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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: 19-49201994-CGGAGCCCGGCTTCTGGGCACACCCTCCT-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=49201994&ref=CGGAGCCCGGCTTCTGGGCACACCCTCCT&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 49201994,
"ref": "CGGAGCCCGGCTTCTGGGCACACCCTCCT",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "ENST00000252826.10",
"consequences": [
{
"aa_ref": "EPGFWAHPPG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM4",
"gene_hgnc_id": 17993,
"hgvs_c": "c.2987_3014delAGCCCGGCTTCTGGGCACACCCTCCTGG",
"hgvs_p": "p.Glu996fs",
"transcript": "NM_017636.4",
"protein_id": "NP_060106.2",
"transcript_support_level": null,
"aa_start": 996,
"aa_end": null,
"aa_length": 1214,
"cds_start": 2987,
"cds_end": null,
"cds_length": 3645,
"cdna_start": 3062,
"cdna_end": null,
"cdna_length": 4058,
"mane_select": "ENST00000252826.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EPGFWAHPPG",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM4",
"gene_hgnc_id": 17993,
"hgvs_c": "c.2987_3014delAGCCCGGCTTCTGGGCACACCCTCCTGG",
"hgvs_p": "p.Glu996fs",
"transcript": "ENST00000252826.10",
"protein_id": "ENSP00000252826.4",
"transcript_support_level": 1,
"aa_start": 996,
"aa_end": null,
"aa_length": 1214,
"cds_start": 2987,
"cds_end": null,
"cds_length": 3645,
"cdna_start": 3062,
"cdna_end": null,
"cdna_length": 4058,
"mane_select": "NM_017636.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EPGFWAHPPG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM4",
"gene_hgnc_id": 17993,
"hgvs_c": "c.2552_2579delAGCCCGGCTTCTGGGCACACCCTCCTGG",
"hgvs_p": "p.Glu851fs",
"transcript": "ENST00000427978.6",
"protein_id": "ENSP00000407492.1",
"transcript_support_level": 1,
"aa_start": 851,
"aa_end": null,
"aa_length": 1069,
"cds_start": 2552,
"cds_end": null,
"cds_length": 3210,
"cdna_start": 2604,
"cdna_end": null,
"cdna_length": 3444,
"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": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM4",
"gene_hgnc_id": 17993,
"hgvs_c": "n.*2397_*2424delAGCCCGGCTTCTGGGCACACCCTCCTGG",
"hgvs_p": null,
"transcript": "ENST00000595519.5",
"protein_id": "ENSP00000469893.1",
"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": 3702,
"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": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM4",
"gene_hgnc_id": 17993,
"hgvs_c": "n.*2100_*2127delAGCCCGGCTTCTGGGCACACCCTCCTGG",
"hgvs_p": null,
"transcript": "ENST00000598502.5",
"protein_id": "ENSP00000470229.1",
"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": 3695,
"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": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM4",
"gene_hgnc_id": 17993,
"hgvs_c": "n.*2397_*2424delAGCCCGGCTTCTGGGCACACCCTCCTGG",
"hgvs_p": null,
"transcript": "ENST00000595519.5",
"protein_id": "ENSP00000469893.1",
"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": 3702,
"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": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM4",
"gene_hgnc_id": 17993,
"hgvs_c": "n.*2100_*2127delAGCCCGGCTTCTGGGCACACCCTCCTGG",
"hgvs_p": null,
"transcript": "ENST00000598502.5",
"protein_id": "ENSP00000470229.1",
"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": 3695,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EPGFWAHPPG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM4",
"gene_hgnc_id": 17993,
"hgvs_c": "c.2642_2669delAGCCCGGCTTCTGGGCACACCCTCCTGG",
"hgvs_p": "p.Glu881fs",
"transcript": "NM_001321281.2",
"protein_id": "NP_001308210.1",
"transcript_support_level": null,
"aa_start": 881,
"aa_end": null,
"aa_length": 1099,
"cds_start": 2642,
"cds_end": null,
"cds_length": 3300,
"cdna_start": 2717,
"cdna_end": null,
"cdna_length": 3713,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EPGFWAHPPG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM4",
"gene_hgnc_id": 17993,
"hgvs_c": "c.2552_2579delAGCCCGGCTTCTGGGCACACCCTCCTGG",
"hgvs_p": "p.Glu851fs",
"transcript": "NM_001195227.2",
"protein_id": "NP_001182156.1",
"transcript_support_level": null,
"aa_start": 851,
"aa_end": null,
"aa_length": 1069,
"cds_start": 2552,
"cds_end": null,
"cds_length": 3210,
"cdna_start": 2627,
"cdna_end": null,
"cdna_length": 3623,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EPGFWAHPPG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM4",
"gene_hgnc_id": 17993,
"hgvs_c": "c.2465_2492delAGCCCGGCTTCTGGGCACACCCTCCTGG",
"hgvs_p": "p.Glu822fs",
"transcript": "NM_001321283.2",
"protein_id": "NP_001308212.1",
"transcript_support_level": null,
"aa_start": 822,
"aa_end": null,
"aa_length": 1040,
"cds_start": 2465,
"cds_end": null,
"cds_length": 3123,
"cdna_start": 2706,
"cdna_end": null,
"cdna_length": 3702,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EPGFWAHPPG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM4",
"gene_hgnc_id": 17993,
"hgvs_c": "c.1925_1952delAGCCCGGCTTCTGGGCACACCCTCCTGG",
"hgvs_p": "p.Glu642fs",
"transcript": "NM_001321285.2",
"protein_id": "NP_001308214.1",
"transcript_support_level": null,
"aa_start": 642,
"aa_end": null,
"aa_length": 860,
"cds_start": 1925,
"cds_end": null,
"cds_length": 2583,
"cdna_start": 2329,
"cdna_end": null,
"cdna_length": 3325,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EPGFWAHPPG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM4",
"gene_hgnc_id": 17993,
"hgvs_c": "c.1379_1406delAGCCCGGCTTCTGGGCACACCCTCCTGG",
"hgvs_p": "p.Glu460fs",
"transcript": "NM_001321282.2",
"protein_id": "NP_001308211.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 678,
"cds_start": 1379,
"cds_end": null,
"cds_length": 2037,
"cdna_start": 2826,
"cdna_end": null,
"cdna_length": 3822,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EPGFWAHPPG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM4",
"gene_hgnc_id": 17993,
"hgvs_c": "c.3458_3485delAGCCCGGCTTCTGGGCACACCCTCCTGG",
"hgvs_p": "p.Glu1153fs",
"transcript": "XM_047438992.1",
"protein_id": "XP_047294948.1",
"transcript_support_level": null,
"aa_start": 1153,
"aa_end": null,
"aa_length": 1371,
"cds_start": 3458,
"cds_end": null,
"cds_length": 4116,
"cdna_start": 4415,
"cdna_end": null,
"cdna_length": 5411,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EPGFWAHPPG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM4",
"gene_hgnc_id": 17993,
"hgvs_c": "c.1700_1727delAGCCCGGCTTCTGGGCACACCCTCCTGG",
"hgvs_p": "p.Glu567fs",
"transcript": "XM_047438993.1",
"protein_id": "XP_047294949.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 785,
"cds_start": 1700,
"cds_end": null,
"cds_length": 2358,
"cdna_start": 1820,
"cdna_end": null,
"cdna_length": 2816,
"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": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM4",
"gene_hgnc_id": 17993,
"hgvs_c": "n.1951_1978delAGCCCGGCTTCTGGGCACACCCTCCTGG",
"hgvs_p": null,
"transcript": "ENST00000595071.5",
"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": 2947,
"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": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM4",
"gene_hgnc_id": 17993,
"hgvs_c": "n.3084_3111delAGCCCGGCTTCTGGGCACACCCTCCTGG",
"hgvs_p": null,
"transcript": "ENST00000596338.5",
"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": 3993,
"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": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM4",
"gene_hgnc_id": 17993,
"hgvs_c": "n.*1942_*1969delAGCCCGGCTTCTGGGCACACCCTCCTGG",
"hgvs_p": null,
"transcript": "ENST00000598697.5",
"protein_id": "ENSP00000468989.1",
"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": 3349,
"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": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM4",
"gene_hgnc_id": 17993,
"hgvs_c": "n.*1942_*1969delAGCCCGGCTTCTGGGCACACCCTCCTGG",
"hgvs_p": null,
"transcript": "ENST00000598697.5",
"protein_id": "ENSP00000468989.1",
"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": 3349,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TRPM4",
"gene_hgnc_id": 17993,
"dbsnp": "rs765535147",
"frequency_reference_population": 0.000083653176,
"hom_count_reference_population": 1,
"allele_count_reference_population": 135,
"gnomad_exomes_af": 0.000085528,
"gnomad_genomes_af": 0.0000656616,
"gnomad_exomes_ac": 125,
"gnomad_genomes_ac": 10,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"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": 3.904,
"phylop100way_prediction": "Uncertain_significance",
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP6,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP6",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000252826.10",
"gene_symbol": "TRPM4",
"hgnc_id": 17993,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2987_3014delAGCCCGGCTTCTGGGCACACCCTCCTGG",
"hgvs_p": "p.Glu996fs"
}
],
"clinvar_disease": "Cardiovascular phenotype,Progressive familial heart block type IB,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:2",
"phenotype_combined": "not provided|Cardiovascular phenotype|Progressive familial heart block type IB",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}