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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: 4-1025103-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=1025103&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 1025103,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000510644.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFRL1",
"gene_hgnc_id": 3693,
"hgvs_c": "c.1271G>A",
"hgvs_p": "p.Arg424His",
"transcript": "NM_001004356.3",
"protein_id": "NP_001004356.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 504,
"cds_start": 1271,
"cds_end": null,
"cds_length": 1515,
"cdna_start": 1616,
"cdna_end": null,
"cdna_length": 3411,
"mane_select": "ENST00000510644.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFRL1",
"gene_hgnc_id": 3693,
"hgvs_c": "c.1271G>A",
"hgvs_p": "p.Arg424His",
"transcript": "ENST00000510644.6",
"protein_id": "ENSP00000425025.1",
"transcript_support_level": 1,
"aa_start": 424,
"aa_end": null,
"aa_length": 504,
"cds_start": 1271,
"cds_end": null,
"cds_length": 1515,
"cdna_start": 1616,
"cdna_end": null,
"cdna_length": 3411,
"mane_select": "NM_001004356.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFRL1",
"gene_hgnc_id": 3693,
"hgvs_c": "c.1271G>A",
"hgvs_p": "p.Arg424His",
"transcript": "ENST00000264748.6",
"protein_id": "ENSP00000264748.6",
"transcript_support_level": 1,
"aa_start": 424,
"aa_end": null,
"aa_length": 504,
"cds_start": 1271,
"cds_end": null,
"cds_length": 1515,
"cdna_start": 1306,
"cdna_end": null,
"cdna_length": 3100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFRL1",
"gene_hgnc_id": 3693,
"hgvs_c": "c.1271G>A",
"hgvs_p": "p.Arg424His",
"transcript": "ENST00000504138.5",
"protein_id": "ENSP00000423091.1",
"transcript_support_level": 1,
"aa_start": 424,
"aa_end": null,
"aa_length": 504,
"cds_start": 1271,
"cds_end": null,
"cds_length": 1515,
"cdna_start": 1419,
"cdna_end": null,
"cdna_length": 1663,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFRL1",
"gene_hgnc_id": 3693,
"hgvs_c": "c.1271G>A",
"hgvs_p": "p.Arg424His",
"transcript": "NM_001004358.1",
"protein_id": "NP_001004358.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 504,
"cds_start": 1271,
"cds_end": null,
"cds_length": 1515,
"cdna_start": 1303,
"cdna_end": null,
"cdna_length": 3098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFRL1",
"gene_hgnc_id": 3693,
"hgvs_c": "c.1271G>A",
"hgvs_p": "p.Arg424His",
"transcript": "NM_001370296.1",
"protein_id": "NP_001357225.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 504,
"cds_start": 1271,
"cds_end": null,
"cds_length": 1515,
"cdna_start": 1424,
"cdna_end": null,
"cdna_length": 3219,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFRL1",
"gene_hgnc_id": 3693,
"hgvs_c": "c.1271G>A",
"hgvs_p": "p.Arg424His",
"transcript": "NM_021923.3",
"protein_id": "NP_068742.2",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 504,
"cds_start": 1271,
"cds_end": null,
"cds_length": 1515,
"cdna_start": 1293,
"cdna_end": null,
"cdna_length": 3088,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFRL1",
"gene_hgnc_id": 3693,
"hgvs_c": "c.1271G>A",
"hgvs_p": "p.Arg424His",
"transcript": "ENST00000398484.6",
"protein_id": "ENSP00000381498.2",
"transcript_support_level": 5,
"aa_start": 424,
"aa_end": null,
"aa_length": 504,
"cds_start": 1271,
"cds_end": null,
"cds_length": 1515,
"cdna_start": 1851,
"cdna_end": null,
"cdna_length": 3639,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFRL1",
"gene_hgnc_id": 3693,
"hgvs_c": "c.1340G>A",
"hgvs_p": "p.Arg447His",
"transcript": "XM_024454092.2",
"protein_id": "XP_024309860.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 527,
"cds_start": 1340,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 2002,
"cdna_end": null,
"cdna_length": 3797,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FGFRL1",
"gene_hgnc_id": 3693,
"dbsnp": "rs4647931",
"frequency_reference_population": 0.000039736842,
"hom_count_reference_population": 0,
"allele_count_reference_population": 64,
"gnomad_exomes_af": 0.0000363402,
"gnomad_genomes_af": 0.0000722942,
"gnomad_exomes_ac": 53,
"gnomad_genomes_ac": 11,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3412395119667053,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.33,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1459,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.18,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.831,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "ENST00000510644.6",
"gene_symbol": "FGFRL1",
"hgnc_id": 3693,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1271G>A",
"hgvs_p": "p.Arg424His"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}