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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: 12-119187059-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=119187059&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 119187059,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000281938.7",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPB8",
"gene_hgnc_id": 30171,
"hgvs_c": "c.402T>C",
"hgvs_p": "p.Ile134Ile",
"transcript": "NM_014365.3",
"protein_id": "NP_055180.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 196,
"cds_start": 402,
"cds_end": null,
"cds_length": 591,
"cdna_start": 784,
"cdna_end": null,
"cdna_length": 1861,
"mane_select": "ENST00000281938.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPB8",
"gene_hgnc_id": 30171,
"hgvs_c": "c.402T>C",
"hgvs_p": "p.Ile134Ile",
"transcript": "ENST00000281938.7",
"protein_id": "ENSP00000281938.3",
"transcript_support_level": 1,
"aa_start": 134,
"aa_end": null,
"aa_length": 196,
"cds_start": 402,
"cds_end": null,
"cds_length": 591,
"cdna_start": 784,
"cdna_end": null,
"cdna_length": 1861,
"mane_select": "NM_014365.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPB8",
"gene_hgnc_id": 30171,
"hgvs_c": "c.123T>C",
"hgvs_p": "p.Ile41Ile",
"transcript": "ENST00000541798.1",
"protein_id": "ENSP00000441541.1",
"transcript_support_level": 3,
"aa_start": 41,
"aa_end": null,
"aa_length": 151,
"cds_start": 123,
"cds_end": null,
"cds_length": 456,
"cdna_start": 125,
"cdna_end": null,
"cdna_length": 637,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPB8",
"gene_hgnc_id": 30171,
"hgvs_c": "c.33T>C",
"hgvs_p": "p.Ile11Ile",
"transcript": "ENST00000674763.1",
"protein_id": "ENSP00000502573.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 97,
"cds_start": 33,
"cds_end": null,
"cds_length": 294,
"cdna_start": 35,
"cdna_end": null,
"cdna_length": 296,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPB8",
"gene_hgnc_id": 30171,
"hgvs_c": "c.33T>C",
"hgvs_p": "p.Ile11Ile",
"transcript": "ENST00000675573.1",
"protein_id": "ENSP00000502777.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 94,
"cds_start": 33,
"cds_end": null,
"cds_length": 285,
"cdna_start": 35,
"cdna_end": null,
"cdna_length": 287,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPB8",
"gene_hgnc_id": 30171,
"hgvs_c": "c.33T>C",
"hgvs_p": "p.Ile11Ile",
"transcript": "ENST00000674852.1",
"protein_id": "ENSP00000502778.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 50,
"cds_start": 33,
"cds_end": null,
"cds_length": 153,
"cdna_start": 35,
"cdna_end": null,
"cdna_length": 482,
"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": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPB8",
"gene_hgnc_id": 30171,
"hgvs_c": "n.260T>C",
"hgvs_p": null,
"transcript": "ENST00000542496.1",
"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": 419,
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPB8",
"gene_hgnc_id": 30171,
"hgvs_c": "n.575T>C",
"hgvs_p": null,
"transcript": "ENST00000674715.1",
"protein_id": null,
"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": 1525,
"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": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPB8",
"gene_hgnc_id": 30171,
"hgvs_c": "n.33T>C",
"hgvs_p": null,
"transcript": "ENST00000675110.1",
"protein_id": "ENSP00000501705.1",
"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": 337,
"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": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPB8",
"gene_hgnc_id": 30171,
"hgvs_c": "n.33T>C",
"hgvs_p": null,
"transcript": "ENST00000675211.1",
"protein_id": "ENSP00000502394.1",
"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": 354,
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPB8",
"gene_hgnc_id": 30171,
"hgvs_c": "n.135T>C",
"hgvs_p": null,
"transcript": "ENST00000676071.1",
"protein_id": null,
"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": 1084,
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPB8",
"gene_hgnc_id": 30171,
"hgvs_c": "n.108T>C",
"hgvs_p": null,
"transcript": "ENST00000676244.1",
"protein_id": null,
"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": 382,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HSPB8",
"gene_hgnc_id": 30171,
"hgvs_c": "c.368-6640T>C",
"hgvs_p": null,
"transcript": "ENST00000674542.1",
"protein_id": "ENSP00000502352.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 130,
"cds_start": -4,
"cds_end": null,
"cds_length": 393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1717,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HSPB8",
"gene_hgnc_id": 30171,
"hgvs_c": "n.21+5023T>C",
"hgvs_p": null,
"transcript": "ENST00000675900.1",
"protein_id": null,
"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": 928,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "HSPB8",
"gene_hgnc_id": 30171,
"dbsnp": "rs56323028",
"frequency_reference_population": 0.005218433,
"hom_count_reference_population": 387,
"allele_count_reference_population": 8423,
"gnomad_exomes_af": 0.00286083,
"gnomad_genomes_af": 0.0278518,
"gnomad_exomes_ac": 4182,
"gnomad_genomes_ac": 4241,
"gnomad_exomes_homalt": 187,
"gnomad_genomes_homalt": 200,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2720000147819519,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.272,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.64,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.884,
"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": -18,
"acmg_classification": "Benign",
"acmg_criteria": "BP4,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -18,
"benign_score": 18,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000281938.7",
"gene_symbol": "HSPB8",
"hgnc_id": 30171,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.402T>C",
"hgvs_p": "p.Ile134Ile"
}
],
"clinvar_disease": " distal hereditary motor, type 2A,Charcot-Marie-Tooth disease axonal type 2L,Neuronopathy,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:7",
"phenotype_combined": "not specified|Neuronopathy, distal hereditary motor, type 2A|Charcot-Marie-Tooth disease axonal type 2L|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}