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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: 16-27807538-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=27807538&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 27807538,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001323900.2",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSG1L",
"gene_hgnc_id": 28283,
"hgvs_c": "c.847G>A",
"hgvs_p": "p.Gly283Arg",
"transcript": "NM_001109763.2",
"protein_id": "NP_001103233.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 331,
"cds_start": 847,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000447459.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001109763.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSG1L",
"gene_hgnc_id": 28283,
"hgvs_c": "c.847G>A",
"hgvs_p": "p.Gly283Arg",
"transcript": "ENST00000447459.7",
"protein_id": "ENSP00000394954.2",
"transcript_support_level": 2,
"aa_start": 283,
"aa_end": null,
"aa_length": 331,
"cds_start": 847,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001109763.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000447459.7"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSG1L",
"gene_hgnc_id": 28283,
"hgvs_c": "c.694G>A",
"hgvs_p": "p.Gly232Arg",
"transcript": "ENST00000395724.7",
"protein_id": "ENSP00000379074.3",
"transcript_support_level": 1,
"aa_start": 232,
"aa_end": null,
"aa_length": 280,
"cds_start": 694,
"cds_end": null,
"cds_length": 843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395724.7"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSG1L",
"gene_hgnc_id": 28283,
"hgvs_c": "c.436G>A",
"hgvs_p": "p.Gly146Arg",
"transcript": "ENST00000569166.1",
"protein_id": "ENSP00000454880.1",
"transcript_support_level": 1,
"aa_start": 146,
"aa_end": null,
"aa_length": 194,
"cds_start": 436,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000569166.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSG1L",
"gene_hgnc_id": 28283,
"hgvs_c": "c.382G>A",
"hgvs_p": "p.Gly128Arg",
"transcript": "ENST00000380897.7",
"protein_id": "ENSP00000370282.3",
"transcript_support_level": 1,
"aa_start": 128,
"aa_end": null,
"aa_length": 176,
"cds_start": 382,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380897.7"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSG1L",
"gene_hgnc_id": 28283,
"hgvs_c": "c.901G>A",
"hgvs_p": "p.Gly301Arg",
"transcript": "NM_001323900.2",
"protein_id": "NP_001310829.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 349,
"cds_start": 901,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323900.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSG1L",
"gene_hgnc_id": 28283,
"hgvs_c": "c.748G>A",
"hgvs_p": "p.Gly250Arg",
"transcript": "ENST00000951031.1",
"protein_id": "ENSP00000621090.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 298,
"cds_start": 748,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951031.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSG1L",
"gene_hgnc_id": 28283,
"hgvs_c": "c.694G>A",
"hgvs_p": "p.Gly232Arg",
"transcript": "NM_001323901.2",
"protein_id": "NP_001310830.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 280,
"cds_start": 694,
"cds_end": null,
"cds_length": 843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323901.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSG1L",
"gene_hgnc_id": 28283,
"hgvs_c": "c.679G>A",
"hgvs_p": "p.Gly227Arg",
"transcript": "ENST00000898876.1",
"protein_id": "ENSP00000568935.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 275,
"cds_start": 679,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898876.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSG1L",
"gene_hgnc_id": 28283,
"hgvs_c": "c.526G>A",
"hgvs_p": "p.Gly176Arg",
"transcript": "ENST00000951030.1",
"protein_id": "ENSP00000621089.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 224,
"cds_start": 526,
"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": "ENST00000951030.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSG1L",
"gene_hgnc_id": 28283,
"hgvs_c": "c.382G>A",
"hgvs_p": "p.Gly128Arg",
"transcript": "NM_144675.3",
"protein_id": "NP_653276.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 176,
"cds_start": 382,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_144675.3"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSG1L",
"gene_hgnc_id": 28283,
"hgvs_c": "c.847G>A",
"hgvs_p": "p.Gly283Arg",
"transcript": "XM_011545750.3",
"protein_id": "XP_011544052.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 341,
"cds_start": 847,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011545750.3"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSG1L",
"gene_hgnc_id": 28283,
"hgvs_c": "c.679G>A",
"hgvs_p": "p.Gly227Arg",
"transcript": "XM_011545751.3",
"protein_id": "XP_011544053.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 285,
"cds_start": 679,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011545751.3"
}
],
"gene_symbol": "GSG1L",
"gene_hgnc_id": 28283,
"dbsnp": "rs201172768",
"frequency_reference_population": 0.00009551169,
"hom_count_reference_population": 0,
"allele_count_reference_population": 154,
"gnomad_exomes_af": 0.0000924525,
"gnomad_genomes_af": 0.00012487,
"gnomad_exomes_ac": 135,
"gnomad_genomes_ac": 19,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.052613139152526855,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.047,
"revel_prediction": "Benign",
"alphamissense_score": 0.0884,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.58,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.145,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001323900.2",
"gene_symbol": "GSG1L",
"hgnc_id": 28283,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.901G>A",
"hgvs_p": "p.Gly301Arg"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}