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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: 12-121823550-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=121823550&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 121823550,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_001353345.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD1B",
"gene_hgnc_id": 29187,
"hgvs_c": "c.4971G>A",
"hgvs_p": "p.Ala1657Ala",
"transcript": "NM_001353345.2",
"protein_id": "NP_001340274.1",
"transcript_support_level": null,
"aa_start": 1657,
"aa_end": null,
"aa_length": 1966,
"cds_start": 4971,
"cds_end": null,
"cds_length": 5901,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000604567.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353345.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD1B",
"gene_hgnc_id": 29187,
"hgvs_c": "c.4971G>A",
"hgvs_p": "p.Ala1657Ala",
"transcript": "ENST00000604567.6",
"protein_id": "ENSP00000474253.1",
"transcript_support_level": 5,
"aa_start": 1657,
"aa_end": null,
"aa_length": 1966,
"cds_start": 4971,
"cds_end": null,
"cds_length": 5901,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001353345.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000604567.6"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD1B",
"gene_hgnc_id": 29187,
"hgvs_c": "c.4971G>A",
"hgvs_p": "p.Ala1657Ala",
"transcript": "ENST00000619791.1",
"protein_id": "ENSP00000481531.1",
"transcript_support_level": 1,
"aa_start": 1657,
"aa_end": null,
"aa_length": 1966,
"cds_start": 4971,
"cds_end": null,
"cds_length": 5901,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000619791.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD1B",
"gene_hgnc_id": 29187,
"hgvs_c": "c.4842G>A",
"hgvs_p": "p.Ala1614Ala",
"transcript": "ENST00000542440.5",
"protein_id": "ENSP00000442924.1",
"transcript_support_level": 5,
"aa_start": 1614,
"aa_end": null,
"aa_length": 1923,
"cds_start": 4842,
"cds_end": null,
"cds_length": 5772,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000542440.5"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD1B",
"gene_hgnc_id": 29187,
"hgvs_c": "c.4971G>A",
"hgvs_p": "p.Ala1657Ala",
"transcript": "XM_024448898.2",
"protein_id": "XP_024304666.1",
"transcript_support_level": null,
"aa_start": 1657,
"aa_end": null,
"aa_length": 1966,
"cds_start": 4971,
"cds_end": null,
"cds_length": 5901,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448898.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD1B",
"gene_hgnc_id": 29187,
"hgvs_c": "c.4971G>A",
"hgvs_p": "p.Ala1657Ala",
"transcript": "XM_047428552.1",
"protein_id": "XP_047284508.1",
"transcript_support_level": null,
"aa_start": 1657,
"aa_end": null,
"aa_length": 1966,
"cds_start": 4971,
"cds_end": null,
"cds_length": 5901,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428552.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD1B",
"gene_hgnc_id": 29187,
"hgvs_c": "c.4971G>A",
"hgvs_p": "p.Ala1657Ala",
"transcript": "XM_047428553.1",
"protein_id": "XP_047284509.1",
"transcript_support_level": null,
"aa_start": 1657,
"aa_end": null,
"aa_length": 1966,
"cds_start": 4971,
"cds_end": null,
"cds_length": 5901,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428553.1"
}
],
"gene_symbol": "SETD1B",
"gene_hgnc_id": 29187,
"dbsnp": "rs3741593",
"frequency_reference_population": 0.5126135,
"hom_count_reference_population": 211876,
"allele_count_reference_population": 794880,
"gnomad_exomes_af": 0.524139,
"gnomad_genomes_af": 0.406436,
"gnomad_exomes_ac": 733166,
"gnomad_genomes_ac": 61714,
"gnomad_exomes_homalt": 196656,
"gnomad_genomes_homalt": 15220,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8999999761581421,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.9,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -4.772,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001353345.2",
"gene_symbol": "SETD1B",
"hgnc_id": 29187,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.4971G>A",
"hgvs_p": "p.Ala1657Ala"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}