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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: 13-28018497-CATG-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=28018497&ref=CATG&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PM2",
"PM4_Supporting"
],
"effects": [
"disruptive_inframe_deletion"
],
"gene_symbol": "FLT3",
"hgnc_id": 3765,
"hgvs_c": "c.2508_2510delCAT",
"hgvs_p": "p.Ile836del",
"inheritance_mode": "AD",
"pathogenic_score": 5,
"score": 5,
"transcript": "NM_004119.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PM2,PM4_Supporting",
"acmg_score": 5,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "13",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 993,
"aa_ref": "IM",
"aa_start": 836,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3826,
"cdna_start": 2576,
"cds_end": null,
"cds_length": 2982,
"cds_start": 2508,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 24,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_004119.3",
"gene_hgnc_id": 3765,
"gene_symbol": "FLT3",
"hgvs_c": "c.2508_2510delCAT",
"hgvs_p": "p.Ile836del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000241453.12",
"protein_coding": true,
"protein_id": "NP_004110.2",
"strand": false,
"transcript": "NM_004119.3",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 993,
"aa_ref": "IM",
"aa_start": 836,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3826,
"cdna_start": 2576,
"cds_end": null,
"cds_length": 2982,
"cds_start": 2508,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 24,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000241453.12",
"gene_hgnc_id": 3765,
"gene_symbol": "FLT3",
"hgvs_c": "c.2508_2510delCAT",
"hgvs_p": "p.Ile836del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004119.3",
"protein_coding": true,
"protein_id": "ENSP00000241453.7",
"strand": false,
"transcript": "ENST00000241453.12",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3634,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 25,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000380987.2",
"gene_hgnc_id": 3765,
"gene_symbol": "FLT3",
"hgvs_c": "n.*420_*422delCAT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000370374.2",
"strand": false,
"transcript": "ENST00000380987.2",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3634,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 25,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000380987.2",
"gene_hgnc_id": 3765,
"gene_symbol": "FLT3",
"hgvs_c": "n.*420_*422delCAT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000370374.2",
"strand": false,
"transcript": "ENST00000380987.2",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 718,
"aa_ref": "IM",
"aa_start": 561,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3011,
"cdna_start": 1761,
"cds_end": null,
"cds_length": 2157,
"cds_start": 1683,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000864668.1",
"gene_hgnc_id": 3765,
"gene_symbol": "FLT3",
"hgvs_c": "c.1683_1685delCAT",
"hgvs_p": "p.Ile561del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534727.1",
"strand": false,
"transcript": "ENST00000864668.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 974,
"aa_ref": "IM",
"aa_start": 817,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3842,
"cdna_start": 2592,
"cds_end": null,
"cds_length": 2925,
"cds_start": 2451,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 24,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_011535015.3",
"gene_hgnc_id": 3765,
"gene_symbol": "FLT3",
"hgvs_c": "c.2451_2453delCAT",
"hgvs_p": "p.Ile817del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011533317.1",
"strand": false,
"transcript": "XM_011535015.3",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 921,
"aa_ref": "IM",
"aa_start": 764,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3610,
"cdna_start": 2360,
"cds_end": null,
"cds_length": 2766,
"cds_start": 2292,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 23,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_017020486.2",
"gene_hgnc_id": 3765,
"gene_symbol": "FLT3",
"hgvs_c": "c.2292_2294delCAT",
"hgvs_p": "p.Ile764del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016875975.1",
"strand": false,
"transcript": "XM_017020486.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 818,
"aa_ref": "IM",
"aa_start": 661,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3349,
"cdna_start": 2099,
"cds_end": null,
"cds_length": 2457,
"cds_start": 1983,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 21,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_011535018.3",
"gene_hgnc_id": 3765,
"gene_symbol": "FLT3",
"hgvs_c": "c.1983_1985delCAT",
"hgvs_p": "p.Ile661del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011533320.1",
"strand": false,
"transcript": "XM_011535018.3",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 818,
"aa_ref": "IM",
"aa_start": 661,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3447,
"cdna_start": 2197,
"cds_end": null,
"cds_length": 2457,
"cds_start": 1983,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 22,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_047430216.1",
"gene_hgnc_id": 3765,
"gene_symbol": "FLT3",
"hgvs_c": "c.1983_1985delCAT",
"hgvs_p": "p.Ile661del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047286172.1",
"strand": false,
"transcript": "XM_047430216.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 700,
"aa_ref": "IM",
"aa_start": 543,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3152,
"cdna_start": 1902,
"cds_end": null,
"cds_length": 2103,
"cds_start": 1629,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 20,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_017020488.2",
"gene_hgnc_id": 3765,
"gene_symbol": "FLT3",
"hgvs_c": "c.1629_1631delCAT",
"hgvs_p": "p.Ile543del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016875977.1",
"strand": false,
"transcript": "XM_017020488.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3958,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 25,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NR_130706.2",
"gene_hgnc_id": 3765,
"gene_symbol": "FLT3",
"hgvs_c": "n.2706_2708delCAT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_130706.2",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs121913490",
"effect": "disruptive_inframe_deletion",
"frequency_reference_population": null,
"gene_hgnc_id": 3765,
"gene_symbol": "FLT3",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 3.176,
"pos": 28018497,
"ref": "CATG",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.019999999552965164,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.02,
"transcript": "NM_004119.3"
}
]
}