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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: 11-128810599-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=128810599&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 128810599,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000527786.7",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLI1",
"gene_hgnc_id": 3749,
"hgvs_c": "c.970C>A",
"hgvs_p": "p.Arg324Arg",
"transcript": "NM_002017.5",
"protein_id": "NP_002008.2",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 452,
"cds_start": 970,
"cds_end": null,
"cds_length": 1359,
"cdna_start": 1157,
"cdna_end": null,
"cdna_length": 3825,
"mane_select": "ENST00000527786.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLI1",
"gene_hgnc_id": 3749,
"hgvs_c": "c.970C>A",
"hgvs_p": "p.Arg324Arg",
"transcript": "ENST00000527786.7",
"protein_id": "ENSP00000433488.2",
"transcript_support_level": 1,
"aa_start": 324,
"aa_end": null,
"aa_length": 452,
"cds_start": 970,
"cds_end": null,
"cds_length": 1359,
"cdna_start": 1157,
"cdna_end": null,
"cdna_length": 3825,
"mane_select": "NM_002017.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLI1",
"gene_hgnc_id": 3749,
"hgvs_c": "c.772C>A",
"hgvs_p": "p.Arg258Arg",
"transcript": "ENST00000281428.12",
"protein_id": "ENSP00000281428.8",
"transcript_support_level": 1,
"aa_start": 258,
"aa_end": null,
"aa_length": 386,
"cds_start": 772,
"cds_end": null,
"cds_length": 1161,
"cdna_start": 1484,
"cdna_end": null,
"cdna_length": 4151,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLI1",
"gene_hgnc_id": 3749,
"hgvs_c": "n.*892C>A",
"hgvs_p": null,
"transcript": "ENST00000429175.7",
"protein_id": "ENSP00000399985.3",
"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": 3130,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLI1",
"gene_hgnc_id": 3749,
"hgvs_c": "n.*892C>A",
"hgvs_p": null,
"transcript": "ENST00000429175.7",
"protein_id": "ENSP00000399985.3",
"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": 3130,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLI1",
"gene_hgnc_id": 3749,
"hgvs_c": "c.991C>A",
"hgvs_p": "p.Arg331Arg",
"transcript": "ENST00000696982.1",
"protein_id": "ENSP00000513017.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 459,
"cds_start": 991,
"cds_end": null,
"cds_length": 1380,
"cdna_start": 1119,
"cdna_end": null,
"cdna_length": 2940,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLI1",
"gene_hgnc_id": 3749,
"hgvs_c": "c.871C>A",
"hgvs_p": "p.Arg291Arg",
"transcript": "NM_001167681.3",
"protein_id": "NP_001161153.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 419,
"cds_start": 871,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 1211,
"cdna_end": null,
"cdna_length": 3879,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLI1",
"gene_hgnc_id": 3749,
"hgvs_c": "c.871C>A",
"hgvs_p": "p.Arg291Arg",
"transcript": "NM_001440369.1",
"protein_id": "NP_001427298.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 419,
"cds_start": 871,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 1034,
"cdna_end": null,
"cdna_length": 3702,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLI1",
"gene_hgnc_id": 3749,
"hgvs_c": "c.871C>A",
"hgvs_p": "p.Arg291Arg",
"transcript": "NM_001440370.1",
"protein_id": "NP_001427299.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 419,
"cds_start": 871,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 1193,
"cdna_end": null,
"cdna_length": 3861,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLI1",
"gene_hgnc_id": 3749,
"hgvs_c": "c.871C>A",
"hgvs_p": "p.Arg291Arg",
"transcript": "NM_001440371.1",
"protein_id": "NP_001427300.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 419,
"cds_start": 871,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 1270,
"cdna_end": null,
"cdna_length": 3938,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLI1",
"gene_hgnc_id": 3749,
"hgvs_c": "c.871C>A",
"hgvs_p": "p.Arg291Arg",
"transcript": "ENST00000534087.3",
"protein_id": "ENSP00000432950.1",
"transcript_support_level": 2,
"aa_start": 291,
"aa_end": null,
"aa_length": 419,
"cds_start": 871,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 1191,
"cdna_end": null,
"cdna_length": 3859,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLI1",
"gene_hgnc_id": 3749,
"hgvs_c": "c.844C>A",
"hgvs_p": "p.Arg282Arg",
"transcript": "NM_001440372.1",
"protein_id": "NP_001427301.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 410,
"cds_start": 844,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 1031,
"cdna_end": null,
"cdna_length": 3699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLI1",
"gene_hgnc_id": 3749,
"hgvs_c": "c.772C>A",
"hgvs_p": "p.Arg258Arg",
"transcript": "NM_001271010.2",
"protein_id": "NP_001257939.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 386,
"cds_start": 772,
"cds_end": null,
"cds_length": 1161,
"cdna_start": 1328,
"cdna_end": null,
"cdna_length": 3996,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLI1",
"gene_hgnc_id": 3749,
"hgvs_c": "c.391C>A",
"hgvs_p": "p.Arg131Arg",
"transcript": "NM_001271012.2",
"protein_id": "NP_001257941.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 259,
"cds_start": 391,
"cds_end": null,
"cds_length": 780,
"cdna_start": 760,
"cdna_end": null,
"cdna_length": 3428,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLI1",
"gene_hgnc_id": 3749,
"hgvs_c": "c.391C>A",
"hgvs_p": "p.Arg131Arg",
"transcript": "ENST00000344954.10",
"protein_id": "ENSP00000339627.7",
"transcript_support_level": 2,
"aa_start": 131,
"aa_end": null,
"aa_length": 259,
"cds_start": 391,
"cds_end": null,
"cds_length": 780,
"cdna_start": 760,
"cdna_end": null,
"cdna_length": 3427,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLI1",
"gene_hgnc_id": 3749,
"hgvs_c": "c.871C>A",
"hgvs_p": "p.Arg291Arg",
"transcript": "XM_047426630.1",
"protein_id": "XP_047282586.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 419,
"cds_start": 871,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 972,
"cdna_end": null,
"cdna_length": 3640,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLI1",
"gene_hgnc_id": 3749,
"hgvs_c": "n.3553C>A",
"hgvs_p": null,
"transcript": "ENST00000528790.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 5370,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLI1",
"gene_hgnc_id": 3749,
"hgvs_c": "n.*362C>A",
"hgvs_p": null,
"transcript": "ENST00000608303.5",
"protein_id": "ENSP00000477262.1",
"transcript_support_level": 2,
"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": 2577,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLI1",
"gene_hgnc_id": 3749,
"hgvs_c": "n.*362C>A",
"hgvs_p": null,
"transcript": "ENST00000608303.5",
"protein_id": "ENSP00000477262.1",
"transcript_support_level": 2,
"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": 2577,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FLI1",
"gene_hgnc_id": 3749,
"dbsnp": "rs773148506",
"frequency_reference_population": 0.0000012394892,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 6.84273e-7,
"gnomad_genomes_af": 0.00000657194,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.20999999344348907,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.21,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.182,
"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": "PM2,BP4_Moderate,BP7",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 3,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000527786.7",
"gene_symbol": "FLI1",
"hgnc_id": 3749,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.970C>A",
"hgvs_p": "p.Arg324Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}