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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: 21-46138498-G-GC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=46138498&ref=G&alt=GC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 46138498,
"ref": "G",
"alt": "GC",
"effect": "intron_variant",
"transcript": "NM_001320412.2",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "FTCD",
"gene_hgnc_id": 3974,
"hgvs_c": "c.1443+9dupG",
"hgvs_p": null,
"transcript": "NM_206965.2",
"protein_id": "NP_996848.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 541,
"cds_start": null,
"cds_end": null,
"cds_length": 1626,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1890,
"mane_select": "ENST00000397746.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_206965.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "FTCD",
"gene_hgnc_id": 3974,
"hgvs_c": "c.1443+9_1443+10insG",
"hgvs_p": null,
"transcript": "ENST00000397746.8",
"protein_id": "ENSP00000380854.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 541,
"cds_start": null,
"cds_end": null,
"cds_length": 1626,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1890,
"mane_select": "NM_206965.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397746.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "FTCD",
"gene_hgnc_id": 3974,
"hgvs_c": "c.1443+9_1443+10insG",
"hgvs_p": null,
"transcript": "ENST00000397748.5",
"protein_id": "ENSP00000380856.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 572,
"cds_start": null,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1955,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397748.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "FTCD",
"gene_hgnc_id": 3974,
"hgvs_c": "c.1443+9_1443+10insG",
"hgvs_p": null,
"transcript": "ENST00000291670.9",
"protein_id": "ENSP00000291670.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 541,
"cds_start": null,
"cds_end": null,
"cds_length": 1626,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1905,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000291670.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "FTCD",
"gene_hgnc_id": 3974,
"hgvs_c": "c.1399+9_1399+10insG",
"hgvs_p": null,
"transcript": "ENST00000397743.1",
"protein_id": "ENSP00000380851.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 495,
"cds_start": null,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1834,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397743.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FTCD",
"gene_hgnc_id": 3974,
"hgvs_c": "n.-22+9_-22+10insG",
"hgvs_p": null,
"transcript": "ENST00000460011.6",
"protein_id": "ENSP00000507070.1",
"transcript_support_level": 1,
"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": 1255,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000460011.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "FTCD",
"gene_hgnc_id": 3974,
"hgvs_c": "c.1443+9dupG",
"hgvs_p": null,
"transcript": "NM_001320412.2",
"protein_id": "NP_001307341.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 572,
"cds_start": null,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1967,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320412.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "FTCD",
"gene_hgnc_id": 3974,
"hgvs_c": "c.1443+9dupG",
"hgvs_p": null,
"transcript": "NM_006657.3",
"protein_id": "NP_006648.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 541,
"cds_start": null,
"cds_end": null,
"cds_length": 1626,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1917,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006657.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "FTCD",
"gene_hgnc_id": 3974,
"hgvs_c": "c.1443+9_1443+10insG",
"hgvs_p": null,
"transcript": "ENST00000856709.1",
"protein_id": "ENSP00000526768.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 541,
"cds_start": null,
"cds_end": null,
"cds_length": 1626,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1792,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856709.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "FTCD",
"gene_hgnc_id": 3974,
"hgvs_c": "c.1443+9_1443+10insG",
"hgvs_p": null,
"transcript": "ENST00000856710.1",
"protein_id": "ENSP00000526769.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 541,
"cds_start": null,
"cds_end": null,
"cds_length": 1626,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2099,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856710.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "FTCD",
"gene_hgnc_id": 3974,
"hgvs_c": "c.1399+9_1399+10insG",
"hgvs_p": null,
"transcript": "ENST00000856711.1",
"protein_id": "ENSP00000526770.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 501,
"cds_start": null,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1767,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856711.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FTCD",
"gene_hgnc_id": 3974,
"hgvs_c": "c.63+9_63+10insG",
"hgvs_p": null,
"transcript": "ENST00000446405.5",
"protein_id": "ENSP00000409015.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 132,
"cds_start": null,
"cds_end": null,
"cds_length": 399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 436,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446405.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FTCD",
"gene_hgnc_id": 3974,
"hgvs_c": "c.177+9_177+10insG",
"hgvs_p": null,
"transcript": "ENST00000494498.2",
"protein_id": "ENSP00000507847.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 119,
"cds_start": null,
"cds_end": null,
"cds_length": 360,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1296,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000494498.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "FTCD",
"gene_hgnc_id": 3974,
"hgvs_c": "n.1512+9_1512+10insG",
"hgvs_p": null,
"transcript": "ENST00000498355.6",
"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": 1936,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000498355.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FTCD",
"gene_hgnc_id": 3974,
"hgvs_c": "n.*31_*32insG",
"hgvs_p": null,
"transcript": "ENST00000488577.1",
"protein_id": null,
"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": 447,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000488577.1"
}
],
"gene_symbol": "FTCD",
"gene_hgnc_id": 3974,
"dbsnp": "rs372045405",
"frequency_reference_population": 0.000026601505,
"hom_count_reference_population": 0,
"allele_count_reference_population": 42,
"gnomad_exomes_af": 0.0000280357,
"gnomad_genomes_af": 0.0000131489,
"gnomad_exomes_ac": 40,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0.07000000029802322,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": -1.099,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.07,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP6_Moderate,BS1",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP6_Moderate",
"BS1"
],
"verdict": "Likely_benign",
"transcript": "NM_001320412.2",
"gene_symbol": "FTCD",
"hgnc_id": 3974,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1443+9dupG",
"hgvs_p": null
}
],
"clinvar_disease": "Glutamate formiminotransferase deficiency",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "Glutamate formiminotransferase deficiency",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}