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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: 6-30546078-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=30546078&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 30546078,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_005275.5",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNL1",
"gene_hgnc_id": 4413,
"hgvs_c": "c.1818G>A",
"hgvs_p": "p.Glu606Glu",
"transcript": "NM_005275.5",
"protein_id": "NP_005266.2",
"transcript_support_level": null,
"aa_start": 606,
"aa_end": null,
"aa_length": 607,
"cds_start": 1818,
"cds_end": null,
"cds_length": 1824,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000376621.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005275.5"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNL1",
"gene_hgnc_id": 4413,
"hgvs_c": "c.1818G>A",
"hgvs_p": "p.Glu606Glu",
"transcript": "ENST00000376621.8",
"protein_id": "ENSP00000365806.3",
"transcript_support_level": 1,
"aa_start": 606,
"aa_end": null,
"aa_length": 607,
"cds_start": 1818,
"cds_end": null,
"cds_length": 1824,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005275.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376621.8"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNL1",
"gene_hgnc_id": 4413,
"hgvs_c": "c.1878G>A",
"hgvs_p": "p.Glu626Glu",
"transcript": "ENST00000958484.1",
"protein_id": "ENSP00000628543.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 627,
"cds_start": 1878,
"cds_end": null,
"cds_length": 1884,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958484.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNL1",
"gene_hgnc_id": 4413,
"hgvs_c": "c.1821G>A",
"hgvs_p": "p.Glu607Glu",
"transcript": "ENST00000911429.1",
"protein_id": "ENSP00000581488.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 608,
"cds_start": 1821,
"cds_end": null,
"cds_length": 1827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911429.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNL1",
"gene_hgnc_id": 4413,
"hgvs_c": "c.1809G>A",
"hgvs_p": "p.Glu603Glu",
"transcript": "ENST00000863388.1",
"protein_id": "ENSP00000533447.1",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 604,
"cds_start": 1809,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863388.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNL1",
"gene_hgnc_id": 4413,
"hgvs_c": "c.1746G>A",
"hgvs_p": "p.Glu582Glu",
"transcript": "ENST00000911426.1",
"protein_id": "ENSP00000581485.1",
"transcript_support_level": null,
"aa_start": 582,
"aa_end": null,
"aa_length": 583,
"cds_start": 1746,
"cds_end": null,
"cds_length": 1752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911426.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNL1",
"gene_hgnc_id": 4413,
"hgvs_c": "c.1734G>A",
"hgvs_p": "p.Glu578Glu",
"transcript": "ENST00000911428.1",
"protein_id": "ENSP00000581487.1",
"transcript_support_level": null,
"aa_start": 578,
"aa_end": null,
"aa_length": 579,
"cds_start": 1734,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911428.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNL1",
"gene_hgnc_id": 4413,
"hgvs_c": "c.1722G>A",
"hgvs_p": "p.Glu574Glu",
"transcript": "ENST00000911424.1",
"protein_id": "ENSP00000581483.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 575,
"cds_start": 1722,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911424.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNL1",
"gene_hgnc_id": 4413,
"hgvs_c": "c.1695G>A",
"hgvs_p": "p.Glu565Glu",
"transcript": "ENST00000911427.1",
"protein_id": "ENSP00000581486.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 566,
"cds_start": 1695,
"cds_end": null,
"cds_length": 1701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911427.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNL1",
"gene_hgnc_id": 4413,
"hgvs_c": "c.1623G>A",
"hgvs_p": "p.Glu541Glu",
"transcript": "ENST00000911425.1",
"protein_id": "ENSP00000581484.1",
"transcript_support_level": null,
"aa_start": 541,
"aa_end": null,
"aa_length": 542,
"cds_start": 1623,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911425.1"
}
],
"gene_symbol": "GNL1",
"gene_hgnc_id": 4413,
"dbsnp": "rs1799428642",
"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": -0.44999998807907104,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.45,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.527,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.06,
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP7",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 3,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_005275.5",
"gene_symbol": "GNL1",
"hgnc_id": 4413,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1818G>A",
"hgvs_p": "p.Glu606Glu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}