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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: 13-51355099-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=51355099&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 51355099,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000681248.1",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINE3",
"gene_hgnc_id": 24774,
"hgvs_c": "c.956C>G",
"hgvs_p": "p.Thr319Ser",
"transcript": "NM_001386375.1",
"protein_id": "NP_001373304.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 404,
"cds_start": 956,
"cds_end": null,
"cds_length": 1215,
"cdna_start": 1104,
"cdna_end": null,
"cdna_length": 1816,
"mane_select": "ENST00000681248.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINE3",
"gene_hgnc_id": 24774,
"hgvs_c": "c.956C>G",
"hgvs_p": "p.Thr319Ser",
"transcript": "ENST00000681248.1",
"protein_id": "ENSP00000506411.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 404,
"cds_start": 956,
"cds_end": null,
"cds_length": 1215,
"cdna_start": 1104,
"cdna_end": null,
"cdna_length": 1816,
"mane_select": "NM_001386375.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINE3",
"gene_hgnc_id": 24774,
"hgvs_c": "c.956C>G",
"hgvs_p": "p.Thr319Ser",
"transcript": "ENST00000521255.5",
"protein_id": "ENSP00000428316.1",
"transcript_support_level": 1,
"aa_start": 319,
"aa_end": null,
"aa_length": 424,
"cds_start": 956,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 1016,
"cdna_end": null,
"cdna_length": 1439,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINE3",
"gene_hgnc_id": 24774,
"hgvs_c": "c.956C>G",
"hgvs_p": "p.Thr319Ser",
"transcript": "ENST00000400389.5",
"protein_id": "ENSP00000441468.1",
"transcript_support_level": 1,
"aa_start": 319,
"aa_end": null,
"aa_length": 404,
"cds_start": 956,
"cds_end": null,
"cds_length": 1215,
"cdna_start": 959,
"cdna_end": null,
"cdna_length": 1218,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINE3",
"gene_hgnc_id": 24774,
"hgvs_c": "c.956C>G",
"hgvs_p": "p.Thr319Ser",
"transcript": "NM_001101320.1",
"protein_id": "NP_001094790.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 424,
"cds_start": 956,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 1016,
"cdna_end": null,
"cdna_length": 1441,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINE3",
"gene_hgnc_id": 24774,
"hgvs_c": "c.956C>G",
"hgvs_p": "p.Thr319Ser",
"transcript": "ENST00000524365.5",
"protein_id": "ENSP00000430755.1",
"transcript_support_level": 5,
"aa_start": 319,
"aa_end": null,
"aa_length": 404,
"cds_start": 956,
"cds_end": null,
"cds_length": 1215,
"cdna_start": 1581,
"cdna_end": null,
"cdna_length": 2293,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINE3",
"gene_hgnc_id": 24774,
"hgvs_c": "c.956C>G",
"hgvs_p": "p.Thr319Ser",
"transcript": "XM_047430544.1",
"protein_id": "XP_047286500.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 424,
"cds_start": 956,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 1104,
"cdna_end": null,
"cdna_length": 1529,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINE3",
"gene_hgnc_id": 24774,
"hgvs_c": "c.956C>G",
"hgvs_p": "p.Thr319Ser",
"transcript": "XM_047430545.1",
"protein_id": "XP_047286501.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 424,
"cds_start": 956,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 1317,
"cdna_end": null,
"cdna_length": 1742,
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "INTS6",
"gene_hgnc_id": 14879,
"hgvs_c": "n.431-763G>C",
"hgvs_p": null,
"transcript": "ENST00000476666.5",
"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": 690,
"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": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "INTS6",
"gene_hgnc_id": 14879,
"hgvs_c": "c.*50-763G>C",
"hgvs_p": null,
"transcript": "XM_011535040.4",
"protein_id": "XP_011533342.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 887,
"cds_start": -4,
"cds_end": null,
"cds_length": 2664,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7196,
"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": 22,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "INTS6",
"gene_hgnc_id": 14879,
"hgvs_c": "n.3225-763G>C",
"hgvs_p": null,
"transcript": "XR_007063673.1",
"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": 13702,
"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": 21,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "INTS6",
"gene_hgnc_id": 14879,
"hgvs_c": "n.3225-763G>C",
"hgvs_p": null,
"transcript": "XR_007063674.1",
"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": 14935,
"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": 21,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "INTS6",
"gene_hgnc_id": 14879,
"hgvs_c": "n.3225-763G>C",
"hgvs_p": null,
"transcript": "XR_007063675.1",
"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": 14200,
"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": 22,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "INTS6",
"gene_hgnc_id": 14879,
"hgvs_c": "n.3225-763G>C",
"hgvs_p": null,
"transcript": "XR_007063676.1",
"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": 12073,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SERPINE3",
"gene_hgnc_id": 24774,
"dbsnp": "rs753814971",
"frequency_reference_population": 0.0000042857937,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000428579,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.11875888705253601,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.206,
"revel_prediction": "Benign",
"alphamissense_score": 0.1409,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.48,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.081,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.06,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000681248.1",
"gene_symbol": "SERPINE3",
"hgnc_id": 24774,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.956C>G",
"hgvs_p": "p.Thr319Ser"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000476666.5",
"gene_symbol": "INTS6",
"hgnc_id": 14879,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.431-763G>C",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}