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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: 6-30553430-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=30553430&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 30553430,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_005275.5",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNL1",
"gene_hgnc_id": 4413,
"hgvs_c": "c.728A>G",
"hgvs_p": "p.His243Arg",
"transcript": "NM_005275.5",
"protein_id": "NP_005266.2",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 607,
"cds_start": 728,
"cds_end": null,
"cds_length": 1824,
"cdna_start": 1014,
"cdna_end": null,
"cdna_length": 6801,
"mane_select": "ENST00000376621.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005275.5"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNL1",
"gene_hgnc_id": 4413,
"hgvs_c": "c.728A>G",
"hgvs_p": "p.His243Arg",
"transcript": "ENST00000376621.8",
"protein_id": "ENSP00000365806.3",
"transcript_support_level": 1,
"aa_start": 243,
"aa_end": null,
"aa_length": 607,
"cds_start": 728,
"cds_end": null,
"cds_length": 1824,
"cdna_start": 1014,
"cdna_end": null,
"cdna_length": 6801,
"mane_select": "NM_005275.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376621.8"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNL1",
"gene_hgnc_id": 4413,
"hgvs_c": "c.788A>G",
"hgvs_p": "p.His263Arg",
"transcript": "ENST00000958484.1",
"protein_id": "ENSP00000628543.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 627,
"cds_start": 788,
"cds_end": null,
"cds_length": 1884,
"cdna_start": 889,
"cdna_end": null,
"cdna_length": 2093,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958484.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNL1",
"gene_hgnc_id": 4413,
"hgvs_c": "c.728A>G",
"hgvs_p": "p.His243Arg",
"transcript": "ENST00000911429.1",
"protein_id": "ENSP00000581488.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 608,
"cds_start": 728,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 790,
"cdna_end": null,
"cdna_length": 1997,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911429.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNL1",
"gene_hgnc_id": 4413,
"hgvs_c": "c.719A>G",
"hgvs_p": "p.His240Arg",
"transcript": "ENST00000863388.1",
"protein_id": "ENSP00000533447.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 604,
"cds_start": 719,
"cds_end": null,
"cds_length": 1815,
"cdna_start": 808,
"cdna_end": null,
"cdna_length": 2012,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863388.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNL1",
"gene_hgnc_id": 4413,
"hgvs_c": "c.656A>G",
"hgvs_p": "p.His219Arg",
"transcript": "ENST00000911426.1",
"protein_id": "ENSP00000581485.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 583,
"cds_start": 656,
"cds_end": null,
"cds_length": 1752,
"cdna_start": 741,
"cdna_end": null,
"cdna_length": 1945,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911426.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNL1",
"gene_hgnc_id": 4413,
"hgvs_c": "c.728A>G",
"hgvs_p": "p.His243Arg",
"transcript": "ENST00000911428.1",
"protein_id": "ENSP00000581487.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 579,
"cds_start": 728,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 800,
"cdna_end": null,
"cdna_length": 1920,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911428.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNL1",
"gene_hgnc_id": 4413,
"hgvs_c": "c.728A>G",
"hgvs_p": "p.His243Arg",
"transcript": "ENST00000911424.1",
"protein_id": "ENSP00000581483.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 575,
"cds_start": 728,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 1044,
"cdna_end": null,
"cdna_length": 3749,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911424.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNL1",
"gene_hgnc_id": 4413,
"hgvs_c": "c.728A>G",
"hgvs_p": "p.His243Arg",
"transcript": "ENST00000911427.1",
"protein_id": "ENSP00000581486.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 566,
"cds_start": 728,
"cds_end": null,
"cds_length": 1701,
"cdna_start": 809,
"cdna_end": null,
"cdna_length": 1890,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911427.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNL1",
"gene_hgnc_id": 4413,
"hgvs_c": "c.728A>G",
"hgvs_p": "p.His243Arg",
"transcript": "ENST00000911425.1",
"protein_id": "ENSP00000581484.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 542,
"cds_start": 728,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 1128,
"cdna_end": null,
"cdna_length": 2137,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911425.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNL1",
"gene_hgnc_id": 4413,
"hgvs_c": "c.722A>G",
"hgvs_p": "p.His241Arg",
"transcript": "ENST00000433809.1",
"protein_id": "ENSP00000404728.1",
"transcript_support_level": 2,
"aa_start": 241,
"aa_end": null,
"aa_length": 263,
"cds_start": 722,
"cds_end": null,
"cds_length": 792,
"cdna_start": 1023,
"cdna_end": null,
"cdna_length": 1093,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000433809.1"
}
],
"gene_symbol": "GNL1",
"gene_hgnc_id": 4413,
"dbsnp": "rs372049810",
"frequency_reference_population": 0.000046502977,
"hom_count_reference_population": 3,
"allele_count_reference_population": 75,
"gnomad_exomes_af": 0.0000492907,
"gnomad_genomes_af": 0.0000197267,
"gnomad_exomes_ac": 72,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 3,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06032237410545349,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.05,
"revel_prediction": "Benign",
"alphamissense_score": 0.0592,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.7,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.776,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_005275.5",
"gene_symbol": "GNL1",
"hgnc_id": 4413,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.728A>G",
"hgvs_p": "p.His243Arg"
}
],
"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
}