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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: 10-47356-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=47356&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 47356,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000568584.6",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBB8",
"gene_hgnc_id": 20773,
"hgvs_c": "c.1036C>T",
"hgvs_p": "p.Pro346Ser",
"transcript": "NM_177987.3",
"protein_id": "NP_817124.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 444,
"cds_start": 1036,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 1094,
"cdna_end": null,
"cdna_length": 1562,
"mane_select": "ENST00000568584.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBB8",
"gene_hgnc_id": 20773,
"hgvs_c": "c.1036C>T",
"hgvs_p": "p.Pro346Ser",
"transcript": "ENST00000568584.6",
"protein_id": "ENSP00000456206.2",
"transcript_support_level": 1,
"aa_start": 346,
"aa_end": null,
"aa_length": 444,
"cds_start": 1036,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 1094,
"cdna_end": null,
"cdna_length": 1562,
"mane_select": "NM_177987.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBB8",
"gene_hgnc_id": 20773,
"hgvs_c": "c.934C>T",
"hgvs_p": "p.Pro312Ser",
"transcript": "ENST00000564130.2",
"protein_id": "ENSP00000457610.1",
"transcript_support_level": 5,
"aa_start": 312,
"aa_end": null,
"aa_length": 410,
"cds_start": 934,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 1974,
"cdna_end": null,
"cdna_length": 2438,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBB8",
"gene_hgnc_id": 20773,
"hgvs_c": "c.925C>T",
"hgvs_p": "p.Pro309Ser",
"transcript": "ENST00000568866.5",
"protein_id": "ENSP00000457062.1",
"transcript_support_level": 5,
"aa_start": 309,
"aa_end": null,
"aa_length": 407,
"cds_start": 925,
"cds_end": null,
"cds_length": 1224,
"cdna_start": 964,
"cdna_end": null,
"cdna_length": 1367,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBB8",
"gene_hgnc_id": 20773,
"hgvs_c": "c.820C>T",
"hgvs_p": "p.Pro274Ser",
"transcript": "NM_001389618.1",
"protein_id": "NP_001376547.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 372,
"cds_start": 820,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 1662,
"cdna_end": null,
"cdna_length": 2126,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBB8",
"gene_hgnc_id": 20773,
"hgvs_c": "c.820C>T",
"hgvs_p": "p.Pro274Ser",
"transcript": "NM_001389619.1",
"protein_id": "NP_001376548.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 372,
"cds_start": 820,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 2067,
"cdna_end": null,
"cdna_length": 2531,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBB8",
"gene_hgnc_id": 20773,
"hgvs_c": "c.883C>T",
"hgvs_p": "p.Pro295Ser",
"transcript": "XM_047425177.1",
"protein_id": "XP_047281133.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 393,
"cds_start": 883,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 902,
"cdna_end": null,
"cdna_length": 1803,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBB8",
"gene_hgnc_id": 20773,
"hgvs_c": "c.700C>T",
"hgvs_p": "p.Pro234Ser",
"transcript": "XM_017016193.3",
"protein_id": "XP_016871682.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 332,
"cds_start": 700,
"cds_end": null,
"cds_length": 999,
"cdna_start": 793,
"cdna_end": null,
"cdna_length": 1257,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBB8",
"gene_hgnc_id": 20773,
"hgvs_c": "c.*699C>T",
"hgvs_p": null,
"transcript": "ENST00000561967.1",
"protein_id": "ENSP00000454878.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 119,
"cds_start": -4,
"cds_end": null,
"cds_length": 360,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1413,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBB8",
"gene_hgnc_id": 20773,
"hgvs_c": "c.*699C>T",
"hgvs_p": null,
"transcript": "ENST00000562809.1",
"protein_id": "ENSP00000456899.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 75,
"cds_start": -4,
"cds_end": null,
"cds_length": 228,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 820,
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBB8",
"gene_hgnc_id": 20773,
"hgvs_c": "n.*880C>T",
"hgvs_p": null,
"transcript": "ENST00000567466.1",
"protein_id": "ENSP00000454914.1",
"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": 1061,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TUBB8",
"gene_hgnc_id": 20773,
"dbsnp": "rs1834353968",
"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": 0.9549100399017334,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.424,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.7909,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.07,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 6.944,
"phylop100way_prediction": "Uncertain_significance",
"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": 7,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP2,PP3_Strong",
"acmg_by_gene": [
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PM2",
"PP2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000568584.6",
"gene_symbol": "TUBB8",
"hgnc_id": 20773,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,SD,AD",
"hgvs_c": "c.1036C>T",
"hgvs_p": "p.Pro346Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}