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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: X-74529316-GCTT-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=74529316&ref=GCTT&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 74529316,
"ref": "GCTT",
"alt": "G",
"effect": "conservative_inframe_deletion",
"transcript": "NM_006517.5",
"consequences": [
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A2",
"gene_hgnc_id": 10923,
"hgvs_c": "c.1279_1281delTTC",
"hgvs_p": "p.Phe427del",
"transcript": "NM_006517.5",
"protein_id": "NP_006508.2",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 539,
"cds_start": 1279,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000587091.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006517.5"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A2",
"gene_hgnc_id": 10923,
"hgvs_c": "c.1279_1281delTTC",
"hgvs_p": "p.Phe427del",
"transcript": "ENST00000587091.6",
"protein_id": "ENSP00000465734.1",
"transcript_support_level": 1,
"aa_start": 427,
"aa_end": null,
"aa_length": 539,
"cds_start": 1279,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006517.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000587091.6"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A2",
"gene_hgnc_id": 10923,
"hgvs_c": "c.1393_1395delTTC",
"hgvs_p": "p.Phe465del",
"transcript": "ENST00000878592.1",
"protein_id": "ENSP00000548651.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 577,
"cds_start": 1393,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878592.1"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A2",
"gene_hgnc_id": 10923,
"hgvs_c": "c.1357_1359delTTC",
"hgvs_p": "p.Phe453del",
"transcript": "ENST00000922847.1",
"protein_id": "ENSP00000592906.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 565,
"cds_start": 1357,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922847.1"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A2",
"gene_hgnc_id": 10923,
"hgvs_c": "c.1345_1347delTTC",
"hgvs_p": "p.Phe449del",
"transcript": "ENST00000922843.1",
"protein_id": "ENSP00000592902.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 561,
"cds_start": 1345,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922843.1"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A2",
"gene_hgnc_id": 10923,
"hgvs_c": "c.1273_1275delTTC",
"hgvs_p": "p.Phe425del",
"transcript": "ENST00000878593.1",
"protein_id": "ENSP00000548652.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 537,
"cds_start": 1273,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878593.1"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A2",
"gene_hgnc_id": 10923,
"hgvs_c": "c.1189_1191delTTC",
"hgvs_p": "p.Phe397del",
"transcript": "ENST00000878591.1",
"protein_id": "ENSP00000548650.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 509,
"cds_start": 1189,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878591.1"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A2",
"gene_hgnc_id": 10923,
"hgvs_c": "c.1147_1149delTTC",
"hgvs_p": "p.Phe383del",
"transcript": "ENST00000961799.1",
"protein_id": "ENSP00000631858.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 495,
"cds_start": 1147,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961799.1"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A2",
"gene_hgnc_id": 10923,
"hgvs_c": "c.1135_1137delTTC",
"hgvs_p": "p.Phe379del",
"transcript": "ENST00000922844.1",
"protein_id": "ENSP00000592903.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 491,
"cds_start": 1135,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922844.1"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A2",
"gene_hgnc_id": 10923,
"hgvs_c": "c.1102_1104delTTC",
"hgvs_p": "p.Phe368del",
"transcript": "ENST00000922846.1",
"protein_id": "ENSP00000592905.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 480,
"cds_start": 1102,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922846.1"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A2",
"gene_hgnc_id": 10923,
"hgvs_c": "c.1045_1047delTTC",
"hgvs_p": "p.Phe349del",
"transcript": "ENST00000878589.1",
"protein_id": "ENSP00000548648.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 461,
"cds_start": 1045,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878589.1"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A2",
"gene_hgnc_id": 10923,
"hgvs_c": "c.997_999delTTC",
"hgvs_p": "p.Phe333del",
"transcript": "ENST00000878588.1",
"protein_id": "ENSP00000548647.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 445,
"cds_start": 997,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878588.1"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A2",
"gene_hgnc_id": 10923,
"hgvs_c": "c.853_855delTTC",
"hgvs_p": "p.Phe285del",
"transcript": "ENST00000878590.1",
"protein_id": "ENSP00000548649.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 397,
"cds_start": 853,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878590.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SLC16A2",
"gene_hgnc_id": 10923,
"hgvs_c": "c.610-2012_610-2010delTTC",
"hgvs_p": null,
"transcript": "ENST00000590447.1",
"protein_id": "ENSP00000466213.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 228,
"cds_start": null,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000590447.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC16A2",
"gene_hgnc_id": 10923,
"hgvs_c": "c.431-2012_431-2010delTTC",
"hgvs_p": null,
"transcript": "ENST00000922845.1",
"protein_id": "ENSP00000592904.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 216,
"cds_start": null,
"cds_end": null,
"cds_length": 651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922845.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A2",
"gene_hgnc_id": 10923,
"hgvs_c": "n.*980_*982delTTC",
"hgvs_p": null,
"transcript": "ENST00000636771.1",
"protein_id": "ENSP00000490445.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000636771.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A2",
"gene_hgnc_id": 10923,
"hgvs_c": "n.*980_*982delTTC",
"hgvs_p": null,
"transcript": "ENST00000636771.1",
"protein_id": "ENSP00000490445.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000636771.1"
}
],
"gene_symbol": "SLC16A2",
"gene_hgnc_id": 10923,
"dbsnp": "rs113994164",
"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": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 5.947,
"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": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PM2,PM4_Supporting",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM1",
"PM2",
"PM4_Supporting"
],
"verdict": "Uncertain_significance",
"transcript": "NM_006517.5",
"gene_symbol": "SLC16A2",
"hgnc_id": 10923,
"effects": [
"conservative_inframe_deletion"
],
"inheritance_mode": "XL",
"hgvs_c": "c.1279_1281delTTC",
"hgvs_p": "p.Phe427del"
}
],
"clinvar_disease": "Allan-Herndon-Dudley syndrome",
"clinvar_classification": "not provided",
"clinvar_review_status": "no classification provided",
"clinvar_submissions_summary": "O:1",
"phenotype_combined": "Allan-Herndon-Dudley syndrome",
"pathogenicity_classification_combined": "not provided",
"custom_annotations": null
}
],
"message": null
}