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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: 17-29129237-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=29129237&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 29129237,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000527372.7",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MYO18A",
"gene_hgnc_id": 31104,
"hgvs_c": "c.1000-6984C>T",
"hgvs_p": null,
"transcript": "NM_078471.4",
"protein_id": "NP_510880.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2054,
"cds_start": -4,
"cds_end": null,
"cds_length": 6165,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9980,
"mane_select": "ENST00000527372.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MYO18A",
"gene_hgnc_id": 31104,
"hgvs_c": "c.1000-6984C>T",
"hgvs_p": null,
"transcript": "ENST00000527372.7",
"protein_id": "ENSP00000437073.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2054,
"cds_start": -4,
"cds_end": null,
"cds_length": 6165,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9980,
"mane_select": "NM_078471.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MYO18A",
"gene_hgnc_id": 31104,
"hgvs_c": "c.1000-6984C>T",
"hgvs_p": null,
"transcript": "ENST00000533112.5",
"protein_id": "ENSP00000435932.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2002,
"cds_start": -4,
"cds_end": null,
"cds_length": 6009,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7522,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MYO18A",
"gene_hgnc_id": 31104,
"hgvs_c": "n.*28-6984C>T",
"hgvs_p": null,
"transcript": "ENST00000530254.6",
"protein_id": "ENSP00000434817.2",
"transcript_support_level": 1,
"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": 6479,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MYO18A",
"gene_hgnc_id": 31104,
"hgvs_c": "c.1000-4549C>T",
"hgvs_p": null,
"transcript": "NM_001346765.2",
"protein_id": "NP_001333694.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2058,
"cds_start": -4,
"cds_end": null,
"cds_length": 6177,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9992,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MYO18A",
"gene_hgnc_id": 31104,
"hgvs_c": "c.1000-4549C>T",
"hgvs_p": null,
"transcript": "NM_001346766.2",
"protein_id": "NP_001333695.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2051,
"cds_start": -4,
"cds_end": null,
"cds_length": 6156,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9971,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MYO18A",
"gene_hgnc_id": 31104,
"hgvs_c": "c.1000-4549C>T",
"hgvs_p": null,
"transcript": "ENST00000704659.1",
"protein_id": "ENSP00000515984.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2051,
"cds_start": -4,
"cds_end": null,
"cds_length": 6156,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MYO18A",
"gene_hgnc_id": 31104,
"hgvs_c": "c.1000-6984C>T",
"hgvs_p": null,
"transcript": "NM_203318.2",
"protein_id": "NP_976063.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2039,
"cds_start": -4,
"cds_end": null,
"cds_length": 6120,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9935,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MYO18A",
"gene_hgnc_id": 31104,
"hgvs_c": "c.1000-6984C>T",
"hgvs_p": null,
"transcript": "ENST00000531253.5",
"protein_id": "ENSP00000434228.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 2039,
"cds_start": -4,
"cds_end": null,
"cds_length": 6120,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7504,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MYO18A",
"gene_hgnc_id": 31104,
"hgvs_c": "c.1000-6984C>T",
"hgvs_p": null,
"transcript": "NM_001346767.2",
"protein_id": "NP_001333696.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2002,
"cds_start": -4,
"cds_end": null,
"cds_length": 6009,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9940,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MYO18A",
"gene_hgnc_id": 31104,
"hgvs_c": "c.-375-6984C>T",
"hgvs_p": null,
"transcript": "NM_001346768.2",
"protein_id": "NP_001333697.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1581,
"cds_start": -4,
"cds_end": null,
"cds_length": 4746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8888,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MYO18A",
"gene_hgnc_id": 31104,
"hgvs_c": "c.97-693C>T",
"hgvs_p": null,
"transcript": "ENST00000533420.3",
"protein_id": "ENSP00000490952.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 339,
"cds_start": -4,
"cds_end": null,
"cds_length": 1021,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1168,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MYO18A",
"gene_hgnc_id": 31104,
"hgvs_c": "c.7-4549C>T",
"hgvs_p": null,
"transcript": "ENST00000528564.2",
"protein_id": "ENSP00000436660.2",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 171,
"cds_start": -4,
"cds_end": null,
"cds_length": 516,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 589,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MYO18A",
"gene_hgnc_id": 31104,
"hgvs_c": "n.51-6984C>T",
"hgvs_p": null,
"transcript": "ENST00000528322.6",
"protein_id": null,
"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": 549,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MYO18A",
"gene_hgnc_id": 31104,
"hgvs_c": "n.125-6984C>T",
"hgvs_p": null,
"transcript": "ENST00000585573.6",
"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": 319,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MYO18A",
"gene_hgnc_id": 31104,
"hgvs_c": "n.84-6984C>T",
"hgvs_p": null,
"transcript": "ENST00000590242.5",
"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": 637,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MYO18A",
"gene_hgnc_id": 31104,
"dbsnp": "rs11080078",
"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": -0.9100000262260437,
"computational_prediction_selected": "Benign",
"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": -0.91,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.141,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000527372.7",
"gene_symbol": "MYO18A",
"hgnc_id": 31104,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1000-6984C>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}