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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: 7-2652204-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=2652204&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "TTYH3",
"hgnc_id": 22222,
"hgvs_c": "c.889C>T",
"hgvs_p": "p.Leu297Leu",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -3,
"transcript": "NM_025250.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_score": -3,
"allele_count_reference_population": 4,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.57,
"chr": "7",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.5699999928474426,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 523,
"aa_ref": "L",
"aa_start": 297,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4805,
"cdna_start": 1059,
"cds_end": null,
"cds_length": 1572,
"cds_start": 889,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_025250.3",
"gene_hgnc_id": 22222,
"gene_symbol": "TTYH3",
"hgvs_c": "c.889C>T",
"hgvs_p": "p.Leu297Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000258796.12",
"protein_coding": true,
"protein_id": "NP_079526.1",
"strand": true,
"transcript": "NM_025250.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 523,
"aa_ref": "L",
"aa_start": 297,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4805,
"cdna_start": 1059,
"cds_end": null,
"cds_length": 1572,
"cds_start": 889,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000258796.12",
"gene_hgnc_id": 22222,
"gene_symbol": "TTYH3",
"hgvs_c": "c.889C>T",
"hgvs_p": "p.Leu297Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_025250.3",
"protein_coding": true,
"protein_id": "ENSP00000258796.7",
"strand": true,
"transcript": "ENST00000258796.12",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 626,
"aa_ref": "L",
"aa_start": 400,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5152,
"cdna_start": 1407,
"cds_end": null,
"cds_length": 1881,
"cds_start": 1198,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000913086.1",
"gene_hgnc_id": 22222,
"gene_symbol": "TTYH3",
"hgvs_c": "c.1198C>T",
"hgvs_p": "p.Leu400Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583145.1",
"strand": true,
"transcript": "ENST00000913086.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 557,
"aa_ref": "L",
"aa_start": 297,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4948,
"cdna_start": 1100,
"cds_end": null,
"cds_length": 1674,
"cds_start": 889,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000913085.1",
"gene_hgnc_id": 22222,
"gene_symbol": "TTYH3",
"hgvs_c": "c.889C>T",
"hgvs_p": "p.Leu297Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583144.1",
"strand": true,
"transcript": "ENST00000913085.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 544,
"aa_ref": "L",
"aa_start": 318,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4929,
"cdna_start": 1183,
"cds_end": null,
"cds_length": 1635,
"cds_start": 952,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000913080.1",
"gene_hgnc_id": 22222,
"gene_symbol": "TTYH3",
"hgvs_c": "c.952C>T",
"hgvs_p": "p.Leu318Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583139.1",
"strand": true,
"transcript": "ENST00000913080.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 539,
"aa_ref": "L",
"aa_start": 297,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4915,
"cdna_start": 1121,
"cds_end": null,
"cds_length": 1620,
"cds_start": 889,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000913079.1",
"gene_hgnc_id": 22222,
"gene_symbol": "TTYH3",
"hgvs_c": "c.889C>T",
"hgvs_p": "p.Leu297Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583138.1",
"strand": true,
"transcript": "ENST00000913079.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 538,
"aa_ref": "L",
"aa_start": 312,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4894,
"cdna_start": 1134,
"cds_end": null,
"cds_length": 1617,
"cds_start": 934,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000913083.1",
"gene_hgnc_id": 22222,
"gene_symbol": "TTYH3",
"hgvs_c": "c.934C>T",
"hgvs_p": "p.Leu312Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583142.1",
"strand": true,
"transcript": "ENST00000913083.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 526,
"aa_ref": "L",
"aa_start": 297,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4931,
"cdna_start": 1084,
"cds_end": null,
"cds_length": 1581,
"cds_start": 889,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000429448.2",
"gene_hgnc_id": 22222,
"gene_symbol": "TTYH3",
"hgvs_c": "c.889C>T",
"hgvs_p": "p.Leu297Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000413757.2",
"strand": true,
"transcript": "ENST00000429448.2",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 522,
"aa_ref": "L",
"aa_start": 297,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4844,
"cdna_start": 1104,
"cds_end": null,
"cds_length": 1569,
"cds_start": 889,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000969081.1",
"gene_hgnc_id": 22222,
"gene_symbol": "TTYH3",
"hgvs_c": "c.889C>T",
"hgvs_p": "p.Leu297Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639140.1",
"strand": true,
"transcript": "ENST00000969081.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 521,
"aa_ref": "L",
"aa_start": 295,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4837,
"cdna_start": 1091,
"cds_end": null,
"cds_length": 1566,
"cds_start": 883,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000913087.1",
"gene_hgnc_id": 22222,
"gene_symbol": "TTYH3",
"hgvs_c": "c.883C>T",
"hgvs_p": "p.Leu295Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583146.1",
"strand": true,
"transcript": "ENST00000913087.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 508,
"aa_ref": "L",
"aa_start": 297,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4793,
"cdna_start": 1097,
"cds_end": null,
"cds_length": 1527,
"cds_start": 889,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000913088.1",
"gene_hgnc_id": 22222,
"gene_symbol": "TTYH3",
"hgvs_c": "c.889C>T",
"hgvs_p": "p.Leu297Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583147.1",
"strand": true,
"transcript": "ENST00000913088.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 492,
"aa_ref": "L",
"aa_start": 297,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4779,
"cdna_start": 1126,
"cds_end": null,
"cds_length": 1479,
"cds_start": 889,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000913078.1",
"gene_hgnc_id": 22222,
"gene_symbol": "TTYH3",
"hgvs_c": "c.889C>T",
"hgvs_p": "p.Leu297Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583137.1",
"strand": true,
"transcript": "ENST00000913078.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 492,
"aa_ref": "L",
"aa_start": 297,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4769,
"cdna_start": 1116,
"cds_end": null,
"cds_length": 1479,
"cds_start": 889,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000913082.1",
"gene_hgnc_id": 22222,
"gene_symbol": "TTYH3",
"hgvs_c": "c.889C>T",
"hgvs_p": "p.Leu297Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583141.1",
"strand": true,
"transcript": "ENST00000913082.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 491,
"aa_ref": "L",
"aa_start": 265,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4537,
"cdna_start": 793,
"cds_end": null,
"cds_length": 1476,
"cds_start": 793,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000407643.5",
"gene_hgnc_id": 22222,
"gene_symbol": "TTYH3",
"hgvs_c": "c.793C>T",
"hgvs_p": "p.Leu265Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000385316.1",
"strand": true,
"transcript": "ENST00000407643.5",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 465,
"aa_ref": "L",
"aa_start": 297,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4692,
"cdna_start": 1120,
"cds_end": null,
"cds_length": 1398,
"cds_start": 889,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000913081.1",
"gene_hgnc_id": 22222,
"gene_symbol": "TTYH3",
"hgvs_c": "c.889C>T",
"hgvs_p": "p.Leu297Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583140.1",
"strand": true,
"transcript": "ENST00000913081.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 460,
"aa_ref": "L",
"aa_start": 265,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4659,
"cdna_start": 1006,
"cds_end": null,
"cds_length": 1383,
"cds_start": 793,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000913084.1",
"gene_hgnc_id": 22222,
"gene_symbol": "TTYH3",
"hgvs_c": "c.793C>T",
"hgvs_p": "p.Leu265Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583143.1",
"strand": true,
"transcript": "ENST00000913084.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 352,
"aa_ref": "L",
"aa_start": 126,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4263,
"cdna_start": 519,
"cds_end": null,
"cds_length": 1059,
"cds_start": 376,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000403167.5",
"gene_hgnc_id": 22222,
"gene_symbol": "TTYH3",
"hgvs_c": "c.376C>T",
"hgvs_p": "p.Leu126Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000385015.1",
"strand": true,
"transcript": "ENST00000403167.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 224,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3880,
"cdna_start": null,
"cds_end": null,
"cds_length": 675,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000913089.1",
"gene_hgnc_id": 22222,
"gene_symbol": "TTYH3",
"hgvs_c": "c.124-3888C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583148.1",
"strand": true,
"transcript": "ENST00000913089.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs138174391",
"effect": "synonymous_variant",
"frequency_reference_population": 0.000002737907,
"gene_hgnc_id": 22222,
"gene_symbol": "TTYH3",
"gnomad_exomes_ac": 4,
"gnomad_exomes_af": 0.00000273791,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 1,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 2.014,
"pos": 2652204,
"ref": "C",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_025250.3"
}
]
}