← Back to variant description
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: 8-115587043-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=115587043&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 115587043,
"ref": "C",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "ENST00000395715.8",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPS1",
"gene_hgnc_id": 12340,
"hgvs_c": "c.2658G>C",
"hgvs_p": "p.Ser886Ser",
"transcript": "NM_014112.5",
"protein_id": "NP_054831.2",
"transcript_support_level": null,
"aa_start": 886,
"aa_end": null,
"aa_length": 1294,
"cds_start": 2658,
"cds_end": null,
"cds_length": 3885,
"cdna_start": 3210,
"cdna_end": null,
"cdna_length": 9964,
"mane_select": "ENST00000395715.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPS1",
"gene_hgnc_id": 12340,
"hgvs_c": "c.2658G>C",
"hgvs_p": "p.Ser886Ser",
"transcript": "ENST00000395715.8",
"protein_id": "ENSP00000379065.3",
"transcript_support_level": 1,
"aa_start": 886,
"aa_end": null,
"aa_length": 1294,
"cds_start": 2658,
"cds_end": null,
"cds_length": 3885,
"cdna_start": 3210,
"cdna_end": null,
"cdna_length": 9964,
"mane_select": "NM_014112.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPS1",
"gene_hgnc_id": 12340,
"hgvs_c": "c.2619G>C",
"hgvs_p": "p.Ser873Ser",
"transcript": "ENST00000220888.9",
"protein_id": "ENSP00000220888.5",
"transcript_support_level": 1,
"aa_start": 873,
"aa_end": null,
"aa_length": 1281,
"cds_start": 2619,
"cds_end": null,
"cds_length": 3846,
"cdna_start": 2779,
"cdna_end": null,
"cdna_length": 5480,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPS1",
"gene_hgnc_id": 12340,
"hgvs_c": "c.2619G>C",
"hgvs_p": "p.Ser873Ser",
"transcript": "ENST00000519674.1",
"protein_id": "ENSP00000429174.1",
"transcript_support_level": 1,
"aa_start": 873,
"aa_end": null,
"aa_length": 902,
"cds_start": 2619,
"cds_end": null,
"cds_length": 2709,
"cdna_start": 2980,
"cdna_end": null,
"cdna_length": 3116,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPS1",
"gene_hgnc_id": 12340,
"hgvs_c": "c.2637G>C",
"hgvs_p": "p.Ser879Ser",
"transcript": "NM_001282903.3",
"protein_id": "NP_001269832.1",
"transcript_support_level": null,
"aa_start": 879,
"aa_end": null,
"aa_length": 1287,
"cds_start": 2637,
"cds_end": null,
"cds_length": 3864,
"cdna_start": 3196,
"cdna_end": null,
"cdna_length": 9950,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPS1",
"gene_hgnc_id": 12340,
"hgvs_c": "c.2631G>C",
"hgvs_p": "p.Ser877Ser",
"transcript": "NM_001282902.3",
"protein_id": "NP_001269831.1",
"transcript_support_level": null,
"aa_start": 877,
"aa_end": null,
"aa_length": 1285,
"cds_start": 2631,
"cds_end": null,
"cds_length": 3858,
"cdna_start": 2761,
"cdna_end": null,
"cdna_length": 9515,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPS1",
"gene_hgnc_id": 12340,
"hgvs_c": "c.2631G>C",
"hgvs_p": "p.Ser877Ser",
"transcript": "ENST00000520276.5",
"protein_id": "ENSP00000428680.1",
"transcript_support_level": 2,
"aa_start": 877,
"aa_end": null,
"aa_length": 1285,
"cds_start": 2631,
"cds_end": null,
"cds_length": 3858,
"cdna_start": 2755,
"cdna_end": null,
"cdna_length": 4083,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPS1",
"gene_hgnc_id": 12340,
"hgvs_c": "c.2619G>C",
"hgvs_p": "p.Ser873Ser",
"transcript": "NM_001330599.2",
"protein_id": "NP_001317528.1",
"transcript_support_level": null,
"aa_start": 873,
"aa_end": null,
"aa_length": 1281,
"cds_start": 2619,
"cds_end": null,
"cds_length": 3846,
"cdna_start": 3052,
"cdna_end": null,
"cdna_length": 9806,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPS1",
"gene_hgnc_id": 12340,
"hgvs_c": "c.2619G>C",
"hgvs_p": "p.Ser873Ser",
"transcript": "ENST00000640765.1",
"protein_id": "ENSP00000492037.1",
"transcript_support_level": 2,
"aa_start": 873,
"aa_end": null,
"aa_length": 1281,
"cds_start": 2619,
"cds_end": null,
"cds_length": 3846,
"cdna_start": 2760,
"cdna_end": null,
"cdna_length": 9514,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPS1",
"gene_hgnc_id": 12340,
"hgvs_c": "c.1881G>C",
"hgvs_p": "p.Ser627Ser",
"transcript": "ENST00000519076.5",
"protein_id": "ENSP00000428910.1",
"transcript_support_level": 5,
"aa_start": 627,
"aa_end": null,
"aa_length": 1035,
"cds_start": 1881,
"cds_end": null,
"cds_length": 3108,
"cdna_start": 1893,
"cdna_end": null,
"cdna_length": 3329,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPS1",
"gene_hgnc_id": 12340,
"hgvs_c": "c.2031G>C",
"hgvs_p": "p.Ser677Ser",
"transcript": "ENST00000517323.2",
"protein_id": "ENSP00000430803.2",
"transcript_support_level": 5,
"aa_start": 677,
"aa_end": null,
"aa_length": 690,
"cds_start": 2031,
"cds_end": null,
"cds_length": 2073,
"cdna_start": 2129,
"cdna_end": null,
"cdna_length": 2171,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TRPS1",
"gene_hgnc_id": 12340,
"dbsnp": "rs191525942",
"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": -0.7300000190734863,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"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": -0.73,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.903,
"phylop100way_prediction": "Benign",
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000395715.8",
"gene_symbol": "TRPS1",
"hgnc_id": 12340,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2658G>C",
"hgvs_p": "p.Ser886Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}