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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: X-48478514-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=48478514&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 48478514,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000348411.3",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FTSJ1",
"gene_hgnc_id": 13254,
"hgvs_c": "c.187A>G",
"hgvs_p": "p.Ile63Val",
"transcript": "NM_012280.4",
"protein_id": "NP_036412.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 329,
"cds_start": 187,
"cds_end": null,
"cds_length": 990,
"cdna_start": 472,
"cdna_end": null,
"cdna_length": 1899,
"mane_select": "ENST00000348411.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FTSJ1",
"gene_hgnc_id": 13254,
"hgvs_c": "c.187A>G",
"hgvs_p": "p.Ile63Val",
"transcript": "ENST00000348411.3",
"protein_id": "ENSP00000326948.2",
"transcript_support_level": 1,
"aa_start": 63,
"aa_end": null,
"aa_length": 329,
"cds_start": 187,
"cds_end": null,
"cds_length": 990,
"cdna_start": 472,
"cdna_end": null,
"cdna_length": 1899,
"mane_select": "NM_012280.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FTSJ1",
"gene_hgnc_id": 13254,
"hgvs_c": "c.187A>G",
"hgvs_p": "p.Ile63Val",
"transcript": "NM_001441197.1",
"protein_id": "NP_001428126.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 337,
"cds_start": 187,
"cds_end": null,
"cds_length": 1014,
"cdna_start": 472,
"cdna_end": null,
"cdna_length": 1402,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FTSJ1",
"gene_hgnc_id": 13254,
"hgvs_c": "c.187A>G",
"hgvs_p": "p.Ile63Val",
"transcript": "NM_001441198.1",
"protein_id": "NP_001428127.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 337,
"cds_start": 187,
"cds_end": null,
"cds_length": 1014,
"cdna_start": 578,
"cdna_end": null,
"cdna_length": 1508,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FTSJ1",
"gene_hgnc_id": 13254,
"hgvs_c": "c.187A>G",
"hgvs_p": "p.Ile63Val",
"transcript": "NM_001441199.1",
"protein_id": "NP_001428128.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 335,
"cds_start": 187,
"cds_end": null,
"cds_length": 1008,
"cdna_start": 472,
"cdna_end": null,
"cdna_length": 1396,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FTSJ1",
"gene_hgnc_id": 13254,
"hgvs_c": "c.187A>G",
"hgvs_p": "p.Ile63Val",
"transcript": "NM_001441200.1",
"protein_id": "NP_001428129.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 335,
"cds_start": 187,
"cds_end": null,
"cds_length": 1008,
"cdna_start": 578,
"cdna_end": null,
"cdna_length": 1502,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FTSJ1",
"gene_hgnc_id": 13254,
"hgvs_c": "c.187A>G",
"hgvs_p": "p.Ile63Val",
"transcript": "NM_001441195.1",
"protein_id": "NP_001428124.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 329,
"cds_start": 187,
"cds_end": null,
"cds_length": 990,
"cdna_start": 578,
"cdna_end": null,
"cdna_length": 2005,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FTSJ1",
"gene_hgnc_id": 13254,
"hgvs_c": "c.187A>G",
"hgvs_p": "p.Ile63Val",
"transcript": "NM_001441196.1",
"protein_id": "NP_001428125.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 327,
"cds_start": 187,
"cds_end": null,
"cds_length": 984,
"cdna_start": 472,
"cdna_end": null,
"cdna_length": 1893,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FTSJ1",
"gene_hgnc_id": 13254,
"hgvs_c": "c.187A>G",
"hgvs_p": "p.Ile63Val",
"transcript": "NM_177439.3",
"protein_id": "NP_803188.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 327,
"cds_start": 187,
"cds_end": null,
"cds_length": 984,
"cdna_start": 578,
"cdna_end": null,
"cdna_length": 1999,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FTSJ1",
"gene_hgnc_id": 13254,
"hgvs_c": "c.187A>G",
"hgvs_p": "p.Ile63Val",
"transcript": "ENST00000019019.6",
"protein_id": "ENSP00000019019.2",
"transcript_support_level": 2,
"aa_start": 63,
"aa_end": null,
"aa_length": 327,
"cds_start": 187,
"cds_end": null,
"cds_length": 984,
"cdna_start": 616,
"cdna_end": null,
"cdna_length": 1986,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "FTSJ1",
"gene_hgnc_id": 13254,
"hgvs_c": "n.419A>G",
"hgvs_p": null,
"transcript": "ENST00000485486.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 547,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FTSJ1",
"gene_hgnc_id": 13254,
"hgvs_c": "n.691A>G",
"hgvs_p": null,
"transcript": "ENST00000487353.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 838,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FTSJ1",
"gene_hgnc_id": 13254,
"hgvs_c": "n.472A>G",
"hgvs_p": null,
"transcript": "XR_007068186.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2008,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FTSJ1",
"gene_hgnc_id": 13254,
"hgvs_c": "n.472A>G",
"hgvs_p": null,
"transcript": "XR_949015.3",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2014,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FTSJ1",
"gene_hgnc_id": 13254,
"hgvs_c": "n.472A>G",
"hgvs_p": null,
"transcript": "XR_949016.3",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2002,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FTSJ1",
"gene_hgnc_id": 13254,
"hgvs_c": "c.-76-524A>G",
"hgvs_p": null,
"transcript": "NM_001282157.2",
"protein_id": "NP_001269086.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 192,
"cds_start": -4,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1477,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FTSJ1",
"gene_hgnc_id": 13254,
"hgvs_c": "c.-76-524A>G",
"hgvs_p": null,
"transcript": "ENST00000396894.8",
"protein_id": "ENSP00000380103.4",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 192,
"cds_start": -4,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1669,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FTSJ1",
"gene_hgnc_id": 13254,
"hgvs_c": "n.179+2118A>G",
"hgvs_p": null,
"transcript": "ENST00000473235.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 688,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FTSJ1",
"gene_hgnc_id": 13254,
"hgvs_c": "n.244+2118A>G",
"hgvs_p": null,
"transcript": "ENST00000492562.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 610,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FTSJ1",
"gene_hgnc_id": 13254,
"hgvs_c": "n.-167A>G",
"hgvs_p": null,
"transcript": "ENST00000490202.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 965,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FTSJ1",
"gene_hgnc_id": 13254,
"dbsnp": "rs782099600",
"frequency_reference_population": 0.000012417681,
"hom_count_reference_population": 4,
"allele_count_reference_population": 15,
"gnomad_exomes_af": 0.00000547348,
"gnomad_genomes_af": 0.000080529,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": 9,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.041684627532958984,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.042,
"revel_prediction": "Benign",
"alphamissense_score": 0.0827,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.84,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.355,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.05,
"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": "ENST00000348411.3",
"gene_symbol": "FTSJ1",
"hgnc_id": 13254,
"effects": [
"missense_variant"
],
"inheritance_mode": "XL",
"hgvs_c": "c.187A>G",
"hgvs_p": "p.Ile63Val"
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}