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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: 2-28412086-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=28412086&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 28412086,
"ref": "C",
"alt": "T",
"effect": "stop_gained",
"transcript": "NM_005253.4",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOSL2",
"gene_hgnc_id": 3798,
"hgvs_c": "c.619C>T",
"hgvs_p": "p.Gln207*",
"transcript": "NM_005253.4",
"protein_id": "NP_005244.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 326,
"cds_start": 619,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000264716.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005253.4"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOSL2",
"gene_hgnc_id": 3798,
"hgvs_c": "c.619C>T",
"hgvs_p": "p.Gln207*",
"transcript": "ENST00000264716.9",
"protein_id": "ENSP00000264716.4",
"transcript_support_level": 1,
"aa_start": 207,
"aa_end": null,
"aa_length": 326,
"cds_start": 619,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005253.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264716.9"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOSL2",
"gene_hgnc_id": 3798,
"hgvs_c": "c.595C>T",
"hgvs_p": "p.Gln199*",
"transcript": "ENST00000379619.5",
"protein_id": "ENSP00000368939.1",
"transcript_support_level": 1,
"aa_start": 199,
"aa_end": null,
"aa_length": 318,
"cds_start": 595,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379619.5"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOSL2",
"gene_hgnc_id": 3798,
"hgvs_c": "c.670C>T",
"hgvs_p": "p.Gln224*",
"transcript": "ENST00000902793.1",
"protein_id": "ENSP00000572852.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 343,
"cds_start": 670,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902793.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOSL2",
"gene_hgnc_id": 3798,
"hgvs_c": "c.367C>T",
"hgvs_p": "p.Gln123*",
"transcript": "ENST00000956567.1",
"protein_id": "ENSP00000626626.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 242,
"cds_start": 367,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956567.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOSL2",
"gene_hgnc_id": 3798,
"hgvs_c": "c.502C>T",
"hgvs_p": "p.Gln168*",
"transcript": "ENST00000436647.1",
"protein_id": "ENSP00000396497.1",
"transcript_support_level": 2,
"aa_start": 168,
"aa_end": null,
"aa_length": 201,
"cds_start": 502,
"cds_end": null,
"cds_length": 608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000436647.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOSL2",
"gene_hgnc_id": 3798,
"hgvs_c": "c.670C>T",
"hgvs_p": "p.Gln224*",
"transcript": "XM_006711976.4",
"protein_id": "XP_006712039.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 343,
"cds_start": 670,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006711976.4"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOSL2",
"gene_hgnc_id": 3798,
"hgvs_c": "c.553C>T",
"hgvs_p": "p.Gln185*",
"transcript": "XM_006711977.4",
"protein_id": "XP_006712040.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 304,
"cds_start": 553,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006711977.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOSL2",
"gene_hgnc_id": 3798,
"hgvs_c": "c.*104C>T",
"hgvs_p": null,
"transcript": "XM_005264231.5",
"protein_id": "XP_005264288.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 205,
"cds_start": null,
"cds_end": null,
"cds_length": 618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005264231.5"
}
],
"gene_symbol": "FOSL2",
"gene_hgnc_id": 3798,
"dbsnp": null,
"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": 0.5600000023841858,
"computational_prediction_selected": "Pathogenic",
"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": 0.56,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 4.512,
"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": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PVS1_Strong,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PVS1_Strong",
"PM2",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_005253.4",
"gene_symbol": "FOSL2",
"hgnc_id": 3798,
"effects": [
"stop_gained"
],
"inheritance_mode": "AD",
"hgvs_c": "c.619C>T",
"hgvs_p": "p.Gln207*"
}
],
"clinvar_disease": "Aplasia cutis-enamel dysplasia syndrome",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Aplasia cutis-enamel dysplasia syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}