← Back to variant description
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: 13-28319505-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=28319505&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 21,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "FLT1",
"hgnc_id": 3763,
"hgvs_c": "c.3204T>C",
"hgvs_p": "p.Pro1068Pro",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -21,
"transcript": "NM_002019.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_score": -21,
"allele_count_reference_population": 325346,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.55,
"chr": "13",
"clinvar_classification": "Benign",
"clinvar_disease": "Carcinoma of colon,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2 O:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.550000011920929,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1338,
"aa_ref": "P",
"aa_start": 1068,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7123,
"cdna_start": 3489,
"cds_end": null,
"cds_length": 4017,
"cds_start": 3204,
"consequences": [
"synonymous_variant"
],
"exon_count": 30,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_002019.4",
"gene_hgnc_id": 3763,
"gene_symbol": "FLT1",
"hgvs_c": "c.3204T>C",
"hgvs_p": "p.Pro1068Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000282397.9",
"protein_coding": true,
"protein_id": "NP_002010.2",
"strand": false,
"transcript": "NM_002019.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1338,
"aa_ref": "P",
"aa_start": 1068,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7123,
"cdna_start": 3489,
"cds_end": null,
"cds_length": 4017,
"cds_start": 3204,
"consequences": [
"synonymous_variant"
],
"exon_count": 30,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000282397.9",
"gene_hgnc_id": 3763,
"gene_symbol": "FLT1",
"hgvs_c": "c.3204T>C",
"hgvs_p": "p.Pro1068Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002019.4",
"protein_coding": true,
"protein_id": "ENSP00000282397.4",
"strand": false,
"transcript": "ENST00000282397.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1927,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 17,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000540678.2",
"gene_hgnc_id": 3763,
"gene_symbol": "FLT1",
"hgvs_c": "n.1091T>C",
"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": "ENST00000540678.2",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1275,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000543394.2",
"gene_hgnc_id": 3763,
"gene_symbol": "FLT1",
"hgvs_c": "n.429T>C",
"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": "ENST00000543394.2",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1476,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000615611.4",
"gene_hgnc_id": 3763,
"gene_symbol": "FLT1",
"hgvs_c": "n.622T>C",
"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": "ENST00000615611.4",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1345,
"aa_ref": "P",
"aa_start": 1075,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7144,
"cdna_start": 3510,
"cds_end": null,
"cds_length": 4038,
"cds_start": 3225,
"consequences": [
"synonymous_variant"
],
"exon_count": 30,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000909998.1",
"gene_hgnc_id": 3763,
"gene_symbol": "FLT1",
"hgvs_c": "c.3225T>C",
"hgvs_p": "p.Pro1075Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580057.1",
"strand": false,
"transcript": "ENST00000909998.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1300,
"aa_ref": "P",
"aa_start": 1030,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4680,
"cdna_start": 3375,
"cds_end": null,
"cds_length": 3903,
"cds_start": 3090,
"consequences": [
"synonymous_variant"
],
"exon_count": 29,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000910000.1",
"gene_hgnc_id": 3763,
"gene_symbol": "FLT1",
"hgvs_c": "c.3090T>C",
"hgvs_p": "p.Pro1030Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580059.1",
"strand": false,
"transcript": "ENST00000910000.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1230,
"aa_ref": "P",
"aa_start": 960,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6799,
"cdna_start": 3165,
"cds_end": null,
"cds_length": 3693,
"cds_start": 2880,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000909997.1",
"gene_hgnc_id": 3763,
"gene_symbol": "FLT1",
"hgvs_c": "c.2880T>C",
"hgvs_p": "p.Pro960Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580056.1",
"strand": false,
"transcript": "ENST00000909997.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 703,
"aa_ref": "P",
"aa_start": 433,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5216,
"cdna_start": 1586,
"cds_end": null,
"cds_length": 2112,
"cds_start": 1299,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000909999.1",
"gene_hgnc_id": 3763,
"gene_symbol": "FLT1",
"hgvs_c": "c.1299T>C",
"hgvs_p": "p.Pro433Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580058.1",
"strand": false,
"transcript": "ENST00000909999.1",
"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": 1865,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000706527.1",
"gene_hgnc_id": 3763,
"gene_symbol": "FLT1",
"hgvs_c": "n.1029T>C",
"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": "ENST00000706527.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs2296189",
"effect": "synonymous_variant",
"frequency_reference_population": 0.20181528,
"gene_hgnc_id": 3763,
"gene_symbol": "FLT1",
"gnomad_exomes_ac": 293329,
"gnomad_exomes_af": 0.200921,
"gnomad_exomes_homalt": 32534,
"gnomad_genomes_ac": 32017,
"gnomad_genomes_af": 0.210395,
"gnomad_genomes_homalt": 3704,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 36238,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Benign",
"phenotype_combined": "Carcinoma of colon|not provided",
"phylop100way_prediction": "Benign",
"phylop100way_score": -2.741,
"pos": 28319505,
"ref": "A",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_002019.4"
}
]
}