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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: 9-72751871-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=72751871&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 72751871,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000297784.10",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC1",
"gene_hgnc_id": 16513,
"hgvs_c": "c.557C>T",
"hgvs_p": "p.Ala186Val",
"transcript": "NM_138691.3",
"protein_id": "NP_619636.2",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 760,
"cds_start": 557,
"cds_end": null,
"cds_length": 2283,
"cdna_start": 1290,
"cdna_end": null,
"cdna_length": 5340,
"mane_select": "ENST00000297784.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC1",
"gene_hgnc_id": 16513,
"hgvs_c": "c.557C>T",
"hgvs_p": "p.Ala186Val",
"transcript": "ENST00000297784.10",
"protein_id": "ENSP00000297784.6",
"transcript_support_level": 1,
"aa_start": 186,
"aa_end": null,
"aa_length": 760,
"cds_start": 557,
"cds_end": null,
"cds_length": 2283,
"cdna_start": 1290,
"cdna_end": null,
"cdna_length": 5340,
"mane_select": "NM_138691.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC1",
"gene_hgnc_id": 16513,
"hgvs_c": "c.557C>T",
"hgvs_p": "p.Ala186Val",
"transcript": "ENST00000340019.4",
"protein_id": "ENSP00000341433.3",
"transcript_support_level": 5,
"aa_start": 186,
"aa_end": null,
"aa_length": 760,
"cds_start": 557,
"cds_end": null,
"cds_length": 2283,
"cdna_start": 964,
"cdna_end": null,
"cdna_length": 3068,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC1",
"gene_hgnc_id": 16513,
"hgvs_c": "c.557C>T",
"hgvs_p": "p.Ala186Val",
"transcript": "ENST00000645208.2",
"protein_id": "ENSP00000494684.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 760,
"cds_start": 557,
"cds_end": null,
"cds_length": 2283,
"cdna_start": 1098,
"cdna_end": null,
"cdna_length": 5142,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC1",
"gene_hgnc_id": 16513,
"hgvs_c": "c.431C>T",
"hgvs_p": "p.Ala144Val",
"transcript": "ENST00000645773.1",
"protein_id": "ENSP00000493698.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 687,
"cds_start": 431,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 821,
"cdna_end": null,
"cdna_length": 2454,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC1",
"gene_hgnc_id": 16513,
"hgvs_c": "c.119C>T",
"hgvs_p": "p.Ala40Val",
"transcript": "ENST00000651183.1",
"protein_id": "ENSP00000498723.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 636,
"cds_start": 119,
"cds_end": null,
"cds_length": 1911,
"cdna_start": 734,
"cdna_end": null,
"cdna_length": 4707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC1",
"gene_hgnc_id": 16513,
"hgvs_c": "c.119C>T",
"hgvs_p": "p.Ala40Val",
"transcript": "ENST00000646619.1",
"protein_id": "ENSP00000493726.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 626,
"cds_start": 119,
"cds_end": null,
"cds_length": 1881,
"cdna_start": 459,
"cdna_end": null,
"cdna_length": 2221,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC1",
"gene_hgnc_id": 16513,
"hgvs_c": "c.560C>T",
"hgvs_p": "p.Ala187Val",
"transcript": "XM_017014256.2",
"protein_id": "XP_016869745.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 761,
"cds_start": 560,
"cds_end": null,
"cds_length": 2286,
"cdna_start": 820,
"cdna_end": null,
"cdna_length": 4870,
"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": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC1",
"gene_hgnc_id": 16513,
"hgvs_c": "n.119C>T",
"hgvs_p": null,
"transcript": "ENST00000644967.1",
"protein_id": "ENSP00000496159.1",
"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": 2477,
"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": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC1",
"gene_hgnc_id": 16513,
"hgvs_c": "n.119C>T",
"hgvs_p": null,
"transcript": "ENST00000645053.1",
"protein_id": "ENSP00000493838.1",
"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": 4445,
"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": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC1",
"gene_hgnc_id": 16513,
"hgvs_c": "n.597C>T",
"hgvs_p": null,
"transcript": "ENST00000645787.1",
"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": 2514,
"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": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC1",
"gene_hgnc_id": 16513,
"hgvs_c": "n.855C>T",
"hgvs_p": null,
"transcript": "ENST00000650689.1",
"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": 2122,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TMC1",
"gene_hgnc_id": 16513,
"dbsnp": "rs727504470",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5072437524795532,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.297,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.938,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.18,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.503,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.04,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP2",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000297784.10",
"gene_symbol": "TMC1",
"hgnc_id": 16513,
"effects": [
"missense_variant"
],
"inheritance_mode": "SD,AR,AD",
"hgvs_c": "c.557C>T",
"hgvs_p": "p.Ala186Val"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}