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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: 1-93499571-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=93499571&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PP3",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "FNBP1L",
"hgnc_id": 20851,
"hgvs_c": "c.128C>T",
"hgvs_p": "p.Ala43Val",
"inheritance_mode": "AD",
"pathogenic_score": 1,
"score": -3,
"transcript": "NM_001164473.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3,BS2",
"acmg_score": -3,
"allele_count_reference_population": 16,
"alphamissense_prediction": null,
"alphamissense_score": 0.9812,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.19,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.7916274666786194,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 605,
"aa_ref": "A",
"aa_start": 43,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4227,
"cdna_start": 292,
"cds_end": null,
"cds_length": 1818,
"cds_start": 128,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001164473.3",
"gene_hgnc_id": 20851,
"gene_symbol": "FNBP1L",
"hgvs_c": "c.128C>T",
"hgvs_p": "p.Ala43Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000271234.13",
"protein_coding": true,
"protein_id": "NP_001157945.1",
"strand": true,
"transcript": "NM_001164473.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 605,
"aa_ref": "A",
"aa_start": 43,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4227,
"cdna_start": 292,
"cds_end": null,
"cds_length": 1818,
"cds_start": 128,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000271234.13",
"gene_hgnc_id": 20851,
"gene_symbol": "FNBP1L",
"hgvs_c": "c.128C>T",
"hgvs_p": "p.Ala43Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001164473.3",
"protein_coding": true,
"protein_id": "ENSP00000271234.7",
"strand": true,
"transcript": "ENST00000271234.13",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 551,
"aa_ref": "A",
"aa_start": 43,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5341,
"cdna_start": 279,
"cds_end": null,
"cds_length": 1656,
"cds_start": 128,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000260506.12",
"gene_hgnc_id": 20851,
"gene_symbol": "FNBP1L",
"hgvs_c": "c.128C>T",
"hgvs_p": "p.Ala43Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000260506.8",
"strand": true,
"transcript": "ENST00000260506.12",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 600,
"aa_ref": "A",
"aa_start": 43,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4250,
"cdna_start": 334,
"cds_end": null,
"cds_length": 1803,
"cds_start": 128,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000868905.1",
"gene_hgnc_id": 20851,
"gene_symbol": "FNBP1L",
"hgvs_c": "c.128C>T",
"hgvs_p": "p.Ala43Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538964.1",
"strand": true,
"transcript": "ENST00000868905.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 577,
"aa_ref": "A",
"aa_start": 43,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4118,
"cdna_start": 267,
"cds_end": null,
"cds_length": 1734,
"cds_start": 128,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000933415.1",
"gene_hgnc_id": 20851,
"gene_symbol": "FNBP1L",
"hgvs_c": "c.128C>T",
"hgvs_p": "p.Ala43Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603474.1",
"strand": true,
"transcript": "ENST00000933415.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 551,
"aa_ref": "A",
"aa_start": 43,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5356,
"cdna_start": 292,
"cds_end": null,
"cds_length": 1656,
"cds_start": 128,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001024948.3",
"gene_hgnc_id": 20851,
"gene_symbol": "FNBP1L",
"hgvs_c": "c.128C>T",
"hgvs_p": "p.Ala43Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001020119.1",
"strand": true,
"transcript": "NM_001024948.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 547,
"aa_ref": "A",
"aa_start": 43,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4053,
"cdna_start": 292,
"cds_end": null,
"cds_length": 1644,
"cds_start": 128,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_017737.5",
"gene_hgnc_id": 20851,
"gene_symbol": "FNBP1L",
"hgvs_c": "c.128C>T",
"hgvs_p": "p.Ala43Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_060207.2",
"strand": true,
"transcript": "NM_017737.5",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 547,
"aa_ref": "A",
"aa_start": 43,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3889,
"cdna_start": 128,
"cds_end": null,
"cds_length": 1644,
"cds_start": 128,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000370253.6",
"gene_hgnc_id": 20851,
"gene_symbol": "FNBP1L",
"hgvs_c": "c.128C>T",
"hgvs_p": "p.Ala43Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000359275.2",
"strand": true,
"transcript": "ENST00000370253.6",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 545,
"aa_ref": "A",
"aa_start": 41,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4102,
"cdna_start": 341,
"cds_end": null,
"cds_length": 1638,
"cds_start": 122,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000933414.1",
"gene_hgnc_id": 20851,
"gene_symbol": "FNBP1L",
"hgvs_c": "c.122C>T",
"hgvs_p": "p.Ala41Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603473.1",
"strand": true,
"transcript": "ENST00000933414.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 529,
"aa_ref": "A",
"aa_start": 43,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4039,
"cdna_start": 338,
"cds_end": null,
"cds_length": 1590,
"cds_start": 128,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000868904.1",
"gene_hgnc_id": 20851,
"gene_symbol": "FNBP1L",
"hgvs_c": "c.128C>T",
"hgvs_p": "p.Ala43Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538963.1",
"strand": true,
"transcript": "ENST00000868904.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 527,
"aa_ref": "A",
"aa_start": 43,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4019,
"cdna_start": 321,
"cds_end": null,
"cds_length": 1584,
"cds_start": 128,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000868906.1",
"gene_hgnc_id": 20851,
"gene_symbol": "FNBP1L",
"hgvs_c": "c.128C>T",
"hgvs_p": "p.Ala43Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538965.1",
"strand": true,
"transcript": "ENST00000868906.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 504,
"aa_ref": "A",
"aa_start": 43,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3903,
"cdna_start": 279,
"cds_end": null,
"cds_length": 1515,
"cds_start": 128,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000868907.1",
"gene_hgnc_id": 20851,
"gene_symbol": "FNBP1L",
"hgvs_c": "c.128C>T",
"hgvs_p": "p.Ala43Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538966.1",
"strand": true,
"transcript": "ENST00000868907.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 494,
"aa_ref": "A",
"aa_start": 43,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3954,
"cdna_start": 355,
"cds_end": null,
"cds_length": 1485,
"cds_start": 128,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000868903.1",
"gene_hgnc_id": 20851,
"gene_symbol": "FNBP1L",
"hgvs_c": "c.128C>T",
"hgvs_p": "p.Ala43Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538962.1",
"strand": true,
"transcript": "ENST00000868903.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs768331923",
"effect": "missense_variant",
"frequency_reference_population": 0.0000112685575,
"gene_hgnc_id": 20851,
"gene_symbol": "FNBP1L",
"gnomad_exomes_ac": 16,
"gnomad_exomes_af": 0.0000112686,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 6.168,
"pos": 93499571,
"ref": "C",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.547,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001164473.3"
}
]
}