2631T>A",
"hgvs_p": "p.Gly877Gly",
"transcript": "NM_012433.4",
"protein_id": "NP_036565.2",
"transcript_support_level": null,
"aa_start": 877,
"aa_end": null,
"aa_length": 1304,
"cds_start": 2631,
"cds_end": null,
"cds_length": 3915,
"cdna_start": 2660,
"cdna_end": null,
"cdna_length": 6463,
"mane_select": "ENST00000335508.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF3B1",
"gene_hgnc_id": 10768,
"hgvs_c": "c.2631T>A",
"hgvs_p": "p.Gly877Gly",
"transcript": "ENST00000335508.11",
"protein_id": "ENSP00000335321.6",
"transcript_support_level": 1,
"aa_start": 877,
"aa_end": null,
"aa_length": 1304,
"cds_start": 2631,
"cds_end": null,
"cds_length": 3915,
"cdna_start": 2660,
"cdna_end": null,
"cdna_length": 6463,
"mane_select": "NM_012433.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF3B1",
"gene_hgnc_id": 10768,
"hgvs_c": "c.2193T>A",
"hgvs_p": "p.Gly731Gly",
"transcript": "XM_047443838.1",
"protein_id": "XP_047299794.1",
"transcript_support_level": null,
"aa_start": 731,
"aa_end": null,
"aa_length": 1158,
"cds_start": 2193,
"cds_end": null,
"cds_length": 3477,
"cdna_start": 3925,
"cdna_end": null,
"cdna_length": 7728,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF3B1",
"gene_hgnc_id": 10768,
"hgvs_c": "c.2193T>A",
"hgvs_p": "p.Gly731Gly",
"transcript": "XM_047443839.1",
"protein_id": "XP_047299795.1",
"transcript_support_level": null,
"aa_start": 731,
"aa_end": null,
"aa_length": 1158,
"cds_start": 2193,
"cds_end": null,
"cds_length": 3477,
"cdna_start": 3641,
"cdna_end": null,
"cdna_length": 7444,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF3B1",
"gene_hgnc_id": 10768,
"hgvs_c": "c.2631T>A",
"hgvs_p": "p.Gly877Gly",
"transcript": "XM_047443840.1",
"protein_id": "XP_047299796.1",
"transcript_support_level": null,
"aa_start": 877,
"aa_end": null,
"aa_length": 1030,
"cds_start": 2631,
"cds_end": null,
"cds_length": 3093,
"cdna_start": 2725,
"cdna_end": null,
"cdna_length": 3248,
"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": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF3B1",
"gene_hgnc_id": 10768,
"hgvs_c": "n.4515T>A",
"hgvs_p": null,
"transcript": "ENST00000470268.2",
"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": 8308,
"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": 18,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF3B1",
"gene_hgnc_id": 10768,
"hgvs_c": "n.*3698T>A",
"hgvs_p": null,
"transcript": "ENST00000652026.1",
"protein_id": "ENSP00000498652.1",
"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": 9283,
"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": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF3B1",
"gene_hgnc_id": 10768,
"hgvs_c": "n.*2890T>A",
"hgvs_p": null,
"transcript": "ENST00000652738.1",
"protein_id": "ENSP00000499119.1",
"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": 8478,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF3B1",
"gene_hgnc_id": 10768,
"hgvs_c": "n.*3698T>A",
"hgvs_p": null,
"transcript": "ENST00000652026.1",
"protein_id": "ENSP00000498652.1",
"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": 9283,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF3B1",
"gene_hgnc_id": 10768,
"hgvs_c": "n.*2890T>A",
"hgvs_p": null,
"transcript": "ENST00000652738.1",
"protein_id": "ENSP00000499119.1",
"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": 8478,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SF3B1",
"gene_hgnc_id": 10768,
"dbsnp": "rs788018",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5400000214576721,
"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": -0.54,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.494,
"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": "NM_012433.4",
"gene_symbol": "SF3B1",
"hgnc_id": 10768,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2631T>A",
"hgvs_p": "p.Gly877Gly"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}