← Back to variant description
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: 22-50526657-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=50526657&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 50526657,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000252029.8",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYMP",
"gene_hgnc_id": 3148,
"hgvs_c": "c.847C>T",
"hgvs_p": "p.His283Tyr",
"transcript": "NM_001953.5",
"protein_id": "NP_001944.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 482,
"cds_start": 847,
"cds_end": null,
"cds_length": 1449,
"cdna_start": 966,
"cdna_end": null,
"cdna_length": 1586,
"mane_select": "ENST00000252029.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYMP",
"gene_hgnc_id": 3148,
"hgvs_c": "c.847C>T",
"hgvs_p": "p.His283Tyr",
"transcript": "ENST00000252029.8",
"protein_id": "ENSP00000252029.3",
"transcript_support_level": 1,
"aa_start": 283,
"aa_end": null,
"aa_length": 482,
"cds_start": 847,
"cds_end": null,
"cds_length": 1449,
"cdna_start": 966,
"cdna_end": null,
"cdna_length": 1586,
"mane_select": "NM_001953.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYMP",
"gene_hgnc_id": 3148,
"hgvs_c": "c.847C>T",
"hgvs_p": "p.His283Tyr",
"transcript": "ENST00000395681.6",
"protein_id": "ENSP00000379038.1",
"transcript_support_level": 1,
"aa_start": 283,
"aa_end": null,
"aa_length": 487,
"cds_start": 847,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 966,
"cdna_end": null,
"cdna_length": 1601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYMP",
"gene_hgnc_id": 3148,
"hgvs_c": "c.847C>T",
"hgvs_p": "p.His283Tyr",
"transcript": "ENST00000395678.7",
"protein_id": "ENSP00000379036.3",
"transcript_support_level": 1,
"aa_start": 283,
"aa_end": null,
"aa_length": 482,
"cds_start": 847,
"cds_end": null,
"cds_length": 1449,
"cdna_start": 998,
"cdna_end": null,
"cdna_length": 1614,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYMP",
"gene_hgnc_id": 3148,
"hgvs_c": "c.847C>T",
"hgvs_p": "p.His283Tyr",
"transcript": "ENST00000395680.6",
"protein_id": "ENSP00000379037.1",
"transcript_support_level": 1,
"aa_start": 283,
"aa_end": null,
"aa_length": 482,
"cds_start": 847,
"cds_end": null,
"cds_length": 1449,
"cdna_start": 1001,
"cdna_end": null,
"cdna_length": 1621,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYMP",
"gene_hgnc_id": 3148,
"hgvs_c": "c.847C>T",
"hgvs_p": "p.His283Tyr",
"transcript": "ENST00000487577.5",
"protein_id": "ENSP00000498844.1",
"transcript_support_level": 1,
"aa_start": 283,
"aa_end": null,
"aa_length": 482,
"cds_start": 847,
"cds_end": null,
"cds_length": 1449,
"cdna_start": 1134,
"cdna_end": null,
"cdna_length": 1751,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYMP",
"gene_hgnc_id": 3148,
"hgvs_c": "c.847C>T",
"hgvs_p": "p.His283Tyr",
"transcript": "NM_001257989.1",
"protein_id": "NP_001244918.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 487,
"cds_start": 847,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 1039,
"cdna_end": null,
"cdna_length": 1674,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYMP",
"gene_hgnc_id": 3148,
"hgvs_c": "c.847C>T",
"hgvs_p": "p.His283Tyr",
"transcript": "NM_001113755.3",
"protein_id": "NP_001107227.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 482,
"cds_start": 847,
"cds_end": null,
"cds_length": 1449,
"cdna_start": 978,
"cdna_end": null,
"cdna_length": 1598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYMP",
"gene_hgnc_id": 3148,
"hgvs_c": "c.847C>T",
"hgvs_p": "p.His283Tyr",
"transcript": "NM_001113756.3",
"protein_id": "NP_001107228.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 482,
"cds_start": 847,
"cds_end": null,
"cds_length": 1449,
"cdna_start": 1150,
"cdna_end": null,
"cdna_length": 1770,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYMP",
"gene_hgnc_id": 3148,
"hgvs_c": "c.847C>T",
"hgvs_p": "p.His283Tyr",
"transcript": "NM_001257988.1",
"protein_id": "NP_001244917.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 482,
"cds_start": 847,
"cds_end": null,
"cds_length": 1449,
"cdna_start": 1074,
"cdna_end": null,
"cdna_length": 1694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYMP",
"gene_hgnc_id": 3148,
"hgvs_c": "c.748C>T",
"hgvs_p": "p.His250Tyr",
"transcript": "ENST00000425169.1",
"protein_id": "ENSP00000395875.1",
"transcript_support_level": 5,
"aa_start": 250,
"aa_end": null,
"aa_length": 444,
"cds_start": 748,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 845,
"cdna_end": null,
"cdna_length": 1432,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYMP",
"gene_hgnc_id": 3148,
"hgvs_c": "c.728C>T",
"hgvs_p": "p.Pro243Leu",
"transcript": "ENST00000650719.1",
"protein_id": "ENSP00000498276.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 324,
"cds_start": 728,
"cds_end": null,
"cds_length": 976,
"cdna_start": 853,
"cdna_end": null,
"cdna_length": 1101,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYMP",
"gene_hgnc_id": 3148,
"hgvs_c": "c.346C>T",
"hgvs_p": "p.His116Tyr",
"transcript": "ENST00000652401.1",
"protein_id": "ENSP00000498619.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 287,
"cds_start": 346,
"cds_end": null,
"cds_length": 864,
"cdna_start": 348,
"cdna_end": null,
"cdna_length": 866,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYMP",
"gene_hgnc_id": 3148,
"hgvs_c": "c.331C>T",
"hgvs_p": "p.His111Tyr",
"transcript": "ENST00000651401.1",
"protein_id": "ENSP00000499115.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 168,
"cds_start": 331,
"cds_end": null,
"cds_length": 508,
"cdna_start": 439,
"cdna_end": null,
"cdna_length": 616,
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYMP",
"gene_hgnc_id": 3148,
"hgvs_c": "n.853C>T",
"hgvs_p": null,
"transcript": "ENST00000476284.1",
"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": 1572,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCO2",
"gene_hgnc_id": 10604,
"hgvs_c": "c.-425C>T",
"hgvs_p": null,
"transcript": "NM_001169109.2",
"protein_id": "NP_001162580.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 266,
"cds_start": -4,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1054,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCO2",
"gene_hgnc_id": 10604,
"hgvs_c": "c.-425C>T",
"hgvs_p": null,
"transcript": "ENST00000543927.6",
"protein_id": "ENSP00000444433.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 266,
"cds_start": -4,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1068,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYMP",
"gene_hgnc_id": 3148,
"hgvs_c": "n.*234C>T",
"hgvs_p": null,
"transcript": "ENST00000652352.1",
"protein_id": "ENSP00000498579.1",
"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": 525,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TYMP",
"gene_hgnc_id": 3148,
"dbsnp": "rs1064792871",
"frequency_reference_population": 0.000004976617,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000497662,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9131776094436646,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.523,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.507,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 1.351,
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM1",
"PM2",
"PP3_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000252029.8",
"gene_symbol": "TYMP",
"hgnc_id": 3148,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.847C>T",
"hgvs_p": "p.His283Tyr"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001169109.2",
"gene_symbol": "SCO2",
"hgnc_id": 10604,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.-425C>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
}