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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: 15-42547396-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=42547396&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 42547396,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_153260.3",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "Q",
"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": "LRRC57",
"gene_hgnc_id": 26719,
"hgvs_c": "c.357A>G",
"hgvs_p": "p.Gln119Gln",
"transcript": "NM_153260.3",
"protein_id": "NP_694992.2",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 239,
"cds_start": 357,
"cds_end": null,
"cds_length": 720,
"cdna_start": 480,
"cdna_end": null,
"cdna_length": 7097,
"mane_select": "ENST00000397130.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153260.3"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": true,
"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": "LRRC57",
"gene_hgnc_id": 26719,
"hgvs_c": "c.357A>G",
"hgvs_p": "p.Gln119Gln",
"transcript": "ENST00000397130.8",
"protein_id": "ENSP00000380319.3",
"transcript_support_level": 1,
"aa_start": 119,
"aa_end": null,
"aa_length": 239,
"cds_start": 357,
"cds_end": null,
"cds_length": 720,
"cdna_start": 480,
"cdna_end": null,
"cdna_length": 7097,
"mane_select": "NM_153260.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397130.8"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC57",
"gene_hgnc_id": 26719,
"hgvs_c": "c.357A>G",
"hgvs_p": "p.Gln119Gln",
"transcript": "ENST00000323443.6",
"protein_id": "ENSP00000326817.2",
"transcript_support_level": 1,
"aa_start": 119,
"aa_end": null,
"aa_length": 239,
"cds_start": 357,
"cds_end": null,
"cds_length": 720,
"cdna_start": 725,
"cdna_end": null,
"cdna_length": 7351,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000323443.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285942",
"gene_hgnc_id": null,
"hgvs_c": "n.357A>G",
"hgvs_p": null,
"transcript": "ENST00000650210.1",
"protein_id": "ENSP00000497618.1",
"transcript_support_level": null,
"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": 2549,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000650210.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"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": "LRRC57",
"gene_hgnc_id": 26719,
"hgvs_c": "c.357A>G",
"hgvs_p": "p.Gln119Gln",
"transcript": "ENST00000563454.5",
"protein_id": "ENSP00000455445.1",
"transcript_support_level": 2,
"aa_start": 119,
"aa_end": null,
"aa_length": 239,
"cds_start": 357,
"cds_end": null,
"cds_length": 720,
"cdna_start": 485,
"cdna_end": null,
"cdna_length": 2407,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000563454.5"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"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": "LRRC57",
"gene_hgnc_id": 26719,
"hgvs_c": "c.357A>G",
"hgvs_p": "p.Gln119Gln",
"transcript": "ENST00000954965.1",
"protein_id": "ENSP00000625024.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 236,
"cds_start": 357,
"cds_end": null,
"cds_length": 711,
"cdna_start": 473,
"cdna_end": null,
"cdna_length": 2324,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954965.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC57",
"gene_hgnc_id": 26719,
"hgvs_c": "c.357A>G",
"hgvs_p": "p.Gln119Gln",
"transcript": "ENST00000570160.1",
"protein_id": "ENSP00000456900.1",
"transcript_support_level": 4,
"aa_start": 119,
"aa_end": null,
"aa_length": 147,
"cds_start": 357,
"cds_end": null,
"cds_length": 445,
"cdna_start": 473,
"cdna_end": null,
"cdna_length": 561,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000570160.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"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": "LRRC57",
"gene_hgnc_id": 26719,
"hgvs_c": "c.357A>G",
"hgvs_p": "p.Gln119Gln",
"transcript": "XM_047432335.1",
"protein_id": "XP_047288291.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 239,
"cds_start": 357,
"cds_end": null,
"cds_length": 720,
"cdna_start": 396,
"cdna_end": null,
"cdna_length": 7013,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432335.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"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": "LRRC57",
"gene_hgnc_id": 26719,
"hgvs_c": "c.357A>G",
"hgvs_p": "p.Gln119Gln",
"transcript": "XM_011521423.4",
"protein_id": "XP_011519725.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 235,
"cds_start": 357,
"cds_end": null,
"cds_length": 708,
"cdna_start": 480,
"cdna_end": null,
"cdna_length": 976,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521423.4"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"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": "LRRC57",
"gene_hgnc_id": 26719,
"hgvs_c": "c.357A>G",
"hgvs_p": "p.Gln119Gln",
"transcript": "XM_011521424.4",
"protein_id": "XP_011519726.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 233,
"cds_start": 357,
"cds_end": null,
"cds_length": 702,
"cdna_start": 480,
"cdna_end": null,
"cdna_length": 2584,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521424.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC57",
"gene_hgnc_id": 26719,
"hgvs_c": "n.1056A>G",
"hgvs_p": null,
"transcript": "ENST00000569830.1",
"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": 1459,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000569830.1"
}
],
"gene_symbol": "LRRC57",
"gene_hgnc_id": 26719,
"dbsnp": "rs148009854",
"frequency_reference_population": 0.0003884354,
"hom_count_reference_population": 1,
"allele_count_reference_population": 627,
"gnomad_exomes_af": 0.000400166,
"gnomad_genomes_af": 0.000275815,
"gnomad_exomes_ac": 585,
"gnomad_genomes_ac": 42,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5899999737739563,
"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": -0.59,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.175,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_153260.3",
"gene_symbol": "LRRC57",
"hgnc_id": 26719,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.357A>G",
"hgvs_p": "p.Gln119Gln"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000650210.1",
"gene_symbol": "ENSG00000285942",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.357A>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}