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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: 16-309972-CGGGAATGTGAGGTAGGGGCACCCGCCCATTGA-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=309972&ref=CGGGAATGTGAGGTAGGGGCACCCGCCCATTGA&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 309972,
"ref": "CGGGAATGTGAGGTAGGGGCACCCGCCCATTGA",
"alt": "C",
"effect": "frameshift_variant,splice_region_variant",
"transcript": "ENST00000262320.8",
"consequences": [
{
"aa_ref": "VNGRVPLPHIP",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXIN1",
"gene_hgnc_id": 903,
"hgvs_c": "c.1085_1116delTCAATGGGCGGGTGCCCCTACCTCACATTCCC",
"hgvs_p": "p.Val362fs",
"transcript": "NM_003502.4",
"protein_id": "NP_003493.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 862,
"cds_start": 1085,
"cds_end": null,
"cds_length": 2589,
"cdna_start": 1552,
"cdna_end": null,
"cdna_length": 3707,
"mane_select": "ENST00000262320.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VNGRVPLPHIP",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXIN1",
"gene_hgnc_id": 903,
"hgvs_c": "c.1085_1116delTCAATGGGCGGGTGCCCCTACCTCACATTCCC",
"hgvs_p": "p.Val362fs",
"transcript": "ENST00000262320.8",
"protein_id": "ENSP00000262320.3",
"transcript_support_level": 1,
"aa_start": 362,
"aa_end": null,
"aa_length": 862,
"cds_start": 1085,
"cds_end": null,
"cds_length": 2589,
"cdna_start": 1552,
"cdna_end": null,
"cdna_length": 3707,
"mane_select": "NM_003502.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VNGRVPLPHIP",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXIN1",
"gene_hgnc_id": 903,
"hgvs_c": "c.1085_1116delTCAATGGGCGGGTGCCCCTACCTCACATTCCC",
"hgvs_p": "p.Val362fs",
"transcript": "ENST00000354866.7",
"protein_id": "ENSP00000346935.3",
"transcript_support_level": 1,
"aa_start": 362,
"aa_end": null,
"aa_length": 826,
"cds_start": 1085,
"cds_end": null,
"cds_length": 2481,
"cdna_start": 1278,
"cdna_end": null,
"cdna_length": 3324,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VNGRVPLPHIP",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXIN1",
"gene_hgnc_id": 903,
"hgvs_c": "c.1085_1116delTCAATGGGCGGGTGCCCCTACCTCACATTCCC",
"hgvs_p": "p.Val362fs",
"transcript": "NM_181050.3",
"protein_id": "NP_851393.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 826,
"cds_start": 1085,
"cds_end": null,
"cds_length": 2481,
"cdna_start": 1552,
"cdna_end": null,
"cdna_length": 3599,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VNGRVPLPHIP",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXIN1",
"gene_hgnc_id": 903,
"hgvs_c": "c.1232_1263delTCAATGGGCGGGTGCCCCTACCTCACATTCCC",
"hgvs_p": "p.Asn412fs",
"transcript": "XM_011522682.3",
"protein_id": "XP_011520984.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 916,
"cds_start": 1232,
"cds_end": null,
"cds_length": 2751,
"cdna_start": 1552,
"cdna_end": null,
"cdna_length": 3722,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VNGRVPLPHIP",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXIN1",
"gene_hgnc_id": 903,
"hgvs_c": "c.1232_1263delTCAATGGGCGGGTGCCCCTACCTCACATTCCC",
"hgvs_p": "p.Asn412fs",
"transcript": "XM_011522683.3",
"protein_id": "XP_011520985.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 880,
"cds_start": 1232,
"cds_end": null,
"cds_length": 2643,
"cdna_start": 1552,
"cdna_end": null,
"cdna_length": 3614,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VNGRVPLPHIP",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXIN1",
"gene_hgnc_id": 903,
"hgvs_c": "c.227_258delTCAATGGGCGGGTGCCCCTACCTCACATTCCC",
"hgvs_p": "p.Asn77fs",
"transcript": "XM_011522686.1",
"protein_id": "XP_011520988.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 581,
"cds_start": 227,
"cds_end": null,
"cds_length": 1746,
"cdna_start": 273,
"cdna_end": null,
"cdna_length": 2443,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VNGRVPLPHIP",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXIN1",
"gene_hgnc_id": 903,
"hgvs_c": "c.227_258delTCAATGGGCGGGTGCCCCTACCTCACATTCCC",
"hgvs_p": "p.Val76fs",
"transcript": "XM_047434731.1",
"protein_id": "XP_047290687.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 576,
"cds_start": 227,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 273,
"cdna_end": null,
"cdna_length": 2428,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VNGRVPLPHIP",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXIN1",
"gene_hgnc_id": 903,
"hgvs_c": "c.227_258delTCAATGGGCGGGTGCCCCTACCTCACATTCCC",
"hgvs_p": "p.Val76fs",
"transcript": "XM_047434732.1",
"protein_id": "XP_047290688.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 540,
"cds_start": 227,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 1337,
"cdna_end": null,
"cdna_length": 3384,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VNGRVPLPHIP",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXIN1",
"gene_hgnc_id": 903,
"hgvs_c": "c.20_51delTCAATGGGCGGGTGCCCCTACCTCACATTCCC",
"hgvs_p": "p.Asn8fs",
"transcript": "XM_017023746.2",
"protein_id": "XP_016879235.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 512,
"cds_start": 20,
"cds_end": null,
"cds_length": 1539,
"cdna_start": 1106,
"cdna_end": null,
"cdna_length": 3276,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VNGRVPLPHIP",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXIN1",
"gene_hgnc_id": 903,
"hgvs_c": "c.1232_1263delTCAATGGGCGGGTGCCCCTACCTCACATTCCC",
"hgvs_p": "p.Asn412fs",
"transcript": "XM_017023747.2",
"protein_id": "XP_016879236.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 479,
"cds_start": 1232,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 1552,
"cdna_end": null,
"cdna_length": 1744,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VNGRVPLPHIP",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXIN1",
"gene_hgnc_id": 903,
"hgvs_c": "c.1232_1263delTCAATGGGCGGGTGCCCCTACCTCACATTCCC",
"hgvs_p": "p.Asn412fs",
"transcript": "XM_017023748.2",
"protein_id": "XP_016879237.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 478,
"cds_start": 1232,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 1552,
"cdna_end": null,
"cdna_length": 1899,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXIN1",
"gene_hgnc_id": 903,
"hgvs_c": "n.382_413delTCAATGGGCGGGTGCCCCTACCTCACATTCCC",
"hgvs_p": null,
"transcript": "ENST00000461023.5",
"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": 6340,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXIN1",
"gene_hgnc_id": 903,
"hgvs_c": "n.512_543delTCAATGGGCGGGTGCCCCTACCTCACATTCCC",
"hgvs_p": null,
"transcript": "ENST00000481769.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 1089,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXIN1",
"gene_hgnc_id": 903,
"hgvs_c": "n.1521_1552delTCAATGGGCGGGTGCCCCTACCTCACATTCCC",
"hgvs_p": null,
"transcript": "XR_001751996.2",
"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": 3968,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "AXIN1",
"gene_hgnc_id": 903,
"hgvs_c": "n.1455+4539_1455+4570delTCAATGGGCGGGTGCCCCTACCTCACATTCCC",
"hgvs_p": null,
"transcript": "NR_134879.2",
"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": 3502,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "AXIN1",
"gene_hgnc_id": 903,
"hgvs_c": "c.276+4539_276+4570delTCAATGGGCGGGTGCCCCTACCTCACATTCCC",
"hgvs_p": null,
"transcript": "XM_017023745.3",
"protein_id": "XP_016879234.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 582,
"cds_start": -4,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2629,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "AXIN1",
"gene_hgnc_id": 903,
"dbsnp": "rs587776627",
"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": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 9.618,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 9,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PVS1,PP5",
"acmg_by_gene": [
{
"score": 9,
"benign_score": 0,
"pathogenic_score": 9,
"criteria": [
"PVS1",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000262320.8",
"gene_symbol": "AXIN1",
"hgnc_id": 903,
"effects": [
"frameshift_variant",
"splice_region_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1085_1116delTCAATGGGCGGGTGCCCCTACCTCACATTCCC",
"hgvs_p": "p.Val362fs"
}
],
"clinvar_disease": "Hepatocellular carcinoma",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Hepatocellular carcinoma",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}