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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: 5-75707853-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=75707853&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 75707853,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000428202.7",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC5",
"gene_hgnc_id": 26658,
"hgvs_c": "c.107A>C",
"hgvs_p": "p.His36Pro",
"transcript": "NM_001099271.2",
"protein_id": "NP_001092741.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 575,
"cds_start": 107,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 253,
"cdna_end": null,
"cdna_length": 2185,
"mane_select": "ENST00000428202.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC5",
"gene_hgnc_id": 26658,
"hgvs_c": "c.107A>C",
"hgvs_p": "p.His36Pro",
"transcript": "ENST00000428202.7",
"protein_id": "ENSP00000410216.2",
"transcript_support_level": 1,
"aa_start": 36,
"aa_end": null,
"aa_length": 575,
"cds_start": 107,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 253,
"cdna_end": null,
"cdna_length": 2185,
"mane_select": "NM_001099271.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC5",
"gene_hgnc_id": 26658,
"hgvs_c": "c.32A>C",
"hgvs_p": "p.His11Pro",
"transcript": "ENST00000446329.6",
"protein_id": "ENSP00000399481.2",
"transcript_support_level": 1,
"aa_start": 11,
"aa_end": null,
"aa_length": 550,
"cds_start": 32,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 103,
"cdna_end": null,
"cdna_length": 1728,
"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": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC5",
"gene_hgnc_id": 26658,
"hgvs_c": "n.310A>C",
"hgvs_p": null,
"transcript": "ENST00000512125.5",
"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": 975,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC5",
"gene_hgnc_id": 26658,
"hgvs_c": "c.32A>C",
"hgvs_p": "p.His11Pro",
"transcript": "NM_152408.3",
"protein_id": "NP_689621.2",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 550,
"cds_start": 32,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 80,
"cdna_end": null,
"cdna_length": 2012,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC5",
"gene_hgnc_id": 26658,
"hgvs_c": "c.107A>C",
"hgvs_p": "p.His36Pro",
"transcript": "ENST00000514838.6",
"protein_id": "ENSP00000420971.1",
"transcript_support_level": 5,
"aa_start": 36,
"aa_end": null,
"aa_length": 547,
"cds_start": 107,
"cds_end": null,
"cds_length": 1644,
"cdna_start": 214,
"cdna_end": null,
"cdna_length": 1984,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC5",
"gene_hgnc_id": 26658,
"hgvs_c": "c.107A>C",
"hgvs_p": "p.His36Pro",
"transcript": "XM_005248436.2",
"protein_id": "XP_005248493.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 547,
"cds_start": 107,
"cds_end": null,
"cds_length": 1644,
"cdna_start": 253,
"cdna_end": null,
"cdna_length": 2101,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC5",
"gene_hgnc_id": 26658,
"hgvs_c": "c.107A>C",
"hgvs_p": "p.His36Pro",
"transcript": "XM_011543158.3",
"protein_id": "XP_011541460.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 516,
"cds_start": 107,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 253,
"cdna_end": null,
"cdna_length": 2008,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC5",
"gene_hgnc_id": 26658,
"hgvs_c": "c.107A>C",
"hgvs_p": "p.His36Pro",
"transcript": "XM_047416725.1",
"protein_id": "XP_047272681.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 488,
"cds_start": 107,
"cds_end": null,
"cds_length": 1467,
"cdna_start": 253,
"cdna_end": null,
"cdna_length": 1924,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC5",
"gene_hgnc_id": 26658,
"hgvs_c": "c.107A>C",
"hgvs_p": "p.His36Pro",
"transcript": "XM_024454362.2",
"protein_id": "XP_024310130.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 415,
"cds_start": 107,
"cds_end": null,
"cds_length": 1248,
"cdna_start": 253,
"cdna_end": null,
"cdna_length": 1656,
"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": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC5",
"gene_hgnc_id": 26658,
"hgvs_c": "n.91A>C",
"hgvs_p": null,
"transcript": "ENST00000504862.5",
"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": 692,
"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": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC5",
"gene_hgnc_id": 26658,
"hgvs_c": "n.219A>C",
"hgvs_p": null,
"transcript": "ENST00000507421.1",
"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": 588,
"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": "POC5",
"gene_hgnc_id": 26658,
"hgvs_c": "n.246A>C",
"hgvs_p": null,
"transcript": "ENST00000508467.5",
"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": 577,
"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": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC5",
"gene_hgnc_id": 26658,
"hgvs_c": "n.166A>C",
"hgvs_p": null,
"transcript": "ENST00000515285.5",
"protein_id": "ENSP00000425885.1",
"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": 785,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC5",
"gene_hgnc_id": 26658,
"hgvs_c": "c.-245A>C",
"hgvs_p": null,
"transcript": "ENST00000510798.5",
"protein_id": "ENSP00000426796.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 399,
"cds_start": -4,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1524,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC5",
"gene_hgnc_id": 26658,
"hgvs_c": "c.-245A>C",
"hgvs_p": null,
"transcript": "ENST00000503835.5",
"protein_id": "ENSP00000424264.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 161,
"cds_start": -4,
"cds_end": null,
"cds_length": 486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 896,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC5",
"gene_hgnc_id": 26658,
"hgvs_c": "c.-245A>C",
"hgvs_p": null,
"transcript": "XM_011543160.2",
"protein_id": "XP_011541462.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 458,
"cds_start": -4,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2087,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC5",
"gene_hgnc_id": 26658,
"hgvs_c": "c.-245A>C",
"hgvs_p": null,
"transcript": "XM_047416726.1",
"protein_id": "XP_047272682.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 458,
"cds_start": -4,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2009,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC5",
"gene_hgnc_id": 26658,
"hgvs_c": "c.-245A>C",
"hgvs_p": null,
"transcript": "XM_047416727.1",
"protein_id": "XP_047272683.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 458,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 2008,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC5",
"gene_hgnc_id": 26658,
"hgvs_c": "c.-245A>C",
"hgvs_p": null,
"transcript": "XM_024454363.2",
"protein_id": "XP_024310131.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 298,
"cds_start": -4,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1558,
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "POC5",
"gene_hgnc_id": 26658,
"hgvs_c": "c.-128-2066A>C",
"hgvs_p": null,
"transcript": "ENST00000502826.5",
"protein_id": "ENSP00000425726.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 49,
"cds_start": -4,
"cds_end": null,
"cds_length": 152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 401,
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "POC5",
"gene_hgnc_id": 26658,
"hgvs_c": "c.-128-2066A>C",
"hgvs_p": null,
"transcript": "ENST00000506164.5",
"protein_id": "ENSP00000425108.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 31,
"cds_start": -4,
"cds_end": null,
"cds_length": 97,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 443,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "POC5",
"gene_hgnc_id": 26658,
"dbsnp": "rs2307111",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.16141438484191895,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.136,
"revel_prediction": "Benign",
"alphamissense_score": 0.3587,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.058,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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": "ENST00000428202.7",
"gene_symbol": "POC5",
"hgnc_id": 26658,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.107A>C",
"hgvs_p": "p.His36Pro"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}