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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: 5-75677804-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=75677804&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 75677804,
"ref": "A",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_001099271.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC5",
"gene_hgnc_id": 26658,
"hgvs_c": "c.1554T>G",
"hgvs_p": "p.Val518Val",
"transcript": "NM_001099271.2",
"protein_id": "NP_001092741.1",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 575,
"cds_start": 1554,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 1700,
"cdna_end": null,
"cdna_length": 2185,
"mane_select": "ENST00000428202.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001099271.2"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC5",
"gene_hgnc_id": 26658,
"hgvs_c": "c.1554T>G",
"hgvs_p": "p.Val518Val",
"transcript": "ENST00000428202.7",
"protein_id": "ENSP00000410216.2",
"transcript_support_level": 1,
"aa_start": 518,
"aa_end": null,
"aa_length": 575,
"cds_start": 1554,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 1700,
"cdna_end": null,
"cdna_length": 2185,
"mane_select": "NM_001099271.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000428202.7"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC5",
"gene_hgnc_id": 26658,
"hgvs_c": "c.1479T>G",
"hgvs_p": "p.Val493Val",
"transcript": "ENST00000446329.6",
"protein_id": "ENSP00000399481.2",
"transcript_support_level": 1,
"aa_start": 493,
"aa_end": null,
"aa_length": 550,
"cds_start": 1479,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 1550,
"cdna_end": null,
"cdna_length": 1728,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446329.6"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC5",
"gene_hgnc_id": 26658,
"hgvs_c": "c.1674T>G",
"hgvs_p": "p.Val558Val",
"transcript": "ENST00000930836.1",
"protein_id": "ENSP00000600895.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 615,
"cds_start": 1674,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 1807,
"cdna_end": null,
"cdna_length": 2211,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930836.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC5",
"gene_hgnc_id": 26658,
"hgvs_c": "c.1554T>G",
"hgvs_p": "p.Val518Val",
"transcript": "ENST00000930834.1",
"protein_id": "ENSP00000600893.1",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 575,
"cds_start": 1554,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 1763,
"cdna_end": null,
"cdna_length": 2174,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930834.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC5",
"gene_hgnc_id": 26658,
"hgvs_c": "c.1479T>G",
"hgvs_p": "p.Val493Val",
"transcript": "NM_152408.3",
"protein_id": "NP_689621.2",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 550,
"cds_start": 1479,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 1527,
"cdna_end": null,
"cdna_length": 2012,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152408.3"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC5",
"gene_hgnc_id": 26658,
"hgvs_c": "c.1470T>G",
"hgvs_p": "p.Val490Val",
"transcript": "ENST00000514838.6",
"protein_id": "ENSP00000420971.1",
"transcript_support_level": 5,
"aa_start": 490,
"aa_end": null,
"aa_length": 547,
"cds_start": 1470,
"cds_end": null,
"cds_length": 1644,
"cdna_start": 1577,
"cdna_end": null,
"cdna_length": 1984,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000514838.6"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC5",
"gene_hgnc_id": 26658,
"hgvs_c": "c.1470T>G",
"hgvs_p": "p.Val490Val",
"transcript": "ENST00000904656.1",
"protein_id": "ENSP00000574715.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 547,
"cds_start": 1470,
"cds_end": null,
"cds_length": 1644,
"cdna_start": 1627,
"cdna_end": null,
"cdna_length": 2038,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904656.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC5",
"gene_hgnc_id": 26658,
"hgvs_c": "c.1449T>G",
"hgvs_p": "p.Val483Val",
"transcript": "ENST00000904657.1",
"protein_id": "ENSP00000574716.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 540,
"cds_start": 1449,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 1574,
"cdna_end": null,
"cdna_length": 1975,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904657.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC5",
"gene_hgnc_id": 26658,
"hgvs_c": "c.732T>G",
"hgvs_p": "p.Val244Val",
"transcript": "ENST00000930835.1",
"protein_id": "ENSP00000600894.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 301,
"cds_start": 732,
"cds_end": null,
"cds_length": 906,
"cdna_start": 871,
"cdna_end": null,
"cdna_length": 1271,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930835.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC5",
"gene_hgnc_id": 26658,
"hgvs_c": "c.1470T>G",
"hgvs_p": "p.Val490Val",
"transcript": "XM_005248436.2",
"protein_id": "XP_005248493.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 547,
"cds_start": 1470,
"cds_end": null,
"cds_length": 1644,
"cdna_start": 1616,
"cdna_end": null,
"cdna_length": 2101,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005248436.2"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC5",
"gene_hgnc_id": 26658,
"hgvs_c": "c.1203T>G",
"hgvs_p": "p.Val401Val",
"transcript": "XM_011543160.2",
"protein_id": "XP_011541462.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 458,
"cds_start": 1203,
"cds_end": null,
"cds_length": 1377,
"cdna_start": 1602,
"cdna_end": null,
"cdna_length": 2087,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543160.2"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC5",
"gene_hgnc_id": 26658,
"hgvs_c": "c.1203T>G",
"hgvs_p": "p.Val401Val",
"transcript": "XM_047416726.1",
"protein_id": "XP_047272682.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 458,
"cds_start": 1203,
"cds_end": null,
"cds_length": 1377,
"cdna_start": 1524,
"cdna_end": null,
"cdna_length": 2009,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416726.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC5",
"gene_hgnc_id": 26658,
"hgvs_c": "c.1203T>G",
"hgvs_p": "p.Val401Val",
"transcript": "XM_047416727.1",
"protein_id": "XP_047272683.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 458,
"cds_start": 1203,
"cds_end": null,
"cds_length": 1377,
"cdna_start": 1523,
"cdna_end": null,
"cdna_length": 2008,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416727.1"
},
{
"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": 9,
"intron_rank_end": null,
"gene_symbol": "POC5",
"gene_hgnc_id": 26658,
"hgvs_c": "c.1057-3226T>G",
"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": null,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1524,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000510798.5"
},
{
"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": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "POC5",
"gene_hgnc_id": 26658,
"hgvs_c": "c.1408-3226T>G",
"hgvs_p": null,
"transcript": "XM_011543158.3",
"protein_id": "XP_011541460.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 516,
"cds_start": null,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2008,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543158.3"
},
{
"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": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "POC5",
"gene_hgnc_id": 26658,
"hgvs_c": "c.1324-3226T>G",
"hgvs_p": null,
"transcript": "XM_047416725.1",
"protein_id": "XP_047272681.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 488,
"cds_start": null,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1924,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416725.1"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC5",
"gene_hgnc_id": 26658,
"hgvs_c": "n.309T>G",
"hgvs_p": null,
"transcript": "ENST00000503521.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 592,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000503521.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ANKDD1B",
"gene_hgnc_id": 32525,
"hgvs_c": "n.737-904A>C",
"hgvs_p": null,
"transcript": "ENST00000672802.1",
"protein_id": "ENSP00000500285.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 934,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000672802.1"
}
],
"gene_symbol": "POC5",
"gene_hgnc_id": 26658,
"dbsnp": null,
"frequency_reference_population": 6.854385e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.85439e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6700000166893005,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.67,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.122,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 7,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001099271.2",
"gene_symbol": "POC5",
"hgnc_id": 26658,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1554T>G",
"hgvs_p": "p.Val518Val"
},
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000672802.1",
"gene_symbol": "ANKDD1B",
"hgnc_id": 32525,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "n.737-904A>C",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}