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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: 5-69509160-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=69509160&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 69509160,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000396442.7",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCLN",
"gene_hgnc_id": 8104,
"hgvs_c": "c.70C>G",
"hgvs_p": "p.Pro24Ala",
"transcript": "NM_001205254.2",
"protein_id": "NP_001192183.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 522,
"cds_start": 70,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 249,
"cdna_end": null,
"cdna_length": 6181,
"mane_select": "ENST00000396442.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCLN",
"gene_hgnc_id": 8104,
"hgvs_c": "c.70C>G",
"hgvs_p": "p.Pro24Ala",
"transcript": "ENST00000396442.7",
"protein_id": "ENSP00000379719.2",
"transcript_support_level": 1,
"aa_start": 24,
"aa_end": null,
"aa_length": 522,
"cds_start": 70,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 249,
"cdna_end": null,
"cdna_length": 6181,
"mane_select": "NM_001205254.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCLN",
"gene_hgnc_id": 8104,
"hgvs_c": "c.70C>G",
"hgvs_p": "p.Pro24Ala",
"transcript": "ENST00000355237.6",
"protein_id": "ENSP00000347379.2",
"transcript_support_level": 1,
"aa_start": 24,
"aa_end": null,
"aa_length": 522,
"cds_start": 70,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 506,
"cdna_end": null,
"cdna_length": 6438,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "OCLN",
"gene_hgnc_id": 8104,
"hgvs_c": "c.-24-4788C>G",
"hgvs_p": null,
"transcript": "ENST00000538151.2",
"protein_id": "ENSP00000445940.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 271,
"cds_start": -4,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5391,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCLN",
"gene_hgnc_id": 8104,
"hgvs_c": "c.70C>G",
"hgvs_p": "p.Pro24Ala",
"transcript": "NM_001438604.1",
"protein_id": "NP_001425533.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 522,
"cds_start": 70,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 302,
"cdna_end": null,
"cdna_length": 6234,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCLN",
"gene_hgnc_id": 8104,
"hgvs_c": "c.70C>G",
"hgvs_p": "p.Pro24Ala",
"transcript": "NM_002538.4",
"protein_id": "NP_002529.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 522,
"cds_start": 70,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 251,
"cdna_end": null,
"cdna_length": 6183,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCLN",
"gene_hgnc_id": 8104,
"hgvs_c": "c.70C>G",
"hgvs_p": "p.Pro24Ala",
"transcript": "ENST00000680027.1",
"protein_id": "ENSP00000506162.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 522,
"cds_start": 70,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 501,
"cdna_end": null,
"cdna_length": 3604,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCLN",
"gene_hgnc_id": 8104,
"hgvs_c": "c.70C>G",
"hgvs_p": "p.Pro24Ala",
"transcript": "ENST00000681041.1",
"protein_id": "ENSP00000505426.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 522,
"cds_start": 70,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 206,
"cdna_end": null,
"cdna_length": 3309,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCLN",
"gene_hgnc_id": 8104,
"hgvs_c": "c.70C>G",
"hgvs_p": "p.Pro24Ala",
"transcript": "ENST00000681586.1",
"protein_id": "ENSP00000505541.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 522,
"cds_start": 70,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 592,
"cdna_end": null,
"cdna_length": 3695,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCLN",
"gene_hgnc_id": 8104,
"hgvs_c": "c.70C>G",
"hgvs_p": "p.Pro24Ala",
"transcript": "NM_001410743.1",
"protein_id": "NP_001397672.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 468,
"cds_start": 70,
"cds_end": null,
"cds_length": 1407,
"cdna_start": 251,
"cdna_end": null,
"cdna_length": 6021,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCLN",
"gene_hgnc_id": 8104,
"hgvs_c": "c.70C>G",
"hgvs_p": "p.Pro24Ala",
"transcript": "NM_001438048.1",
"protein_id": "NP_001424977.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 468,
"cds_start": 70,
"cds_end": null,
"cds_length": 1407,
"cdna_start": 249,
"cdna_end": null,
"cdna_length": 6019,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCLN",
"gene_hgnc_id": 8104,
"hgvs_c": "c.70C>G",
"hgvs_p": "p.Pro24Ala",
"transcript": "ENST00000680496.1",
"protein_id": "ENSP00000504966.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 468,
"cds_start": 70,
"cds_end": null,
"cds_length": 1407,
"cdna_start": 480,
"cdna_end": null,
"cdna_length": 3399,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCLN",
"gene_hgnc_id": 8104,
"hgvs_c": "c.70C>G",
"hgvs_p": "p.Pro24Ala",
"transcript": "ENST00000680784.1",
"protein_id": "ENSP00000506305.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 468,
"cds_start": 70,
"cds_end": null,
"cds_length": 1407,
"cdna_start": 249,
"cdna_end": null,
"cdna_length": 3168,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCLN",
"gene_hgnc_id": 8104,
"hgvs_c": "c.70C>G",
"hgvs_p": "p.Pro24Ala",
"transcript": "ENST00000681895.1",
"protein_id": "ENSP00000505831.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 464,
"cds_start": 70,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 238,
"cdna_end": null,
"cdna_length": 3261,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCLN",
"gene_hgnc_id": 8104,
"hgvs_c": "c.70C>G",
"hgvs_p": "p.Pro24Ala",
"transcript": "ENST00000680098.1",
"protein_id": "ENSP00000506561.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 323,
"cds_start": 70,
"cds_end": null,
"cds_length": 972,
"cdna_start": 249,
"cdna_end": null,
"cdna_length": 2903,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCLN",
"gene_hgnc_id": 8104,
"hgvs_c": "c.70C>G",
"hgvs_p": "p.Pro24Ala",
"transcript": "XM_047416594.1",
"protein_id": "XP_047272550.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 522,
"cds_start": 70,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 528,
"cdna_end": null,
"cdna_length": 6460,
"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": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCLN",
"gene_hgnc_id": 8104,
"hgvs_c": "n.70C>G",
"hgvs_p": null,
"transcript": "ENST00000681588.1",
"protein_id": "ENSP00000506017.1",
"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": 2828,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "OCLN",
"gene_hgnc_id": 8104,
"hgvs_c": "c.-24-4788C>G",
"hgvs_p": null,
"transcript": "NM_001205255.2",
"protein_id": "NP_001192184.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 271,
"cds_start": -4,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5502,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "OCLN",
"gene_hgnc_id": 8104,
"dbsnp": "rs147125035",
"frequency_reference_population": 0.010358139,
"hom_count_reference_population": 100,
"allele_count_reference_population": 16717,
"gnomad_exomes_af": 0.0105597,
"gnomad_genomes_af": 0.00842383,
"gnomad_exomes_ac": 15434,
"gnomad_genomes_ac": 1283,
"gnomad_exomes_homalt": 91,
"gnomad_genomes_homalt": 9,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.008942842483520508,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.356,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1233,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.2,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.778,
"phylop100way_prediction": "Uncertain_significance",
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000396442.7",
"gene_symbol": "OCLN",
"hgnc_id": 8104,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.70C>G",
"hgvs_p": "p.Pro24Ala"
}
],
"clinvar_disease": "Pseudo-TORCH syndrome 1,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:5",
"phenotype_combined": "not specified|not provided|Pseudo-TORCH syndrome 1",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}