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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: 4-1022211-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=1022211&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 1022211,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_021923.3",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "E",
"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": "FGFRL1",
"gene_hgnc_id": 3693,
"hgvs_c": "c.88A>G",
"hgvs_p": "p.Lys30Glu",
"transcript": "NM_001004356.3",
"protein_id": "NP_001004356.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 504,
"cds_start": 88,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000510644.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001004356.3"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": true,
"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": "FGFRL1",
"gene_hgnc_id": 3693,
"hgvs_c": "c.88A>G",
"hgvs_p": "p.Lys30Glu",
"transcript": "ENST00000510644.6",
"protein_id": "ENSP00000425025.1",
"transcript_support_level": 1,
"aa_start": 30,
"aa_end": null,
"aa_length": 504,
"cds_start": 88,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001004356.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000510644.6"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFRL1",
"gene_hgnc_id": 3693,
"hgvs_c": "c.88A>G",
"hgvs_p": "p.Lys30Glu",
"transcript": "ENST00000264748.6",
"protein_id": "ENSP00000264748.6",
"transcript_support_level": 1,
"aa_start": 30,
"aa_end": null,
"aa_length": 504,
"cds_start": 88,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264748.6"
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "FGFRL1",
"gene_hgnc_id": 3693,
"hgvs_c": "c.88A>G",
"hgvs_p": "p.Lys30Glu",
"transcript": "ENST00000504138.5",
"protein_id": "ENSP00000423091.1",
"transcript_support_level": 1,
"aa_start": 30,
"aa_end": null,
"aa_length": 504,
"cds_start": 88,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000504138.5"
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "FGFRL1",
"gene_hgnc_id": 3693,
"hgvs_c": "c.88A>G",
"hgvs_p": "p.Lys30Glu",
"transcript": "NM_001004358.1",
"protein_id": "NP_001004358.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 504,
"cds_start": 88,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001004358.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "FGFRL1",
"gene_hgnc_id": 3693,
"hgvs_c": "c.88A>G",
"hgvs_p": "p.Lys30Glu",
"transcript": "NM_001370296.1",
"protein_id": "NP_001357225.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 504,
"cds_start": 88,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370296.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFRL1",
"gene_hgnc_id": 3693,
"hgvs_c": "c.88A>G",
"hgvs_p": "p.Lys30Glu",
"transcript": "NM_021923.3",
"protein_id": "NP_068742.2",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 504,
"cds_start": 88,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021923.3"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFRL1",
"gene_hgnc_id": 3693,
"hgvs_c": "c.88A>G",
"hgvs_p": "p.Lys30Glu",
"transcript": "ENST00000398484.6",
"protein_id": "ENSP00000381498.2",
"transcript_support_level": 5,
"aa_start": 30,
"aa_end": null,
"aa_length": 504,
"cds_start": 88,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398484.6"
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "FGFRL1",
"gene_hgnc_id": 3693,
"hgvs_c": "c.88A>G",
"hgvs_p": "p.Lys30Glu",
"transcript": "ENST00000890917.1",
"protein_id": "ENSP00000560976.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 504,
"cds_start": 88,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890917.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFRL1",
"gene_hgnc_id": 3693,
"hgvs_c": "c.88A>G",
"hgvs_p": "p.Lys30Glu",
"transcript": "ENST00000890918.1",
"protein_id": "ENSP00000560977.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 504,
"cds_start": 88,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890918.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "FGFRL1",
"gene_hgnc_id": 3693,
"hgvs_c": "c.88A>G",
"hgvs_p": "p.Lys30Glu",
"transcript": "ENST00000890919.1",
"protein_id": "ENSP00000560978.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 504,
"cds_start": 88,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890919.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "FGFRL1",
"gene_hgnc_id": 3693,
"hgvs_c": "c.88A>G",
"hgvs_p": "p.Lys30Glu",
"transcript": "ENST00000890920.1",
"protein_id": "ENSP00000560979.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 504,
"cds_start": 88,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890920.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFRL1",
"gene_hgnc_id": 3693,
"hgvs_c": "c.88A>G",
"hgvs_p": "p.Lys30Glu",
"transcript": "ENST00000940441.1",
"protein_id": "ENSP00000610500.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 504,
"cds_start": 88,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940441.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFRL1",
"gene_hgnc_id": 3693,
"hgvs_c": "c.88A>G",
"hgvs_p": "p.Lys30Glu",
"transcript": "ENST00000943807.1",
"protein_id": "ENSP00000613866.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 504,
"cds_start": 88,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943807.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFRL1",
"gene_hgnc_id": 3693,
"hgvs_c": "c.88A>G",
"hgvs_p": "p.Lys30Glu",
"transcript": "ENST00000943808.1",
"protein_id": "ENSP00000613867.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 504,
"cds_start": 88,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943808.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFRL1",
"gene_hgnc_id": 3693,
"hgvs_c": "c.88A>G",
"hgvs_p": "p.Lys30Glu",
"transcript": "ENST00000507339.5",
"protein_id": "ENSP00000424037.1",
"transcript_support_level": 4,
"aa_start": 30,
"aa_end": null,
"aa_length": 151,
"cds_start": 88,
"cds_end": null,
"cds_length": 457,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000507339.5"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFRL1",
"gene_hgnc_id": 3693,
"hgvs_c": "c.88A>G",
"hgvs_p": "p.Lys30Glu",
"transcript": "ENST00000512174.1",
"protein_id": "ENSP00000426740.1",
"transcript_support_level": 3,
"aa_start": 30,
"aa_end": null,
"aa_length": 79,
"cds_start": 88,
"cds_end": null,
"cds_length": 240,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000512174.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "FGFRL1",
"gene_hgnc_id": 3693,
"hgvs_c": "c.157A>G",
"hgvs_p": "p.Lys53Glu",
"transcript": "XM_024454092.2",
"protein_id": "XP_024309860.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 527,
"cds_start": 157,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024454092.2"
},
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "FGFRL1",
"gene_hgnc_id": 3693,
"hgvs_c": "c.80-1430A>G",
"hgvs_p": null,
"transcript": "ENST00000940442.1",
"protein_id": "ENSP00000610501.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 413,
"cds_start": null,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940442.1"
}
],
"gene_symbol": "FGFRL1",
"gene_hgnc_id": 3693,
"dbsnp": "rs761850703",
"frequency_reference_population": 0.000022188287,
"hom_count_reference_population": 0,
"allele_count_reference_population": 34,
"gnomad_exomes_af": 0.0000202856,
"gnomad_genomes_af": 0.0000394607,
"gnomad_exomes_ac": 28,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.12283739447593689,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.08,
"revel_prediction": "Benign",
"alphamissense_score": 0.2432,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.283,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_021923.3",
"gene_symbol": "FGFRL1",
"hgnc_id": 3693,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.88A>G",
"hgvs_p": "p.Lys30Glu"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not provided|not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}