← Back to variant description
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: 2-232528561-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=232528561&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 232528561,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000258385.8",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRND",
"gene_hgnc_id": 1965,
"hgvs_c": "c.414C>T",
"hgvs_p": "p.Phe138Phe",
"transcript": "NM_000751.3",
"protein_id": "NP_000742.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 517,
"cds_start": 414,
"cds_end": null,
"cds_length": 1554,
"cdna_start": 470,
"cdna_end": null,
"cdna_length": 2962,
"mane_select": "ENST00000258385.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRND",
"gene_hgnc_id": 1965,
"hgvs_c": "c.414C>T",
"hgvs_p": "p.Phe138Phe",
"transcript": "ENST00000258385.8",
"protein_id": "ENSP00000258385.3",
"transcript_support_level": 1,
"aa_start": 138,
"aa_end": null,
"aa_length": 517,
"cds_start": 414,
"cds_end": null,
"cds_length": 1554,
"cdna_start": 470,
"cdna_end": null,
"cdna_length": 2962,
"mane_select": "NM_000751.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRND",
"gene_hgnc_id": 1965,
"hgvs_c": "c.143C>T",
"hgvs_p": "p.Ser48Leu",
"transcript": "NM_001311195.2",
"protein_id": "NP_001298124.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 323,
"cds_start": 143,
"cds_end": null,
"cds_length": 972,
"cdna_start": 470,
"cdna_end": null,
"cdna_length": 2651,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRND",
"gene_hgnc_id": 1965,
"hgvs_c": "c.369C>T",
"hgvs_p": "p.Phe123Phe",
"transcript": "NM_001256657.2",
"protein_id": "NP_001243586.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 502,
"cds_start": 369,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 425,
"cdna_end": null,
"cdna_length": 2917,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRND",
"gene_hgnc_id": 1965,
"hgvs_c": "c.369C>T",
"hgvs_p": "p.Phe123Phe",
"transcript": "ENST00000543200.5",
"protein_id": "ENSP00000438380.1",
"transcript_support_level": 2,
"aa_start": 123,
"aa_end": null,
"aa_length": 502,
"cds_start": 369,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 425,
"cdna_end": null,
"cdna_length": 2918,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRND",
"gene_hgnc_id": 1965,
"hgvs_c": "c.111C>T",
"hgvs_p": "p.Phe37Phe",
"transcript": "NM_001311196.2",
"protein_id": "NP_001298125.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 416,
"cds_start": 111,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 438,
"cdna_end": null,
"cdna_length": 2930,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRND",
"gene_hgnc_id": 1965,
"hgvs_c": "c.369C>T",
"hgvs_p": "p.Phe123Phe",
"transcript": "ENST00000449596.5",
"protein_id": "ENSP00000404950.1",
"transcript_support_level": 4,
"aa_start": 123,
"aa_end": null,
"aa_length": 171,
"cds_start": 369,
"cds_end": null,
"cds_length": 516,
"cdna_start": 425,
"cdna_end": null,
"cdna_length": 572,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRND",
"gene_hgnc_id": 1965,
"hgvs_c": "n.414C>T",
"hgvs_p": null,
"transcript": "ENST00000412233.5",
"protein_id": "ENSP00000398143.1",
"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": 735,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRND",
"gene_hgnc_id": 1965,
"hgvs_c": "n.414C>T",
"hgvs_p": null,
"transcript": "ENST00000441621.6",
"protein_id": "ENSP00000408819.2",
"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": 3022,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRND",
"gene_hgnc_id": 1965,
"hgvs_c": "n.*55C>T",
"hgvs_p": null,
"transcript": "ENST00000446616.1",
"protein_id": "ENSP00000410801.1",
"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": 1580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRND",
"gene_hgnc_id": 1965,
"hgvs_c": "n.*55C>T",
"hgvs_p": null,
"transcript": "ENST00000446616.1",
"protein_id": "ENSP00000410801.1",
"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": 1580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CHRND",
"gene_hgnc_id": 1965,
"dbsnp": "rs150208750",
"frequency_reference_population": 0.00069577736,
"hom_count_reference_population": 7,
"allele_count_reference_population": 1123,
"gnomad_exomes_af": 0.000666266,
"gnomad_genomes_af": 0.000979335,
"gnomad_exomes_ac": 974,
"gnomad_genomes_ac": 149,
"gnomad_exomes_homalt": 7,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.22200000286102295,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.222,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.83,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -5.757,
"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": -11,
"acmg_classification": "Benign",
"acmg_criteria": "BP4,BP6,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BP6",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000258385.8",
"gene_symbol": "CHRND",
"hgnc_id": 1965,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.414C>T",
"hgvs_p": "p.Phe138Phe"
}
],
"clinvar_disease": "Congenital myasthenic syndrome,Lethal multiple pterygium syndrome,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:2 B:1",
"phenotype_combined": "Lethal multiple pterygium syndrome|Congenital myasthenic syndrome|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}