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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: 8-115619675-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=115619675&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 19,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "TRPS1",
"hgnc_id": 12340,
"hgvs_c": "c.423G>T",
"hgvs_p": "p.Pro141Pro",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -19,
"transcript": "NM_014112.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BA1",
"acmg_score": -19,
"allele_count_reference_population": 45534,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.43,
"chr": "8",
"clinvar_classification": "Benign",
"clinvar_disease": " type III,Trichorhinophalangeal dysplasia type I,Trichorhinophalangeal syndrome,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:4",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.4300000071525574,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1294,
"aa_ref": "P",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9964,
"cdna_start": 975,
"cds_end": null,
"cds_length": 3885,
"cds_start": 423,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_014112.5",
"gene_hgnc_id": 12340,
"gene_symbol": "TRPS1",
"hgvs_c": "c.423G>T",
"hgvs_p": "p.Pro141Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000395715.8",
"protein_coding": true,
"protein_id": "NP_054831.2",
"strand": false,
"transcript": "NM_014112.5",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1294,
"aa_ref": "P",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9964,
"cdna_start": 975,
"cds_end": null,
"cds_length": 3885,
"cds_start": 423,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000395715.8",
"gene_hgnc_id": 12340,
"gene_symbol": "TRPS1",
"hgvs_c": "c.423G>T",
"hgvs_p": "p.Pro141Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014112.5",
"protein_coding": true,
"protein_id": "ENSP00000379065.3",
"strand": false,
"transcript": "ENST00000395715.8",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1281,
"aa_ref": "P",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5480,
"cdna_start": 544,
"cds_end": null,
"cds_length": 3846,
"cds_start": 384,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000220888.9",
"gene_hgnc_id": 12340,
"gene_symbol": "TRPS1",
"hgvs_c": "c.384G>T",
"hgvs_p": "p.Pro128Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000220888.5",
"strand": false,
"transcript": "ENST00000220888.9",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 902,
"aa_ref": "P",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3116,
"cdna_start": 745,
"cds_end": null,
"cds_length": 2709,
"cds_start": 384,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000519674.1",
"gene_hgnc_id": 12340,
"gene_symbol": "TRPS1",
"hgvs_c": "c.384G>T",
"hgvs_p": "p.Pro128Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000429174.1",
"strand": false,
"transcript": "ENST00000519674.1",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1294,
"aa_ref": "P",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4642,
"cdna_start": 1080,
"cds_end": null,
"cds_length": 3885,
"cds_start": 423,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000917131.1",
"gene_hgnc_id": 12340,
"gene_symbol": "TRPS1",
"hgvs_c": "c.423G>T",
"hgvs_p": "p.Pro141Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587190.1",
"strand": false,
"transcript": "ENST00000917131.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1287,
"aa_ref": "P",
"aa_start": 134,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9950,
"cdna_start": 961,
"cds_end": null,
"cds_length": 3864,
"cds_start": 402,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001282903.3",
"gene_hgnc_id": 12340,
"gene_symbol": "TRPS1",
"hgvs_c": "c.402G>T",
"hgvs_p": "p.Pro134Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269832.1",
"strand": false,
"transcript": "NM_001282903.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1285,
"aa_ref": "P",
"aa_start": 132,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9515,
"cdna_start": 526,
"cds_end": null,
"cds_length": 3858,
"cds_start": 396,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001282902.3",
"gene_hgnc_id": 12340,
"gene_symbol": "TRPS1",
"hgvs_c": "c.396G>T",
"hgvs_p": "p.Pro132Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269831.1",
"strand": false,
"transcript": "NM_001282902.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1285,
"aa_ref": "P",
"aa_start": 132,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4083,
"cdna_start": 520,
"cds_end": null,
"cds_length": 3858,
"cds_start": 396,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000520276.5",
"gene_hgnc_id": 12340,
"gene_symbol": "TRPS1",
"hgvs_c": "c.396G>T",
"hgvs_p": "p.Pro132Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000428680.1",
"strand": false,
"transcript": "ENST00000520276.5",
"transcript_support_level": 2
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1281,
"aa_ref": "P",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9806,
"cdna_start": 817,
"cds_end": null,
"cds_length": 3846,
"cds_start": 384,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001330599.2",
"gene_hgnc_id": 12340,
"gene_symbol": "TRPS1",
"hgvs_c": "c.384G>T",
"hgvs_p": "p.Pro128Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317528.1",
"strand": false,
"transcript": "NM_001330599.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1281,
"aa_ref": "P",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9514,
"cdna_start": 525,
"cds_end": null,
"cds_length": 3846,
"cds_start": 384,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000640765.1",
"gene_hgnc_id": 12340,
"gene_symbol": "TRPS1",
"hgvs_c": "c.384G>T",
"hgvs_p": "p.Pro128Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000492037.1",
"strand": false,
"transcript": "ENST00000640765.1",
"transcript_support_level": 2
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1035,
"aa_ref": "P",
"aa_start": 82,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3329,
"cdna_start": 258,
"cds_end": null,
"cds_length": 3108,
"cds_start": 246,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000519076.5",
"gene_hgnc_id": 12340,
"gene_symbol": "TRPS1",
"hgvs_c": "c.246G>T",
"hgvs_p": "p.Pro82Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000428910.1",
"strand": false,
"transcript": "ENST00000519076.5",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 690,
"aa_ref": "P",
"aa_start": 132,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2171,
"cdna_start": 494,
"cds_end": null,
"cds_length": 2073,
"cds_start": 396,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000517323.2",
"gene_hgnc_id": 12340,
"gene_symbol": "TRPS1",
"hgvs_c": "c.396G>T",
"hgvs_p": "p.Pro132Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000430803.2",
"strand": false,
"transcript": "ENST00000517323.2",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 116,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 581,
"cdna_start": null,
"cds_end": null,
"cds_length": 351,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000395713.6",
"gene_hgnc_id": 12340,
"gene_symbol": "TRPS1",
"hgvs_c": "c.*72G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000379063.2",
"strand": true,
"transcript": "ENST00000395713.6",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 107,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 584,
"cdna_start": null,
"cds_end": null,
"cds_length": 324,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000519815.5",
"gene_hgnc_id": 12340,
"gene_symbol": "TRPS1",
"hgvs_c": "c.*99G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000430383.1",
"strand": true,
"transcript": "ENST00000519815.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 60,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 581,
"cdna_start": null,
"cds_end": null,
"cds_length": 185,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000422939.1",
"gene_hgnc_id": 12340,
"gene_symbol": "TRPS1",
"hgvs_c": "c.*238G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000405028.1",
"strand": true,
"transcript": "ENST00000422939.1",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs7823278",
"effect": "synonymous_variant",
"frequency_reference_population": 0.028211687,
"gene_hgnc_id": 12340,
"gene_symbol": "TRPS1",
"gnomad_exomes_ac": 24938,
"gnomad_exomes_af": 0.0170589,
"gnomad_exomes_homalt": 4181,
"gnomad_genomes_ac": 20596,
"gnomad_genomes_af": 0.135382,
"gnomad_genomes_homalt": 4548,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 8729,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Benign",
"phenotype_combined": "not specified|Trichorhinophalangeal syndrome, type III;Trichorhinophalangeal dysplasia type I|not provided",
"phylop100way_prediction": "Benign",
"phylop100way_score": 3.414,
"pos": 115619675,
"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_014112.5"
}
]
}