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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: 17-44853364-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=44853364&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 44853364,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000426333.7",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFTUD2",
"gene_hgnc_id": 30858,
"hgvs_c": "c.2493C>T",
"hgvs_p": "p.Tyr831Tyr",
"transcript": "NM_004247.4",
"protein_id": "NP_004238.3",
"transcript_support_level": null,
"aa_start": 831,
"aa_end": null,
"aa_length": 972,
"cds_start": 2493,
"cds_end": null,
"cds_length": 2919,
"cdna_start": 2574,
"cdna_end": null,
"cdna_length": 4326,
"mane_select": "ENST00000426333.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFTUD2",
"gene_hgnc_id": 30858,
"hgvs_c": "c.2493C>T",
"hgvs_p": "p.Tyr831Tyr",
"transcript": "ENST00000426333.7",
"protein_id": "ENSP00000392094.1",
"transcript_support_level": 1,
"aa_start": 831,
"aa_end": null,
"aa_length": 972,
"cds_start": 2493,
"cds_end": null,
"cds_length": 2919,
"cdna_start": 2574,
"cdna_end": null,
"cdna_length": 4326,
"mane_select": "NM_004247.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFTUD2",
"gene_hgnc_id": 30858,
"hgvs_c": "c.2493C>T",
"hgvs_p": "p.Tyr831Tyr",
"transcript": "NM_001258353.2",
"protein_id": "NP_001245282.1",
"transcript_support_level": null,
"aa_start": 831,
"aa_end": null,
"aa_length": 972,
"cds_start": 2493,
"cds_end": null,
"cds_length": 2919,
"cdna_start": 2891,
"cdna_end": null,
"cdna_length": 4643,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFTUD2",
"gene_hgnc_id": 30858,
"hgvs_c": "c.2493C>T",
"hgvs_p": "p.Tyr831Tyr",
"transcript": "ENST00000591382.5",
"protein_id": "ENSP00000467805.1",
"transcript_support_level": 2,
"aa_start": 831,
"aa_end": null,
"aa_length": 972,
"cds_start": 2493,
"cds_end": null,
"cds_length": 2919,
"cdna_start": 2891,
"cdna_end": null,
"cdna_length": 3675,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFTUD2",
"gene_hgnc_id": 30858,
"hgvs_c": "c.2463C>T",
"hgvs_p": "p.Tyr821Tyr",
"transcript": "NM_001258354.2",
"protein_id": "NP_001245283.1",
"transcript_support_level": null,
"aa_start": 821,
"aa_end": null,
"aa_length": 962,
"cds_start": 2463,
"cds_end": null,
"cds_length": 2889,
"cdna_start": 2544,
"cdna_end": null,
"cdna_length": 4296,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFTUD2",
"gene_hgnc_id": 30858,
"hgvs_c": "c.2463C>T",
"hgvs_p": "p.Tyr821Tyr",
"transcript": "ENST00000592576.5",
"protein_id": "ENSP00000465058.1",
"transcript_support_level": 2,
"aa_start": 821,
"aa_end": null,
"aa_length": 962,
"cds_start": 2463,
"cds_end": null,
"cds_length": 2889,
"cdna_start": 2530,
"cdna_end": null,
"cdna_length": 3364,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFTUD2",
"gene_hgnc_id": 30858,
"hgvs_c": "c.2388C>T",
"hgvs_p": "p.Tyr796Tyr",
"transcript": "NM_001142605.2",
"protein_id": "NP_001136077.1",
"transcript_support_level": null,
"aa_start": 796,
"aa_end": null,
"aa_length": 937,
"cds_start": 2388,
"cds_end": null,
"cds_length": 2814,
"cdna_start": 2465,
"cdna_end": null,
"cdna_length": 4217,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFTUD2",
"gene_hgnc_id": 30858,
"hgvs_c": "c.2388C>T",
"hgvs_p": "p.Tyr796Tyr",
"transcript": "ENST00000402521.7",
"protein_id": "ENSP00000385873.2",
"transcript_support_level": 2,
"aa_start": 796,
"aa_end": null,
"aa_length": 937,
"cds_start": 2388,
"cds_end": null,
"cds_length": 2814,
"cdna_start": 2465,
"cdna_end": null,
"cdna_length": 3045,
"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": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFTUD2",
"gene_hgnc_id": 30858,
"hgvs_c": "n.2788C>T",
"hgvs_p": null,
"transcript": "ENST00000586276.5",
"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": 3678,
"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": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFTUD2",
"gene_hgnc_id": 30858,
"hgvs_c": "n.2854C>T",
"hgvs_p": null,
"transcript": "ENST00000590367.5",
"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": 3638,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "EFTUD2",
"gene_hgnc_id": 30858,
"hgvs_c": "c.468+153C>T",
"hgvs_p": null,
"transcript": "ENST00000590124.5",
"protein_id": "ENSP00000467249.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 223,
"cds_start": -4,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 899,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "EFTUD2",
"gene_hgnc_id": 30858,
"hgvs_c": "n.312+153C>T",
"hgvs_p": null,
"transcript": "ENST00000589769.1",
"protein_id": "ENSP00000465051.1",
"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": 689,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "EFTUD2",
"gene_hgnc_id": 30858,
"hgvs_c": "n.1707+153C>T",
"hgvs_p": null,
"transcript": "ENST00000590977.5",
"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": 2422,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "EFTUD2",
"gene_hgnc_id": 30858,
"hgvs_c": "c.2466+153C>T",
"hgvs_p": null,
"transcript": "XM_047437084.1",
"protein_id": "XP_047293040.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 851,
"cds_start": -4,
"cds_end": null,
"cds_length": 2556,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2663,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "EFTUD2",
"gene_hgnc_id": 30858,
"dbsnp": "rs879253726",
"frequency_reference_population": 6.8406473e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84065e-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": -0.4699999988079071,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.4000000059604645,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.47,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.879,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.4,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000426333.7",
"gene_symbol": "EFTUD2",
"hgnc_id": 30858,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2493C>T",
"hgvs_p": "p.Tyr831Tyr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}