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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: 17-55773832-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=55773832&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 55773832,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_021213.4",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCTP",
"gene_hgnc_id": 8752,
"hgvs_c": "c.448A>G",
"hgvs_p": "p.Ile150Val",
"transcript": "NM_021213.4",
"protein_id": "NP_067036.2",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 214,
"cds_start": 448,
"cds_end": null,
"cds_length": 645,
"cdna_start": 501,
"cdna_end": null,
"cdna_length": 1972,
"mane_select": "ENST00000268896.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCTP",
"gene_hgnc_id": 8752,
"hgvs_c": "c.448A>G",
"hgvs_p": "p.Ile150Val",
"transcript": "ENST00000268896.10",
"protein_id": "ENSP00000268896.4",
"transcript_support_level": 1,
"aa_start": 150,
"aa_end": null,
"aa_length": 214,
"cds_start": 448,
"cds_end": null,
"cds_length": 645,
"cdna_start": 501,
"cdna_end": null,
"cdna_length": 1972,
"mane_select": "NM_021213.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCTP",
"gene_hgnc_id": 8752,
"hgvs_c": "c.232A>G",
"hgvs_p": "p.Ile78Val",
"transcript": "ENST00000325214.10",
"protein_id": "ENSP00000325181.5",
"transcript_support_level": 1,
"aa_start": 78,
"aa_end": null,
"aa_length": 142,
"cds_start": 232,
"cds_end": null,
"cds_length": 429,
"cdna_start": 385,
"cdna_end": null,
"cdna_length": 1856,
"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": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCTP",
"gene_hgnc_id": 8752,
"hgvs_c": "n.2448A>G",
"hgvs_p": null,
"transcript": "ENST00000571489.5",
"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": 3932,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCTP",
"gene_hgnc_id": 8752,
"hgvs_c": "c.448A>G",
"hgvs_p": "p.Ile150Val",
"transcript": "NM_001330378.3",
"protein_id": "NP_001317307.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 219,
"cds_start": 448,
"cds_end": null,
"cds_length": 660,
"cdna_start": 501,
"cdna_end": null,
"cdna_length": 1009,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCTP",
"gene_hgnc_id": 8752,
"hgvs_c": "c.448A>G",
"hgvs_p": "p.Ile150Val",
"transcript": "ENST00000573500.5",
"protein_id": "ENSP00000460437.1",
"transcript_support_level": 3,
"aa_start": 150,
"aa_end": null,
"aa_length": 219,
"cds_start": 448,
"cds_end": null,
"cds_length": 660,
"cdna_start": 458,
"cdna_end": null,
"cdna_length": 919,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCTP",
"gene_hgnc_id": 8752,
"hgvs_c": "c.448A>G",
"hgvs_p": "p.Ile150Val",
"transcript": "NM_001330377.2",
"protein_id": "NP_001317306.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 203,
"cds_start": 448,
"cds_end": null,
"cds_length": 612,
"cdna_start": 501,
"cdna_end": null,
"cdna_length": 2696,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCTP",
"gene_hgnc_id": 8752,
"hgvs_c": "c.448A>G",
"hgvs_p": "p.Ile150Val",
"transcript": "ENST00000576183.5",
"protein_id": "ENSP00000459793.1",
"transcript_support_level": 3,
"aa_start": 150,
"aa_end": null,
"aa_length": 203,
"cds_start": 448,
"cds_end": null,
"cds_length": 612,
"cdna_start": 491,
"cdna_end": null,
"cdna_length": 2680,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCTP",
"gene_hgnc_id": 8752,
"hgvs_c": "c.97A>G",
"hgvs_p": "p.Ile33Val",
"transcript": "ENST00000572536.1",
"protein_id": "ENSP00000461676.1",
"transcript_support_level": 3,
"aa_start": 33,
"aa_end": null,
"aa_length": 146,
"cds_start": 97,
"cds_end": null,
"cds_length": 441,
"cdna_start": 97,
"cdna_end": null,
"cdna_length": 647,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCTP",
"gene_hgnc_id": 8752,
"hgvs_c": "c.232A>G",
"hgvs_p": "p.Ile78Val",
"transcript": "NM_001102402.3",
"protein_id": "NP_001095872.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 142,
"cds_start": 232,
"cds_end": null,
"cds_length": 429,
"cdna_start": 734,
"cdna_end": null,
"cdna_length": 2205,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCTP",
"gene_hgnc_id": 8752,
"hgvs_c": "c.448A>G",
"hgvs_p": "p.Ile150Val",
"transcript": "XM_047436499.1",
"protein_id": "XP_047292455.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 219,
"cds_start": 448,
"cds_end": null,
"cds_length": 660,
"cdna_start": 501,
"cdna_end": null,
"cdna_length": 1580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCTP",
"gene_hgnc_id": 8752,
"hgvs_c": "c.448A>G",
"hgvs_p": "p.Ile150Val",
"transcript": "XM_047436500.1",
"protein_id": "XP_047292456.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 219,
"cds_start": 448,
"cds_end": null,
"cds_length": 660,
"cdna_start": 501,
"cdna_end": null,
"cdna_length": 1112,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCTP",
"gene_hgnc_id": 8752,
"hgvs_c": "c.448A>G",
"hgvs_p": "p.Ile150Val",
"transcript": "XM_047436501.1",
"protein_id": "XP_047292457.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 219,
"cds_start": 448,
"cds_end": null,
"cds_length": 660,
"cdna_start": 501,
"cdna_end": null,
"cdna_length": 1443,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCTP",
"gene_hgnc_id": 8752,
"hgvs_c": "c.232A>G",
"hgvs_p": "p.Ile78Val",
"transcript": "XM_047436502.1",
"protein_id": "XP_047292458.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 147,
"cds_start": 232,
"cds_end": null,
"cds_length": 444,
"cdna_start": 734,
"cdna_end": null,
"cdna_length": 1813,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCTP",
"gene_hgnc_id": 8752,
"hgvs_c": "c.232A>G",
"hgvs_p": "p.Ile78Val",
"transcript": "XM_047436503.1",
"protein_id": "XP_047292459.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 147,
"cds_start": 232,
"cds_end": null,
"cds_length": 444,
"cdna_start": 3012,
"cdna_end": null,
"cdna_length": 4091,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCTP",
"gene_hgnc_id": 8752,
"hgvs_c": "c.232A>G",
"hgvs_p": "p.Ile78Val",
"transcript": "XM_017024913.2",
"protein_id": "XP_016880402.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 131,
"cds_start": 232,
"cds_end": null,
"cds_length": 396,
"cdna_start": 734,
"cdna_end": null,
"cdna_length": 2929,
"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": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCTP",
"gene_hgnc_id": 8752,
"hgvs_c": "n.*121A>G",
"hgvs_p": null,
"transcript": "ENST00000417982.6",
"protein_id": "ENSP00000415185.2",
"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": 2234,
"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": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCTP",
"gene_hgnc_id": 8752,
"hgvs_c": "n.118A>G",
"hgvs_p": null,
"transcript": "ENST00000576221.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 609,
"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": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCTP",
"gene_hgnc_id": 8752,
"hgvs_c": "n.*121A>G",
"hgvs_p": null,
"transcript": "ENST00000417982.6",
"protein_id": "ENSP00000415185.2",
"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": 2234,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCTP",
"gene_hgnc_id": 8752,
"hgvs_c": "c.*121A>G",
"hgvs_p": null,
"transcript": "XM_047436504.1",
"protein_id": "XP_047292460.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 136,
"cds_start": -4,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 496,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PCTP",
"gene_hgnc_id": 8752,
"dbsnp": "rs953661987",
"frequency_reference_population": 0.0000043394866,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000410633,
"gnomad_genomes_af": 0.00000658172,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.18831241130828857,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.175,
"revel_prediction": "Benign",
"alphamissense_score": 0.1197,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.56,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.361,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_021213.4",
"gene_symbol": "PCTP",
"hgnc_id": 8752,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.448A>G",
"hgvs_p": "p.Ile150Val"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}