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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: 1-171209118-C-CTT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=171209118&ref=C&alt=CTT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 171209118,
"ref": "C",
"alt": "CTT",
"effect": "frameshift_variant",
"transcript": "ENST00000209929.10",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMO2",
"gene_hgnc_id": 3770,
"hgvs_c": "c.1587_1588dupTT",
"hgvs_p": "p.Cys530fs",
"transcript": "NM_001460.5",
"protein_id": "NP_001451.2",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 535,
"cds_start": 1589,
"cds_end": null,
"cds_length": 1608,
"cdna_start": 1655,
"cdna_end": null,
"cdna_length": 5215,
"mane_select": "ENST00000209929.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "F?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMO2",
"gene_hgnc_id": 3770,
"hgvs_c": "c.1587_1588dupTT",
"hgvs_p": "p.Cys530fs",
"transcript": "ENST00000209929.10",
"protein_id": "ENSP00000209929.8",
"transcript_support_level": 1,
"aa_start": 530,
"aa_end": null,
"aa_length": 535,
"cds_start": 1589,
"cds_end": null,
"cds_length": 1608,
"cdna_start": 1655,
"cdna_end": null,
"cdna_length": 5215,
"mane_select": "NM_001460.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMO2",
"gene_hgnc_id": 3770,
"hgvs_c": "c.1392_1393dupTT",
"hgvs_p": "p.Cys465fs",
"transcript": "NM_001365900.2",
"protein_id": "NP_001352829.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 470,
"cds_start": 1394,
"cds_end": null,
"cds_length": 1413,
"cdna_start": 1517,
"cdna_end": null,
"cdna_length": 5077,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMO2",
"gene_hgnc_id": 3770,
"hgvs_c": "c.927_928dupTT",
"hgvs_p": "p.Cys310fs",
"transcript": "NM_001301347.2",
"protein_id": "NP_001288276.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 315,
"cds_start": 929,
"cds_end": null,
"cds_length": 948,
"cdna_start": 1374,
"cdna_end": null,
"cdna_length": 4934,
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMO2",
"gene_hgnc_id": 3770,
"hgvs_c": "n.579_580dupTT",
"hgvs_p": null,
"transcript": "ENST00000488431.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 662,
"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": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMO2",
"gene_hgnc_id": 3770,
"hgvs_c": "n.*910_*911dupTT",
"hgvs_p": null,
"transcript": "ENST00000529935.5",
"protein_id": "ENSP00000487002.1",
"transcript_support_level": 2,
"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": 1444,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMO2",
"gene_hgnc_id": 3770,
"hgvs_c": "n.*910_*911dupTT",
"hgvs_p": null,
"transcript": "ENST00000529935.5",
"protein_id": "ENSP00000487002.1",
"transcript_support_level": 2,
"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": 1444,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000225243",
"gene_hgnc_id": null,
"hgvs_c": "n.289-5132_289-5131dupAA",
"hgvs_p": null,
"transcript": "ENST00000422841.5",
"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": 658,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000225243",
"gene_hgnc_id": null,
"hgvs_c": "n.139-9605_139-9604dupAA",
"hgvs_p": null,
"transcript": "ENST00000445290.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 407,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000225243",
"gene_hgnc_id": null,
"hgvs_c": "n.160-5132_160-5131dupAA",
"hgvs_p": null,
"transcript": "ENST00000445909.6",
"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": 526,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000231424",
"gene_hgnc_id": 40240,
"hgvs_c": "n.457+38461_457+38462dupAA",
"hgvs_p": null,
"transcript": "ENST00000653116.1",
"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": 1990,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000231424",
"gene_hgnc_id": 40240,
"hgvs_c": "n.482+38461_482+38462dupAA",
"hgvs_p": null,
"transcript": "ENST00000664920.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 1161,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"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": "ENSG00000231424",
"gene_hgnc_id": 40240,
"hgvs_c": "n.448+38446_448+38447dupAA",
"hgvs_p": null,
"transcript": "ENST00000669750.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 2208,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000231424",
"gene_hgnc_id": 40240,
"hgvs_c": "n.287-40932_287-40931dupAA",
"hgvs_p": null,
"transcript": "ENST00000670085.1",
"protein_id": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 1,
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"gene_symbol": "ENSG00000231424",
"gene_hgnc_id": 40240,
"hgvs_c": "n.295-40932_295-40931dupAA",
"hgvs_p": null,
"transcript": "ENST00000739824.1",
"protein_id": null,
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"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 678,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000231424",
"gene_hgnc_id": 40240,
"hgvs_c": "n.173+4678_173+4679dupAA",
"hgvs_p": null,
"transcript": "ENST00000739825.1",
"protein_id": null,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000225243",
"gene_hgnc_id": null,
"hgvs_c": "n.153-5132_153-5131dupAA",
"hgvs_p": null,
"transcript": "ENST00000739911.1",
"protein_id": null,
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"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000225243",
"gene_hgnc_id": null,
"hgvs_c": "n.147-5132_147-5131dupAA",
"hgvs_p": null,
"transcript": "ENST00000739912.1",
"protein_id": null,
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"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 548,
"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000225243",
"gene_hgnc_id": null,
"hgvs_c": "n.158-5132_158-5131dupAA",
"hgvs_p": null,
"transcript": "ENST00000739913.1",
"protein_id": null,
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},
{
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"strand": false,
"consequences": [
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],
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"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FMO1-AS1",
"gene_hgnc_id": 40240,
"hgvs_c": "n.514+38461_514+38462dupAA",
"hgvs_p": null,
"transcript": "XR_001738291.3",
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"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2091,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LOC124900413",
"gene_hgnc_id": null,
"hgvs_c": "n.366-12182_366-12181dupAA",
"hgvs_p": null,
"transcript": "XR_007066731.1",
"protein_id": null,
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"biotype": null,
"feature": null
},
{
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"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": "FMO1-AS1",
"gene_hgnc_id": 40240,
"hgvs_c": "n.514+38461_514+38462dupAA",
"hgvs_p": null,
"transcript": "XR_922278.4",
"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": 898,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FMO2",
"gene_hgnc_id": 3770,
"dbsnp": "rs2234889",
"frequency_reference_population": 0.000016199865,
"hom_count_reference_population": 0,
"allele_count_reference_population": 11,
"gnomad_exomes_af": 0.0000170558,
"gnomad_genomes_af": 0.0000132155,
"gnomad_exomes_ac": 9,
"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": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": -1.466,
"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": null,
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
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"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
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],
"verdict": "Uncertain_significance",
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"effects": [
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],
"inheritance_mode": "AR",
"hgvs_c": "c.1587_1588dupTT",
"hgvs_p": "p.Cys530fs"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
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],
"verdict": "Uncertain_significance",
"transcript": "ENST00000445290.1",
"gene_symbol": "ENSG00000225243",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.139-9605_139-9604dupAA",
"hgvs_p": null
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
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],
"verdict": "Uncertain_significance",
"transcript": "ENST00000653116.1",
"gene_symbol": "ENSG00000231424",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.457+38461_457+38462dupAA",
"hgvs_p": null
},
{
"score": 2,
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"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "XR_922278.4",
"gene_symbol": "FMO1-AS1",
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"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "n.514+38461_514+38462dupAA",
"hgvs_p": null
},
{
"score": 2,
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"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "XR_007066731.1",
"gene_symbol": "LOC124900413",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.366-12182_366-12181dupAA",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}