← 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: 11-128810639-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=128810639&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 128810639,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000527786.7",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1010G>A",
"hgvs_p": "p.Arg337Gln",
"transcript": "NM_002017.5",
"protein_id": "NP_002008.2",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 452,
"cds_start": 1010,
"cds_end": null,
"cds_length": 1359,
"cdna_start": 1197,
"cdna_end": null,
"cdna_length": 3825,
"mane_select": "ENST00000527786.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1010G>A",
"hgvs_p": "p.Arg337Gln",
"transcript": "ENST00000527786.7",
"protein_id": "ENSP00000433488.2",
"transcript_support_level": 1,
"aa_start": 337,
"aa_end": null,
"aa_length": 452,
"cds_start": 1010,
"cds_end": null,
"cds_length": 1359,
"cdna_start": 1197,
"cdna_end": null,
"cdna_length": 3825,
"mane_select": "NM_002017.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.812G>A",
"hgvs_p": "p.Arg271Gln",
"transcript": "ENST00000281428.12",
"protein_id": "ENSP00000281428.8",
"transcript_support_level": 1,
"aa_start": 271,
"aa_end": null,
"aa_length": 386,
"cds_start": 812,
"cds_end": null,
"cds_length": 1161,
"cdna_start": 1524,
"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.*932G>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.*932G>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": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1031G>A",
"hgvs_p": "p.Arg344Gln",
"transcript": "ENST00000696982.1",
"protein_id": "ENSP00000513017.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 459,
"cds_start": 1031,
"cds_end": null,
"cds_length": 1380,
"cdna_start": 1159,
"cdna_end": null,
"cdna_length": 2940,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.911G>A",
"hgvs_p": "p.Arg304Gln",
"transcript": "NM_001167681.3",
"protein_id": "NP_001161153.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 419,
"cds_start": 911,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 1251,
"cdna_end": null,
"cdna_length": 3879,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.911G>A",
"hgvs_p": "p.Arg304Gln",
"transcript": "NM_001440369.1",
"protein_id": "NP_001427298.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 419,
"cds_start": 911,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 1074,
"cdna_end": null,
"cdna_length": 3702,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.911G>A",
"hgvs_p": "p.Arg304Gln",
"transcript": "NM_001440370.1",
"protein_id": "NP_001427299.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 419,
"cds_start": 911,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 1233,
"cdna_end": null,
"cdna_length": 3861,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.911G>A",
"hgvs_p": "p.Arg304Gln",
"transcript": "NM_001440371.1",
"protein_id": "NP_001427300.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 419,
"cds_start": 911,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 1310,
"cdna_end": null,
"cdna_length": 3938,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.911G>A",
"hgvs_p": "p.Arg304Gln",
"transcript": "ENST00000534087.3",
"protein_id": "ENSP00000432950.1",
"transcript_support_level": 2,
"aa_start": 304,
"aa_end": null,
"aa_length": 419,
"cds_start": 911,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 1231,
"cdna_end": null,
"cdna_length": 3859,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "FLI1",
"gene_hgnc_id": 3749,
"hgvs_c": "c.884G>A",
"hgvs_p": "p.Arg295Gln",
"transcript": "NM_001440372.1",
"protein_id": "NP_001427301.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 410,
"cds_start": 884,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 1071,
"cdna_end": null,
"cdna_length": 3699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.812G>A",
"hgvs_p": "p.Arg271Gln",
"transcript": "NM_001271010.2",
"protein_id": "NP_001257939.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 386,
"cds_start": 812,
"cds_end": null,
"cds_length": 1161,
"cdna_start": 1368,
"cdna_end": null,
"cdna_length": 3996,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "FLI1",
"gene_hgnc_id": 3749,
"hgvs_c": "c.431G>A",
"hgvs_p": "p.Arg144Gln",
"transcript": "NM_001271012.2",
"protein_id": "NP_001257941.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 259,
"cds_start": 431,
"cds_end": null,
"cds_length": 780,
"cdna_start": 800,
"cdna_end": null,
"cdna_length": 3428,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "FLI1",
"gene_hgnc_id": 3749,
"hgvs_c": "c.431G>A",
"hgvs_p": "p.Arg144Gln",
"transcript": "ENST00000344954.10",
"protein_id": "ENSP00000339627.7",
"transcript_support_level": 2,
"aa_start": 144,
"aa_end": null,
"aa_length": 259,
"cds_start": 431,
"cds_end": null,
"cds_length": 780,
"cdna_start": 800,
"cdna_end": null,
"cdna_length": 3427,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.911G>A",
"hgvs_p": "p.Arg304Gln",
"transcript": "XM_047426630.1",
"protein_id": "XP_047282586.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 419,
"cds_start": 911,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 1012,
"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.3593G>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.*402G>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.*402G>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": "rs1064797086",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9819655418395996,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.832,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9999,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.34,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.94,
"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": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM2,PM5,PP2,PP3_Strong,PP5",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PM2",
"PM5",
"PP2",
"PP3_Strong",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "ENST00000527786.7",
"gene_symbol": "FLI1",
"hgnc_id": 3749,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1010G>A",
"hgvs_p": "p.Arg337Gln"
}
],
"clinvar_disease": " 21, platelet-type,11q partial monosomy syndrome,Bleeding disorder,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "P:1 LP:2 US:1",
"phenotype_combined": "Bleeding disorder, platelet-type, 21|11q partial monosomy syndrome|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}