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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: 13-28018483-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=28018483&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 28018483,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000241453.12",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLT3",
"gene_hgnc_id": 3765,
"hgvs_c": "c.2525A>G",
"hgvs_p": "p.Tyr842Cys",
"transcript": "NM_004119.3",
"protein_id": "NP_004110.2",
"transcript_support_level": null,
"aa_start": 842,
"aa_end": null,
"aa_length": 993,
"cds_start": 2525,
"cds_end": null,
"cds_length": 2982,
"cdna_start": 2591,
"cdna_end": null,
"cdna_length": 3826,
"mane_select": "ENST00000241453.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLT3",
"gene_hgnc_id": 3765,
"hgvs_c": "c.2525A>G",
"hgvs_p": "p.Tyr842Cys",
"transcript": "ENST00000241453.12",
"protein_id": "ENSP00000241453.7",
"transcript_support_level": 1,
"aa_start": 842,
"aa_end": null,
"aa_length": 993,
"cds_start": 2525,
"cds_end": null,
"cds_length": 2982,
"cdna_start": 2591,
"cdna_end": null,
"cdna_length": 3826,
"mane_select": "NM_004119.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLT3",
"gene_hgnc_id": 3765,
"hgvs_c": "n.*437A>G",
"hgvs_p": null,
"transcript": "ENST00000380987.2",
"protein_id": "ENSP00000370374.2",
"transcript_support_level": 1,
"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": 3634,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLT3",
"gene_hgnc_id": 3765,
"hgvs_c": "n.*437A>G",
"hgvs_p": null,
"transcript": "ENST00000380987.2",
"protein_id": "ENSP00000370374.2",
"transcript_support_level": 1,
"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": 3634,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLT3",
"gene_hgnc_id": 3765,
"hgvs_c": "c.2468A>G",
"hgvs_p": "p.Tyr823Cys",
"transcript": "XM_011535015.3",
"protein_id": "XP_011533317.1",
"transcript_support_level": null,
"aa_start": 823,
"aa_end": null,
"aa_length": 974,
"cds_start": 2468,
"cds_end": null,
"cds_length": 2925,
"cdna_start": 2607,
"cdna_end": null,
"cdna_length": 3842,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLT3",
"gene_hgnc_id": 3765,
"hgvs_c": "c.2309A>G",
"hgvs_p": "p.Tyr770Cys",
"transcript": "XM_017020486.2",
"protein_id": "XP_016875975.1",
"transcript_support_level": null,
"aa_start": 770,
"aa_end": null,
"aa_length": 921,
"cds_start": 2309,
"cds_end": null,
"cds_length": 2766,
"cdna_start": 2375,
"cdna_end": null,
"cdna_length": 3610,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLT3",
"gene_hgnc_id": 3765,
"hgvs_c": "c.2000A>G",
"hgvs_p": "p.Tyr667Cys",
"transcript": "XM_011535018.3",
"protein_id": "XP_011533320.1",
"transcript_support_level": null,
"aa_start": 667,
"aa_end": null,
"aa_length": 818,
"cds_start": 2000,
"cds_end": null,
"cds_length": 2457,
"cdna_start": 2114,
"cdna_end": null,
"cdna_length": 3349,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLT3",
"gene_hgnc_id": 3765,
"hgvs_c": "c.2000A>G",
"hgvs_p": "p.Tyr667Cys",
"transcript": "XM_047430216.1",
"protein_id": "XP_047286172.1",
"transcript_support_level": null,
"aa_start": 667,
"aa_end": null,
"aa_length": 818,
"cds_start": 2000,
"cds_end": null,
"cds_length": 2457,
"cdna_start": 2212,
"cdna_end": null,
"cdna_length": 3447,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLT3",
"gene_hgnc_id": 3765,
"hgvs_c": "c.1646A>G",
"hgvs_p": "p.Tyr549Cys",
"transcript": "XM_017020488.2",
"protein_id": "XP_016875977.1",
"transcript_support_level": null,
"aa_start": 549,
"aa_end": null,
"aa_length": 700,
"cds_start": 1646,
"cds_end": null,
"cds_length": 2103,
"cdna_start": 1917,
"cdna_end": null,
"cdna_length": 3152,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLT3",
"gene_hgnc_id": 3765,
"hgvs_c": "n.2723A>G",
"hgvs_p": null,
"transcript": "NR_130706.2",
"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": 3958,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FLT3",
"gene_hgnc_id": 3765,
"dbsnp": "rs376588714",
"frequency_reference_population": 0.000029119548,
"hom_count_reference_population": 0,
"allele_count_reference_population": 47,
"gnomad_exomes_af": 0.0000301006,
"gnomad_genomes_af": 0.0000197016,
"gnomad_exomes_ac": 44,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9757880568504333,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.925,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9363,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.37,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.017,
"phylop100way_prediction": "Pathogenic",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PP3_Strong,BS2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 4,
"pathogenic_score": 6,
"criteria": [
"PM1",
"PP3_Strong",
"BS2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000241453.12",
"gene_symbol": "FLT3",
"hgnc_id": 3765,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2525A>G",
"hgvs_p": "p.Tyr842Cys"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}