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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: 1-26324154-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=26324154&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 26324154,
"ref": "G",
"alt": "A",
"effect": "stop_gained,splice_region_variant",
"transcript": "ENST00000308182.10",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYBG2",
"gene_hgnc_id": 17295,
"hgvs_c": "c.4735C>T",
"hgvs_p": "p.Gln1579*",
"transcript": "NM_001039775.4",
"protein_id": "NP_001034864.2",
"transcript_support_level": null,
"aa_start": 1579,
"aa_end": null,
"aa_length": 1661,
"cds_start": 4735,
"cds_end": null,
"cds_length": 4986,
"cdna_start": 4885,
"cdna_end": null,
"cdna_length": 5239,
"mane_select": "ENST00000308182.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYBG2",
"gene_hgnc_id": 17295,
"hgvs_c": "c.4735C>T",
"hgvs_p": "p.Gln1579*",
"transcript": "ENST00000308182.10",
"protein_id": "ENSP00000310435.6",
"transcript_support_level": 5,
"aa_start": 1579,
"aa_end": null,
"aa_length": 1661,
"cds_start": 4735,
"cds_end": null,
"cds_length": 4986,
"cdna_start": 4885,
"cdna_end": null,
"cdna_length": 5239,
"mane_select": "NM_001039775.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYBG2",
"gene_hgnc_id": 17295,
"hgvs_c": "c.5707C>T",
"hgvs_p": "p.Gln1903*",
"transcript": "ENST00000475866.3",
"protein_id": "ENSP00000428746.2",
"transcript_support_level": 4,
"aa_start": 1903,
"aa_end": null,
"aa_length": 1985,
"cds_start": 5707,
"cds_end": null,
"cds_length": 5958,
"cdna_start": 5738,
"cdna_end": null,
"cdna_length": 6259,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYBG2",
"gene_hgnc_id": 17295,
"hgvs_c": "c.4906C>T",
"hgvs_p": "p.Gln1636*",
"transcript": "XM_011541673.3",
"protein_id": "XP_011539975.1",
"transcript_support_level": null,
"aa_start": 1636,
"aa_end": null,
"aa_length": 1718,
"cds_start": 4906,
"cds_end": null,
"cds_length": 5157,
"cdna_start": 5107,
"cdna_end": null,
"cdna_length": 5461,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYBG2",
"gene_hgnc_id": 17295,
"hgvs_c": "c.4735C>T",
"hgvs_p": "p.Gln1579*",
"transcript": "XM_005245918.3",
"protein_id": "XP_005245975.1",
"transcript_support_level": null,
"aa_start": 1579,
"aa_end": null,
"aa_length": 1661,
"cds_start": 4735,
"cds_end": null,
"cds_length": 4986,
"cdna_start": 4875,
"cdna_end": null,
"cdna_length": 5229,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYBG2",
"gene_hgnc_id": 17295,
"hgvs_c": "c.4699C>T",
"hgvs_p": "p.Gln1567*",
"transcript": "XM_011541672.2",
"protein_id": "XP_011539974.1",
"transcript_support_level": null,
"aa_start": 1567,
"aa_end": null,
"aa_length": 1649,
"cds_start": 4699,
"cds_end": null,
"cds_length": 4950,
"cdna_start": 4839,
"cdna_end": null,
"cdna_length": 5193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYBG2",
"gene_hgnc_id": 17295,
"hgvs_c": "n.213C>T",
"hgvs_p": null,
"transcript": "ENST00000374208.1",
"protein_id": null,
"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": 469,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYBG2",
"gene_hgnc_id": 17295,
"hgvs_c": "n.349C>T",
"hgvs_p": null,
"transcript": "ENST00000374211.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 691,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CRYBG2",
"gene_hgnc_id": 17295,
"dbsnp": "rs142203406",
"frequency_reference_population": 6.8447395e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84474e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.550000011920929,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.9860000014305115,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.55,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.221,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.36,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": 0.999824972736655,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000308182.10",
"gene_symbol": "CRYBG2",
"hgnc_id": 17295,
"effects": [
"stop_gained",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.4735C>T",
"hgvs_p": "p.Gln1579*"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}