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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: 14-103965511-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=103965511&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 103965511,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_153046.3",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD9",
"gene_hgnc_id": 20122,
"hgvs_c": "c.599G>C",
"hgvs_p": "p.Ser200Thr",
"transcript": "NM_153046.3",
"protein_id": "NP_694591.2",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 1382,
"cds_start": 599,
"cds_end": null,
"cds_length": 4149,
"cdna_start": 653,
"cdna_end": null,
"cdna_length": 4788,
"mane_select": "ENST00000409874.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD9",
"gene_hgnc_id": 20122,
"hgvs_c": "c.599G>C",
"hgvs_p": "p.Ser200Thr",
"transcript": "ENST00000409874.9",
"protein_id": "ENSP00000387303.4",
"transcript_support_level": 5,
"aa_start": 200,
"aa_end": null,
"aa_length": 1382,
"cds_start": 599,
"cds_end": null,
"cds_length": 4149,
"cdna_start": 653,
"cdna_end": null,
"cdna_length": 4788,
"mane_select": "NM_153046.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD9",
"gene_hgnc_id": 20122,
"hgvs_c": "c.599G>C",
"hgvs_p": "p.Ser200Thr",
"transcript": "XM_006720019.4",
"protein_id": "XP_006720082.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 1363,
"cds_start": 599,
"cds_end": null,
"cds_length": 4092,
"cdna_start": 653,
"cdna_end": null,
"cdna_length": 4861,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD9",
"gene_hgnc_id": 20122,
"hgvs_c": "c.599G>C",
"hgvs_p": "p.Ser200Thr",
"transcript": "XM_006720020.4",
"protein_id": "XP_006720083.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 1355,
"cds_start": 599,
"cds_end": null,
"cds_length": 4068,
"cdna_start": 653,
"cdna_end": null,
"cdna_length": 4707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD9",
"gene_hgnc_id": 20122,
"hgvs_c": "c.599G>C",
"hgvs_p": "p.Ser200Thr",
"transcript": "XM_011536397.3",
"protein_id": "XP_011534699.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 1347,
"cds_start": 599,
"cds_end": null,
"cds_length": 4044,
"cdna_start": 653,
"cdna_end": null,
"cdna_length": 4683,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD9",
"gene_hgnc_id": 20122,
"hgvs_c": "c.485G>C",
"hgvs_p": "p.Ser162Thr",
"transcript": "XM_011536398.4",
"protein_id": "XP_011534700.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 1344,
"cds_start": 485,
"cds_end": null,
"cds_length": 4035,
"cdna_start": 502,
"cdna_end": null,
"cdna_length": 4637,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD9",
"gene_hgnc_id": 20122,
"hgvs_c": "c.599G>C",
"hgvs_p": "p.Ser200Thr",
"transcript": "XM_005267309.5",
"protein_id": "XP_005267366.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 1330,
"cds_start": 599,
"cds_end": null,
"cds_length": 3993,
"cdna_start": 653,
"cdna_end": null,
"cdna_length": 4632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD9",
"gene_hgnc_id": 20122,
"hgvs_c": "c.599G>C",
"hgvs_p": "p.Ser200Thr",
"transcript": "XM_047430909.1",
"protein_id": "XP_047286865.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 1303,
"cds_start": 599,
"cds_end": null,
"cds_length": 3912,
"cdna_start": 653,
"cdna_end": null,
"cdna_length": 4551,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD9",
"gene_hgnc_id": 20122,
"hgvs_c": "c.599G>C",
"hgvs_p": "p.Ser200Thr",
"transcript": "XM_011536400.3",
"protein_id": "XP_011534702.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 1295,
"cds_start": 599,
"cds_end": null,
"cds_length": 3888,
"cdna_start": 653,
"cdna_end": null,
"cdna_length": 4527,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD9",
"gene_hgnc_id": 20122,
"hgvs_c": "c.599G>C",
"hgvs_p": "p.Ser200Thr",
"transcript": "XM_047430910.1",
"protein_id": "XP_047286866.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 1295,
"cds_start": 599,
"cds_end": null,
"cds_length": 3888,
"cdna_start": 653,
"cdna_end": null,
"cdna_length": 4527,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD9",
"gene_hgnc_id": 20122,
"hgvs_c": "c.485G>C",
"hgvs_p": "p.Ser162Thr",
"transcript": "XM_047430911.1",
"protein_id": "XP_047286867.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 1292,
"cds_start": 485,
"cds_end": null,
"cds_length": 3879,
"cdna_start": 502,
"cdna_end": null,
"cdna_length": 4481,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD9",
"gene_hgnc_id": 20122,
"hgvs_c": "c.599G>C",
"hgvs_p": "p.Ser200Thr",
"transcript": "XM_047430912.1",
"protein_id": "XP_047286868.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 1268,
"cds_start": 599,
"cds_end": null,
"cds_length": 3807,
"cdna_start": 653,
"cdna_end": null,
"cdna_length": 4446,
"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": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD9",
"gene_hgnc_id": 20122,
"hgvs_c": "n.474G>C",
"hgvs_p": null,
"transcript": "ENST00000554571.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 637,
"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": "TDRD9",
"gene_hgnc_id": 20122,
"hgvs_c": "n.*30G>C",
"hgvs_p": null,
"transcript": "ENST00000496087.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TDRD9",
"gene_hgnc_id": 20122,
"dbsnp": "rs936600145",
"frequency_reference_population": 7.8319823e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 7.83198e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.299776554107666,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.164,
"revel_prediction": "Benign",
"alphamissense_score": 0.2238,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.727,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.06,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_153046.3",
"gene_symbol": "TDRD9",
"hgnc_id": 20122,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.599G>C",
"hgvs_p": "p.Ser200Thr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}