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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: 11-2167446-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=2167446&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 2167446,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000352909.8",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TH",
"gene_hgnc_id": 11782,
"hgvs_c": "c.684G>A",
"hgvs_p": "p.Glu228Glu",
"transcript": "NM_000360.4",
"protein_id": "NP_000351.2",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 497,
"cds_start": 684,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 713,
"cdna_end": null,
"cdna_length": 1827,
"mane_select": "ENST00000352909.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TH",
"gene_hgnc_id": 11782,
"hgvs_c": "c.684G>A",
"hgvs_p": "p.Glu228Glu",
"transcript": "ENST00000352909.8",
"protein_id": "ENSP00000325951.4",
"transcript_support_level": 1,
"aa_start": 228,
"aa_end": null,
"aa_length": 497,
"cds_start": 684,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 713,
"cdna_end": null,
"cdna_length": 1827,
"mane_select": "NM_000360.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TH",
"gene_hgnc_id": 11782,
"hgvs_c": "c.777G>A",
"hgvs_p": "p.Glu259Glu",
"transcript": "ENST00000381178.5",
"protein_id": "ENSP00000370571.1",
"transcript_support_level": 1,
"aa_start": 259,
"aa_end": null,
"aa_length": 528,
"cds_start": 777,
"cds_end": null,
"cds_length": 1587,
"cdna_start": 796,
"cdna_end": null,
"cdna_length": 1910,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TH",
"gene_hgnc_id": 11782,
"hgvs_c": "c.765G>A",
"hgvs_p": "p.Glu255Glu",
"transcript": "ENST00000381175.5",
"protein_id": "ENSP00000370567.1",
"transcript_support_level": 1,
"aa_start": 255,
"aa_end": null,
"aa_length": 524,
"cds_start": 765,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 784,
"cdna_end": null,
"cdna_length": 1898,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TH",
"gene_hgnc_id": 11782,
"hgvs_c": "c.684G>A",
"hgvs_p": "p.Glu228Glu",
"transcript": "ENST00000333684.9",
"protein_id": "ENSP00000328814.6",
"transcript_support_level": 1,
"aa_start": 228,
"aa_end": null,
"aa_length": 403,
"cds_start": 684,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 703,
"cdna_end": null,
"cdna_length": 1535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TH",
"gene_hgnc_id": 11782,
"hgvs_c": "c.123G>A",
"hgvs_p": "p.Glu41Glu",
"transcript": "ENST00000412076.1",
"protein_id": "ENSP00000403546.1",
"transcript_support_level": 1,
"aa_start": 41,
"aa_end": null,
"aa_length": 114,
"cds_start": 123,
"cds_end": null,
"cds_length": 346,
"cdna_start": 124,
"cdna_end": null,
"cdna_length": 347,
"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": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TH",
"gene_hgnc_id": 11782,
"hgvs_c": "n.123G>A",
"hgvs_p": null,
"transcript": "ENST00000416223.5",
"protein_id": "ENSP00000403440.1",
"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": 483,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TH",
"gene_hgnc_id": 11782,
"hgvs_c": "c.777G>A",
"hgvs_p": "p.Glu259Glu",
"transcript": "NM_199292.3",
"protein_id": "NP_954986.2",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 528,
"cds_start": 777,
"cds_end": null,
"cds_length": 1587,
"cdna_start": 806,
"cdna_end": null,
"cdna_length": 1920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TH",
"gene_hgnc_id": 11782,
"hgvs_c": "c.765G>A",
"hgvs_p": "p.Glu255Glu",
"transcript": "NM_199293.3",
"protein_id": "NP_954987.2",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 524,
"cds_start": 765,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 794,
"cdna_end": null,
"cdna_length": 1908,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TH",
"gene_hgnc_id": 11782,
"hgvs_c": "c.696G>A",
"hgvs_p": "p.Glu232Glu",
"transcript": "NM_001440535.1",
"protein_id": "NP_001427464.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 501,
"cds_start": 696,
"cds_end": null,
"cds_length": 1506,
"cdna_start": 725,
"cdna_end": null,
"cdna_length": 1839,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TH",
"gene_hgnc_id": 11782,
"hgvs_c": "c.696G>A",
"hgvs_p": "p.Glu232Glu",
"transcript": "NM_001440536.1",
"protein_id": "NP_001427465.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 407,
"cds_start": 696,
"cds_end": null,
"cds_length": 1224,
"cdna_start": 725,
"cdna_end": null,
"cdna_length": 1557,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TH",
"gene_hgnc_id": 11782,
"hgvs_c": "c.684G>A",
"hgvs_p": "p.Glu228Glu",
"transcript": "NM_001440537.1",
"protein_id": "NP_001427466.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 403,
"cds_start": 684,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 713,
"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": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TH",
"gene_hgnc_id": 11782,
"hgvs_c": "n.*373G>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": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TH",
"gene_hgnc_id": 11782,
"hgvs_c": "n.*404G>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": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TH",
"gene_hgnc_id": 11782,
"hgvs_c": "n.813G>A",
"hgvs_p": null,
"transcript": "ENST00000469226.1",
"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": 963,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TH",
"gene_hgnc_id": 11782,
"hgvs_c": "n.*373G>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": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TH",
"gene_hgnc_id": 11782,
"hgvs_c": "n.*404G>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": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000295384",
"gene_hgnc_id": null,
"hgvs_c": "n.175-365C>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": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000295384",
"gene_hgnc_id": null,
"hgvs_c": "n.226-365C>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
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TH",
"gene_hgnc_id": 11782,
"hgvs_c": "n.-170G>A",
"hgvs_p": null,
"transcript": "ENST00000479437.5",
"protein_id": null,
"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": 745,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TH",
"gene_hgnc_id": 11782,
"dbsnp": "rs11564716",
"frequency_reference_population": 0.0086221015,
"hom_count_reference_population": 78,
"allele_count_reference_population": 13478,
"gnomad_exomes_af": 0.00881733,
"gnomad_genomes_af": 0.00681397,
"gnomad_exomes_ac": 12440,
"gnomad_genomes_ac": 1038,
"gnomad_exomes_homalt": 66,
"gnomad_genomes_homalt": 12,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.03400000184774399,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.034,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.52,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.856,
"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": -19,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -19,
"benign_score": 19,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000352909.8",
"gene_symbol": "TH",
"hgnc_id": 11782,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.684G>A",
"hgvs_p": "p.Glu228Glu"
},
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000729705.1",
"gene_symbol": "ENSG00000295384",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.175-365C>T",
"hgvs_p": null
}
],
"clinvar_disease": "Autosomal recessive DOPA responsive dystonia,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3 B:5",
"phenotype_combined": "not specified|Autosomal recessive DOPA responsive dystonia|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}