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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: 7-2646940-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=2646940&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 2646940,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_025250.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTYH3",
"gene_hgnc_id": 22222,
"hgvs_c": "c.211C>A",
"hgvs_p": "p.Arg71Arg",
"transcript": "NM_025250.3",
"protein_id": "NP_079526.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 523,
"cds_start": 211,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000258796.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_025250.3"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTYH3",
"gene_hgnc_id": 22222,
"hgvs_c": "c.211C>A",
"hgvs_p": "p.Arg71Arg",
"transcript": "ENST00000258796.12",
"protein_id": "ENSP00000258796.7",
"transcript_support_level": 1,
"aa_start": 71,
"aa_end": null,
"aa_length": 523,
"cds_start": 211,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_025250.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000258796.12"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTYH3",
"gene_hgnc_id": 22222,
"hgvs_c": "c.520C>A",
"hgvs_p": "p.Arg174Arg",
"transcript": "ENST00000913086.1",
"protein_id": "ENSP00000583145.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 626,
"cds_start": 520,
"cds_end": null,
"cds_length": 1881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913086.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTYH3",
"gene_hgnc_id": 22222,
"hgvs_c": "c.211C>A",
"hgvs_p": "p.Arg71Arg",
"transcript": "ENST00000913085.1",
"protein_id": "ENSP00000583144.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 557,
"cds_start": 211,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913085.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTYH3",
"gene_hgnc_id": 22222,
"hgvs_c": "c.211C>A",
"hgvs_p": "p.Arg71Arg",
"transcript": "ENST00000913080.1",
"protein_id": "ENSP00000583139.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 544,
"cds_start": 211,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913080.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTYH3",
"gene_hgnc_id": 22222,
"hgvs_c": "c.211C>A",
"hgvs_p": "p.Arg71Arg",
"transcript": "ENST00000913079.1",
"protein_id": "ENSP00000583138.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 539,
"cds_start": 211,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913079.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTYH3",
"gene_hgnc_id": 22222,
"hgvs_c": "c.211C>A",
"hgvs_p": "p.Arg71Arg",
"transcript": "ENST00000913083.1",
"protein_id": "ENSP00000583142.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 538,
"cds_start": 211,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913083.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTYH3",
"gene_hgnc_id": 22222,
"hgvs_c": "c.211C>A",
"hgvs_p": "p.Arg71Arg",
"transcript": "ENST00000429448.2",
"protein_id": "ENSP00000413757.2",
"transcript_support_level": 2,
"aa_start": 71,
"aa_end": null,
"aa_length": 526,
"cds_start": 211,
"cds_end": null,
"cds_length": 1581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000429448.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTYH3",
"gene_hgnc_id": 22222,
"hgvs_c": "c.211C>A",
"hgvs_p": "p.Arg71Arg",
"transcript": "ENST00000969081.1",
"protein_id": "ENSP00000639140.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 522,
"cds_start": 211,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969081.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTYH3",
"gene_hgnc_id": 22222,
"hgvs_c": "c.211C>A",
"hgvs_p": "p.Arg71Arg",
"transcript": "ENST00000913087.1",
"protein_id": "ENSP00000583146.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 521,
"cds_start": 211,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913087.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTYH3",
"gene_hgnc_id": 22222,
"hgvs_c": "c.211C>A",
"hgvs_p": "p.Arg71Arg",
"transcript": "ENST00000913088.1",
"protein_id": "ENSP00000583147.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 508,
"cds_start": 211,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913088.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTYH3",
"gene_hgnc_id": 22222,
"hgvs_c": "c.211C>A",
"hgvs_p": "p.Arg71Arg",
"transcript": "ENST00000913078.1",
"protein_id": "ENSP00000583137.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 492,
"cds_start": 211,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913078.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTYH3",
"gene_hgnc_id": 22222,
"hgvs_c": "c.211C>A",
"hgvs_p": "p.Arg71Arg",
"transcript": "ENST00000913082.1",
"protein_id": "ENSP00000583141.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 492,
"cds_start": 211,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913082.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTYH3",
"gene_hgnc_id": 22222,
"hgvs_c": "c.211C>A",
"hgvs_p": "p.Arg71Arg",
"transcript": "ENST00000407643.5",
"protein_id": "ENSP00000385316.1",
"transcript_support_level": 5,
"aa_start": 71,
"aa_end": null,
"aa_length": 491,
"cds_start": 211,
"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": "ENST00000407643.5"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTYH3",
"gene_hgnc_id": 22222,
"hgvs_c": "c.211C>A",
"hgvs_p": "p.Arg71Arg",
"transcript": "ENST00000913081.1",
"protein_id": "ENSP00000583140.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 465,
"cds_start": 211,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913081.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTYH3",
"gene_hgnc_id": 22222,
"hgvs_c": "c.211C>A",
"hgvs_p": "p.Arg71Arg",
"transcript": "ENST00000913084.1",
"protein_id": "ENSP00000583143.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 460,
"cds_start": 211,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913084.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTYH3",
"gene_hgnc_id": 22222,
"hgvs_c": "c.232C>A",
"hgvs_p": "p.Arg78Arg",
"transcript": "ENST00000400376.2",
"protein_id": "ENSP00000383227.2",
"transcript_support_level": 4,
"aa_start": 78,
"aa_end": null,
"aa_length": 115,
"cds_start": 232,
"cds_end": null,
"cds_length": 349,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000400376.2"
},
{
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TTYH3",
"gene_hgnc_id": 22222,
"hgvs_c": "c.124-9152C>A",
"hgvs_p": null,
"transcript": "ENST00000913089.1",
"protein_id": "ENSP00000583148.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 224,
"cds_start": null,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913089.1"
}
],
"gene_symbol": "TTYH3",
"gene_hgnc_id": 22222,
"dbsnp": "rs764868343",
"frequency_reference_population": 6.903074e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.90307e-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": -0.30000001192092896,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.800000011920929,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.3,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.759,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.8,
"spliceai_max_prediction": "Pathogenic",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_025250.3",
"gene_symbol": "TTYH3",
"hgnc_id": 22222,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.211C>A",
"hgvs_p": "p.Arg71Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}