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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: 11-2171771-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=2171771&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 2171771,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000352909.8",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TH",
"gene_hgnc_id": 11782,
"hgvs_c": "c.16G>A",
"hgvs_p": "p.Ala6Thr",
"transcript": "NM_000360.4",
"protein_id": "NP_000351.2",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 497,
"cds_start": 16,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 45,
"cdna_end": null,
"cdna_length": 1827,
"mane_select": "ENST00000352909.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TH",
"gene_hgnc_id": 11782,
"hgvs_c": "c.16G>A",
"hgvs_p": "p.Ala6Thr",
"transcript": "ENST00000352909.8",
"protein_id": "ENSP00000325951.4",
"transcript_support_level": 1,
"aa_start": 6,
"aa_end": null,
"aa_length": 497,
"cds_start": 16,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 45,
"cdna_end": null,
"cdna_length": 1827,
"mane_select": "NM_000360.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TH",
"gene_hgnc_id": 11782,
"hgvs_c": "c.16G>A",
"hgvs_p": "p.Ala6Thr",
"transcript": "ENST00000381178.5",
"protein_id": "ENSP00000370571.1",
"transcript_support_level": 1,
"aa_start": 6,
"aa_end": null,
"aa_length": 528,
"cds_start": 16,
"cds_end": null,
"cds_length": 1587,
"cdna_start": 35,
"cdna_end": null,
"cdna_length": 1910,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TH",
"gene_hgnc_id": 11782,
"hgvs_c": "c.16G>A",
"hgvs_p": "p.Ala6Thr",
"transcript": "ENST00000381175.5",
"protein_id": "ENSP00000370567.1",
"transcript_support_level": 1,
"aa_start": 6,
"aa_end": null,
"aa_length": 524,
"cds_start": 16,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 35,
"cdna_end": null,
"cdna_length": 1898,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TH",
"gene_hgnc_id": 11782,
"hgvs_c": "c.16G>A",
"hgvs_p": "p.Ala6Thr",
"transcript": "ENST00000333684.9",
"protein_id": "ENSP00000328814.6",
"transcript_support_level": 1,
"aa_start": 6,
"aa_end": null,
"aa_length": 403,
"cds_start": 16,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 35,
"cdna_end": null,
"cdna_length": 1535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TH",
"gene_hgnc_id": 11782,
"hgvs_c": "c.16G>A",
"hgvs_p": "p.Ala6Thr",
"transcript": "NM_199292.3",
"protein_id": "NP_954986.2",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 528,
"cds_start": 16,
"cds_end": null,
"cds_length": 1587,
"cdna_start": 45,
"cdna_end": null,
"cdna_length": 1920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TH",
"gene_hgnc_id": 11782,
"hgvs_c": "c.16G>A",
"hgvs_p": "p.Ala6Thr",
"transcript": "NM_199293.3",
"protein_id": "NP_954987.2",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 524,
"cds_start": 16,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 45,
"cdna_end": null,
"cdna_length": 1908,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TH",
"gene_hgnc_id": 11782,
"hgvs_c": "c.16G>A",
"hgvs_p": "p.Ala6Thr",
"transcript": "NM_001440535.1",
"protein_id": "NP_001427464.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 501,
"cds_start": 16,
"cds_end": null,
"cds_length": 1506,
"cdna_start": 45,
"cdna_end": null,
"cdna_length": 1839,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TH",
"gene_hgnc_id": 11782,
"hgvs_c": "c.16G>A",
"hgvs_p": "p.Ala6Thr",
"transcript": "NM_001440536.1",
"protein_id": "NP_001427465.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 407,
"cds_start": 16,
"cds_end": null,
"cds_length": 1224,
"cdna_start": 45,
"cdna_end": null,
"cdna_length": 1557,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TH",
"gene_hgnc_id": 11782,
"hgvs_c": "c.16G>A",
"hgvs_p": "p.Ala6Thr",
"transcript": "NM_001440537.1",
"protein_id": "NP_001427466.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 403,
"cds_start": 16,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 45,
"cdna_end": null,
"cdna_length": 1545,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TH",
"gene_hgnc_id": 11782,
"hgvs_c": "n.16G>A",
"hgvs_p": null,
"transcript": "ENST00000324155.8",
"protein_id": "ENSP00000325831.3",
"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": 1115,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TH",
"gene_hgnc_id": 11782,
"hgvs_c": "n.16G>A",
"hgvs_p": null,
"transcript": "ENST00000381168.7",
"protein_id": "ENSP00000370560.3",
"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": 985,
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000295384",
"gene_hgnc_id": null,
"hgvs_c": "n.321-2214C>T",
"hgvs_p": null,
"transcript": "ENST00000729705.1",
"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": 537,
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000295384",
"gene_hgnc_id": null,
"hgvs_c": "n.372-1019C>T",
"hgvs_p": null,
"transcript": "ENST00000729706.1",
"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": 639,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TH",
"gene_hgnc_id": 11782,
"dbsnp": "rs74555599",
"frequency_reference_population": 0.0048443903,
"hom_count_reference_population": 30,
"allele_count_reference_population": 7810,
"gnomad_exomes_af": 0.00489747,
"gnomad_genomes_af": 0.00433532,
"gnomad_exomes_ac": 7150,
"gnomad_genomes_ac": 660,
"gnomad_exomes_homalt": 26,
"gnomad_genomes_homalt": 4,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0050002336502075195,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.277,
"revel_prediction": "Benign",
"alphamissense_score": 0.0695,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.21,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.166,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000352909.8",
"gene_symbol": "TH",
"hgnc_id": 11782,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.16G>A",
"hgvs_p": "p.Ala6Thr"
},
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000729705.1",
"gene_symbol": "ENSG00000295384",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.321-2214C>T",
"hgvs_p": null
}
],
"clinvar_disease": "Autosomal recessive DOPA responsive dystonia,TH-related disorder,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:7",
"phenotype_combined": "not provided|Autosomal recessive DOPA responsive dystonia|not specified|TH-related disorder",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}