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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: 7-32975261-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=32975261&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 32975261,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001284341.2",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP9",
"gene_hgnc_id": 3725,
"hgvs_c": "c.447G>C",
"hgvs_p": "p.Gln149His",
"transcript": "NM_007270.5",
"protein_id": "NP_009201.2",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 570,
"cds_start": 447,
"cds_end": null,
"cds_length": 1713,
"cdna_start": 581,
"cdna_end": null,
"cdna_length": 3424,
"mane_select": "ENST00000242209.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007270.5"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP9",
"gene_hgnc_id": 3725,
"hgvs_c": "c.447G>C",
"hgvs_p": "p.Gln149His",
"transcript": "ENST00000242209.9",
"protein_id": "ENSP00000242209.4",
"transcript_support_level": 1,
"aa_start": 149,
"aa_end": null,
"aa_length": 570,
"cds_start": 447,
"cds_end": null,
"cds_length": 1713,
"cdna_start": 581,
"cdna_end": null,
"cdna_length": 3424,
"mane_select": "NM_007270.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000242209.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP9",
"gene_hgnc_id": 3725,
"hgvs_c": "n.667G>C",
"hgvs_p": null,
"transcript": "ENST00000485309.1",
"protein_id": null,
"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": 829,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000485309.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP9",
"gene_hgnc_id": 3725,
"hgvs_c": "c.606G>C",
"hgvs_p": "p.Gln202His",
"transcript": "NM_001284341.2",
"protein_id": "NP_001271270.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 623,
"cds_start": 606,
"cds_end": null,
"cds_length": 1872,
"cdna_start": 740,
"cdna_end": null,
"cdna_length": 3583,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001284341.2"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP9",
"gene_hgnc_id": 3725,
"hgvs_c": "c.606G>C",
"hgvs_p": "p.Gln202His",
"transcript": "ENST00000538336.5",
"protein_id": "ENSP00000439250.1",
"transcript_support_level": 2,
"aa_start": 202,
"aa_end": null,
"aa_length": 623,
"cds_start": 606,
"cds_end": null,
"cds_length": 1872,
"cdna_start": 776,
"cdna_end": null,
"cdna_length": 3621,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000538336.5"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"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": "FKBP9",
"gene_hgnc_id": 3725,
"hgvs_c": "c.447G>C",
"hgvs_p": "p.Gln149His",
"transcript": "ENST00000875466.1",
"protein_id": "ENSP00000545525.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 601,
"cds_start": 447,
"cds_end": null,
"cds_length": 1806,
"cdna_start": 612,
"cdna_end": null,
"cdna_length": 3548,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875466.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"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": "FKBP9",
"gene_hgnc_id": 3725,
"hgvs_c": "c.447G>C",
"hgvs_p": "p.Gln149His",
"transcript": "ENST00000875470.1",
"protein_id": "ENSP00000545529.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 581,
"cds_start": 447,
"cds_end": null,
"cds_length": 1746,
"cdna_start": 557,
"cdna_end": null,
"cdna_length": 3404,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875470.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP9",
"gene_hgnc_id": 3725,
"hgvs_c": "c.465G>C",
"hgvs_p": "p.Gln155His",
"transcript": "ENST00000875468.1",
"protein_id": "ENSP00000545527.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 576,
"cds_start": 465,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 610,
"cdna_end": null,
"cdna_length": 3451,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875468.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP9",
"gene_hgnc_id": 3725,
"hgvs_c": "c.423G>C",
"hgvs_p": "p.Gln141His",
"transcript": "ENST00000970338.1",
"protein_id": "ENSP00000640397.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 562,
"cds_start": 423,
"cds_end": null,
"cds_length": 1689,
"cdna_start": 567,
"cdna_end": null,
"cdna_length": 3408,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970338.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP9",
"gene_hgnc_id": 3725,
"hgvs_c": "c.447G>C",
"hgvs_p": "p.Gln149His",
"transcript": "ENST00000875469.1",
"protein_id": "ENSP00000545528.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 459,
"cds_start": 447,
"cds_end": null,
"cds_length": 1380,
"cdna_start": 564,
"cdna_end": null,
"cdna_length": 3043,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875469.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP9",
"gene_hgnc_id": 3725,
"hgvs_c": "c.168G>C",
"hgvs_p": "p.Gln56His",
"transcript": "XM_047419849.1",
"protein_id": "XP_047275805.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 477,
"cds_start": 168,
"cds_end": null,
"cds_length": 1434,
"cdna_start": 824,
"cdna_end": null,
"cdna_length": 3667,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419849.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP9",
"gene_hgnc_id": 3725,
"hgvs_c": "c.447G>C",
"hgvs_p": "p.Gln149His",
"transcript": "XM_011515115.4",
"protein_id": "XP_011513417.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 359,
"cds_start": 447,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 581,
"cdna_end": null,
"cdna_length": 3771,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515115.4"
},
{
"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": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FKBP9",
"gene_hgnc_id": 3725,
"hgvs_c": "c.222-1093G>C",
"hgvs_p": null,
"transcript": "ENST00000875467.1",
"protein_id": "ENSP00000545526.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 458,
"cds_start": null,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3104,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875467.1"
},
{
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FKBP9",
"gene_hgnc_id": 3725,
"hgvs_c": "c.222-13246G>C",
"hgvs_p": null,
"transcript": "ENST00000970337.1",
"protein_id": "ENSP00000640396.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 346,
"cds_start": null,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2787,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970337.1"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP9",
"gene_hgnc_id": 3725,
"hgvs_c": "n.450G>C",
"hgvs_p": null,
"transcript": "ENST00000469202.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 711,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000469202.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP9",
"gene_hgnc_id": 3725,
"hgvs_c": "n.21G>C",
"hgvs_p": null,
"transcript": "ENST00000472007.5",
"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": 703,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000472007.5"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP9",
"gene_hgnc_id": 3725,
"hgvs_c": "n.583G>C",
"hgvs_p": null,
"transcript": "ENST00000494374.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 1549,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000494374.5"
}
],
"gene_symbol": "FKBP9",
"gene_hgnc_id": 3725,
"dbsnp": "rs200986982",
"frequency_reference_population": 0.00008550843,
"hom_count_reference_population": 0,
"allele_count_reference_population": 138,
"gnomad_exomes_af": 0.0000855258,
"gnomad_genomes_af": 0.0000853422,
"gnomad_exomes_ac": 125,
"gnomad_genomes_ac": 13,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.09483960270881653,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.125,
"revel_prediction": "Benign",
"alphamissense_score": 0.1563,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.28,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.84,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001284341.2",
"gene_symbol": "FKBP9",
"hgnc_id": 3725,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.606G>C",
"hgvs_p": "p.Gln202His"
}
],
"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
}