← 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: 4-186288454-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=186288454&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 186288454,
"ref": "G",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000403665.7",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.1718G>A",
"hgvs_p": "p.Gly573Glu",
"transcript": "NM_000128.4",
"protein_id": "NP_000119.1",
"transcript_support_level": null,
"aa_start": 573,
"aa_end": null,
"aa_length": 625,
"cds_start": 1718,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 1826,
"cdna_end": null,
"cdna_length": 3053,
"mane_select": "ENST00000403665.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.1718G>A",
"hgvs_p": "p.Gly573Glu",
"transcript": "ENST00000403665.7",
"protein_id": "ENSP00000384957.2",
"transcript_support_level": 1,
"aa_start": 573,
"aa_end": null,
"aa_length": 625,
"cds_start": 1718,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 1826,
"cdna_end": null,
"cdna_length": 3053,
"mane_select": "NM_000128.4",
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F11-AS1",
"gene_hgnc_id": 27725,
"hgvs_c": "n.979C>T",
"hgvs_p": null,
"transcript": "ENST00000505103.5",
"protein_id": null,
"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": 1178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.1670G>A",
"hgvs_p": "p.Gly557Glu",
"transcript": "NM_001440590.1",
"protein_id": "NP_001427519.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 609,
"cds_start": 1670,
"cds_end": null,
"cds_length": 1830,
"cdna_start": 1778,
"cdna_end": null,
"cdna_length": 4034,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.1622G>A",
"hgvs_p": "p.Gly541Glu",
"transcript": "NM_001440593.1",
"protein_id": "NP_001427522.1",
"transcript_support_level": null,
"aa_start": 541,
"aa_end": null,
"aa_length": 593,
"cds_start": 1622,
"cds_end": null,
"cds_length": 1782,
"cdna_start": 1730,
"cdna_end": null,
"cdna_length": 3986,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.1574G>A",
"hgvs_p": "p.Gly525Glu",
"transcript": "NM_001440596.1",
"protein_id": "NP_001427525.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 577,
"cds_start": 1574,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 1682,
"cdna_end": null,
"cdna_length": 3938,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.1448G>A",
"hgvs_p": "p.Gly483Glu",
"transcript": "NM_001440605.1",
"protein_id": "NP_001427534.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 535,
"cds_start": 1448,
"cds_end": null,
"cds_length": 1608,
"cdna_start": 1556,
"cdna_end": null,
"cdna_length": 3812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.1400G>A",
"hgvs_p": "p.Gly467Glu",
"transcript": "NM_001440606.1",
"protein_id": "NP_001427535.1",
"transcript_support_level": null,
"aa_start": 467,
"aa_end": null,
"aa_length": 519,
"cds_start": 1400,
"cds_end": null,
"cds_length": 1560,
"cdna_start": 1508,
"cdna_end": null,
"cdna_length": 3764,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.1352G>A",
"hgvs_p": "p.Gly451Glu",
"transcript": "NM_001440607.1",
"protein_id": "NP_001427536.1",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 503,
"cds_start": 1352,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 1460,
"cdna_end": null,
"cdna_length": 3716,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.1304G>A",
"hgvs_p": "p.Gly435Glu",
"transcript": "NM_001440608.1",
"protein_id": "NP_001427537.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 487,
"cds_start": 1304,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 1412,
"cdna_end": null,
"cdna_length": 3668,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.317G>A",
"hgvs_p": "p.Gly106Glu",
"transcript": "ENST00000264691.4",
"protein_id": "ENSP00000264691.4",
"transcript_support_level": 3,
"aa_start": 106,
"aa_end": null,
"aa_length": 158,
"cds_start": 317,
"cds_end": null,
"cds_length": 477,
"cdna_start": 318,
"cdna_end": null,
"cdna_length": 670,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.1721G>A",
"hgvs_p": "p.Gly574Glu",
"transcript": "XM_005262821.5",
"protein_id": "XP_005262878.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 626,
"cds_start": 1721,
"cds_end": null,
"cds_length": 1881,
"cdna_start": 1829,
"cdna_end": null,
"cdna_length": 3056,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.1673G>A",
"hgvs_p": "p.Gly558Glu",
"transcript": "XM_006714137.4",
"protein_id": "XP_006714200.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 610,
"cds_start": 1673,
"cds_end": null,
"cds_length": 1833,
"cdna_start": 1781,
"cdna_end": null,
"cdna_length": 3008,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.1625G>A",
"hgvs_p": "p.Gly542Glu",
"transcript": "XM_005262822.5",
"protein_id": "XP_005262879.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 594,
"cds_start": 1625,
"cds_end": null,
"cds_length": 1785,
"cdna_start": 1733,
"cdna_end": null,
"cdna_length": 2960,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.1451G>A",
"hgvs_p": "p.Gly484Glu",
"transcript": "XM_005262823.5",
"protein_id": "XP_005262880.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 536,
"cds_start": 1451,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 1559,
"cdna_end": null,
"cdna_length": 2786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "n.237G>A",
"hgvs_p": null,
"transcript": "ENST00000503841.1",
"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": 563,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F11-AS1",
"gene_hgnc_id": 27725,
"hgvs_c": "n.1040C>T",
"hgvs_p": null,
"transcript": "NR_033900.1",
"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": 1235,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"dbsnp": "rs754109115",
"frequency_reference_population": 0.0000024783608,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000205229,
"gnomad_genomes_af": 0.00000657082,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.982309103012085,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.5600000023841858,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "max_spliceai",
"revel_score": 0.985,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.8642,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.57,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.497,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.56,
"spliceai_max_prediction": "Pathogenic",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PP2,PP3,PP5_Moderate",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PM1",
"PM2",
"PP2",
"PP3",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000403665.7",
"gene_symbol": "F11",
"hgnc_id": 3529,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AD,AR,SD",
"hgvs_c": "c.1718G>A",
"hgvs_p": "p.Gly573Glu"
},
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM2",
"PP3",
"PP5_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000505103.5",
"gene_symbol": "F11-AS1",
"hgnc_id": 27725,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.979C>T",
"hgvs_p": null
}
],
"clinvar_disease": "Hereditary factor XI deficiency disease",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Hereditary factor XI deficiency disease",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}