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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: 6-41927395-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=41927395&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 41927395,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_004053.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BYSL",
"gene_hgnc_id": 1157,
"hgvs_c": "c.290G>A",
"hgvs_p": "p.Gly97Glu",
"transcript": "NM_004053.4",
"protein_id": "NP_004044.3",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 437,
"cds_start": 290,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 354,
"cdna_end": null,
"cdna_length": 1718,
"mane_select": "ENST00000230340.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004053.4"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BYSL",
"gene_hgnc_id": 1157,
"hgvs_c": "c.290G>A",
"hgvs_p": "p.Gly97Glu",
"transcript": "ENST00000230340.9",
"protein_id": "ENSP00000230340.4",
"transcript_support_level": 1,
"aa_start": 97,
"aa_end": null,
"aa_length": 437,
"cds_start": 290,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 354,
"cdna_end": null,
"cdna_length": 1718,
"mane_select": "NM_004053.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000230340.9"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BYSL",
"gene_hgnc_id": 1157,
"hgvs_c": "c.305G>A",
"hgvs_p": "p.Gly102Glu",
"transcript": "ENST00000920333.1",
"protein_id": "ENSP00000590392.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 442,
"cds_start": 305,
"cds_end": null,
"cds_length": 1329,
"cdna_start": 369,
"cdna_end": null,
"cdna_length": 1734,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920333.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BYSL",
"gene_hgnc_id": 1157,
"hgvs_c": "c.290G>A",
"hgvs_p": "p.Gly97Glu",
"transcript": "ENST00000715726.2",
"protein_id": "ENSP00000520508.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 437,
"cds_start": 290,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 624,
"cdna_end": null,
"cdna_length": 1992,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000715726.2"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BYSL",
"gene_hgnc_id": 1157,
"hgvs_c": "c.290G>A",
"hgvs_p": "p.Gly97Glu",
"transcript": "ENST00000920332.1",
"protein_id": "ENSP00000590391.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 415,
"cds_start": 290,
"cds_end": null,
"cds_length": 1248,
"cdna_start": 381,
"cdna_end": null,
"cdna_length": 1675,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920332.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BYSL",
"gene_hgnc_id": 1157,
"hgvs_c": "c.290G>A",
"hgvs_p": "p.Gly97Glu",
"transcript": "ENST00000920334.1",
"protein_id": "ENSP00000590393.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 346,
"cds_start": 290,
"cds_end": null,
"cds_length": 1041,
"cdna_start": 358,
"cdna_end": null,
"cdna_length": 1445,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920334.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BYSL",
"gene_hgnc_id": 1157,
"hgvs_c": "c.290G>A",
"hgvs_p": "p.Gly97Glu",
"transcript": "ENST00000920331.1",
"protein_id": "ENSP00000590390.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 337,
"cds_start": 290,
"cds_end": null,
"cds_length": 1014,
"cdna_start": 624,
"cdna_end": null,
"cdna_length": 1688,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920331.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BYSL",
"gene_hgnc_id": 1157,
"hgvs_c": "c.44G>A",
"hgvs_p": "p.Gly15Glu",
"transcript": "XM_047419281.1",
"protein_id": "XP_047275237.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 355,
"cds_start": 44,
"cds_end": null,
"cds_length": 1068,
"cdna_start": 129,
"cdna_end": null,
"cdna_length": 1493,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419281.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BYSL",
"gene_hgnc_id": 1157,
"hgvs_c": "n.303G>A",
"hgvs_p": null,
"transcript": "ENST00000475702.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 670,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000475702.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BYSL",
"gene_hgnc_id": 1157,
"hgvs_c": "n.290G>A",
"hgvs_p": null,
"transcript": "ENST00000489290.1",
"protein_id": "ENSP00000417813.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1153,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000489290.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BYSL",
"gene_hgnc_id": 1157,
"hgvs_c": "n.323G>A",
"hgvs_p": null,
"transcript": "ENST00000494032.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 572,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000494032.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BYSL",
"gene_hgnc_id": 1157,
"hgvs_c": "n.-41G>A",
"hgvs_p": null,
"transcript": "ENST00000372996.2",
"protein_id": "ENSP00000362087.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1299,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000372996.2"
}
],
"gene_symbol": "BYSL",
"gene_hgnc_id": 1157,
"dbsnp": "rs776887996",
"frequency_reference_population": 0.000008054373,
"hom_count_reference_population": 0,
"allele_count_reference_population": 13,
"gnomad_exomes_af": 0.00000820869,
"gnomad_genomes_af": 0.00000657186,
"gnomad_exomes_ac": 12,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.05202549695968628,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.091,
"revel_prediction": "Benign",
"alphamissense_score": 0.085,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.58,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.455,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_004053.4",
"gene_symbol": "BYSL",
"hgnc_id": 1157,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.290G>A",
"hgvs_p": "p.Gly97Glu"
}
],
"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
}