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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: 18-68837035-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=68837035&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CCDC102B",
"hgnc_id": 26295,
"hgvs_c": "c.272C>T",
"hgvs_p": "p.Thr91Ile",
"inheritance_mode": "AR",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_024781.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_score": 3,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.9853,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.05,
"chr": "18",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8025786876678467,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 513,
"aa_ref": "T",
"aa_start": 91,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2711,
"cdna_start": 389,
"cds_end": null,
"cds_length": 1542,
"cds_start": 272,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_024781.3",
"gene_hgnc_id": 26295,
"gene_symbol": "CCDC102B",
"hgvs_c": "c.272C>T",
"hgvs_p": "p.Thr91Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000360242.9",
"protein_coding": true,
"protein_id": "NP_079057.3",
"strand": true,
"transcript": "NM_024781.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 513,
"aa_ref": "T",
"aa_start": 91,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2711,
"cdna_start": 389,
"cds_end": null,
"cds_length": 1542,
"cds_start": 272,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000360242.9",
"gene_hgnc_id": 26295,
"gene_symbol": "CCDC102B",
"hgvs_c": "c.272C>T",
"hgvs_p": "p.Thr91Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_024781.3",
"protein_coding": true,
"protein_id": "ENSP00000353377.5",
"strand": true,
"transcript": "ENST00000360242.9",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 483,
"aa_ref": "T",
"aa_start": 91,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1554,
"cdna_start": 272,
"cds_end": null,
"cds_length": 1452,
"cds_start": 272,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000584156.5",
"gene_hgnc_id": 26295,
"gene_symbol": "CCDC102B",
"hgvs_c": "c.272C>T",
"hgvs_p": "p.Thr91Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000463111.1",
"strand": true,
"transcript": "ENST00000584156.5",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 324,
"aa_ref": "T",
"aa_start": 91,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1179,
"cdna_start": 474,
"cds_end": null,
"cds_length": 977,
"cds_start": 272,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000584775.5",
"gene_hgnc_id": 26295,
"gene_symbol": "CCDC102B",
"hgvs_c": "c.272C>T",
"hgvs_p": "p.Thr91Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000463538.1",
"strand": true,
"transcript": "ENST00000584775.5",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 513,
"aa_ref": "T",
"aa_start": 91,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2855,
"cdna_start": 533,
"cds_end": null,
"cds_length": 1542,
"cds_start": 272,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001093729.2",
"gene_hgnc_id": 26295,
"gene_symbol": "CCDC102B",
"hgvs_c": "c.272C>T",
"hgvs_p": "p.Thr91Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001087198.2",
"strand": true,
"transcript": "NM_001093729.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 513,
"aa_ref": "T",
"aa_start": 91,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4698,
"cdna_start": 439,
"cds_end": null,
"cds_length": 1542,
"cds_start": 272,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000903417.1",
"gene_hgnc_id": 26295,
"gene_symbol": "CCDC102B",
"hgvs_c": "c.272C>T",
"hgvs_p": "p.Thr91Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573476.1",
"strand": true,
"transcript": "ENST00000903417.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 513,
"aa_ref": "T",
"aa_start": 91,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3477,
"cdna_start": 861,
"cds_end": null,
"cds_length": 1542,
"cds_start": 272,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000903418.1",
"gene_hgnc_id": 26295,
"gene_symbol": "CCDC102B",
"hgvs_c": "c.272C>T",
"hgvs_p": "p.Thr91Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573477.1",
"strand": true,
"transcript": "ENST00000903418.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 513,
"aa_ref": "T",
"aa_start": 91,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3122,
"cdna_start": 806,
"cds_end": null,
"cds_length": 1542,
"cds_start": 272,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000903420.1",
"gene_hgnc_id": 26295,
"gene_symbol": "CCDC102B",
"hgvs_c": "c.272C>T",
"hgvs_p": "p.Thr91Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573479.1",
"strand": true,
"transcript": "ENST00000903420.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 513,
"aa_ref": "T",
"aa_start": 91,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2882,
"cdna_start": 609,
"cds_end": null,
"cds_length": 1542,
"cds_start": 272,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000903421.1",
"gene_hgnc_id": 26295,
"gene_symbol": "CCDC102B",
"hgvs_c": "c.272C>T",
"hgvs_p": "p.Thr91Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573480.1",
"strand": true,
"transcript": "ENST00000903421.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 513,
"aa_ref": "T",
"aa_start": 91,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3030,
"cdna_start": 695,
"cds_end": null,
"cds_length": 1542,
"cds_start": 272,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000903423.1",
"gene_hgnc_id": 26295,
"gene_symbol": "CCDC102B",
"hgvs_c": "c.272C>T",
"hgvs_p": "p.Thr91Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573482.1",
"strand": true,
"transcript": "ENST00000903423.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 513,
"aa_ref": "T",
"aa_start": 91,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2739,
"cdna_start": 466,
"cds_end": null,
"cds_length": 1542,
"cds_start": 272,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000903424.1",
"gene_hgnc_id": 26295,
"gene_symbol": "CCDC102B",
"hgvs_c": "c.272C>T",
"hgvs_p": "p.Thr91Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573483.1",
"strand": true,
"transcript": "ENST00000903424.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 513,
"aa_ref": "T",
"aa_start": 91,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2763,
"cdna_start": 490,
"cds_end": null,
"cds_length": 1542,
"cds_start": 272,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000903425.1",
"gene_hgnc_id": 26295,
"gene_symbol": "CCDC102B",
"hgvs_c": "c.272C>T",
"hgvs_p": "p.Thr91Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573484.1",
"strand": true,
"transcript": "ENST00000903425.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 513,
"aa_ref": "T",
"aa_start": 91,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2780,
"cdna_start": 449,
"cds_end": null,
"cds_length": 1542,
"cds_start": 272,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000903427.1",
"gene_hgnc_id": 26295,
"gene_symbol": "CCDC102B",
"hgvs_c": "c.272C>T",
"hgvs_p": "p.Thr91Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573486.1",
"strand": true,
"transcript": "ENST00000903427.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 513,
"aa_ref": "T",
"aa_start": 91,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2908,
"cdna_start": 573,
"cds_end": null,
"cds_length": 1542,
"cds_start": 272,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000948277.1",
"gene_hgnc_id": 26295,
"gene_symbol": "CCDC102B",
"hgvs_c": "c.272C>T",
"hgvs_p": "p.Thr91Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618336.1",
"strand": true,
"transcript": "ENST00000948277.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 513,
"aa_ref": "T",
"aa_start": 91,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2742,
"cdna_start": 422,
"cds_end": null,
"cds_length": 1542,
"cds_start": 272,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000948278.1",
"gene_hgnc_id": 26295,
"gene_symbol": "CCDC102B",
"hgvs_c": "c.272C>T",
"hgvs_p": "p.Thr91Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618337.1",
"strand": true,
"transcript": "ENST00000948278.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 456,
"aa_ref": "T",
"aa_start": 91,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2985,
"cdna_start": 834,
"cds_end": null,
"cds_length": 1371,
"cds_start": 272,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000903419.1",
"gene_hgnc_id": 26295,
"gene_symbol": "CCDC102B",
"hgvs_c": "c.272C>T",
"hgvs_p": "p.Thr91Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573478.1",
"strand": true,
"transcript": "ENST00000903419.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 456,
"aa_ref": "T",
"aa_start": 91,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2610,
"cdna_start": 462,
"cds_end": null,
"cds_length": 1371,
"cds_start": 272,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000903422.1",
"gene_hgnc_id": 26295,
"gene_symbol": "CCDC102B",
"hgvs_c": "c.272C>T",
"hgvs_p": "p.Thr91Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573481.1",
"strand": true,
"transcript": "ENST00000903422.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 456,
"aa_ref": "T",
"aa_start": 91,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2599,
"cdna_start": 435,
"cds_end": null,
"cds_length": 1371,
"cds_start": 272,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000903426.1",
"gene_hgnc_id": 26295,
"gene_symbol": "CCDC102B",
"hgvs_c": "c.272C>T",
"hgvs_p": "p.Thr91Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573485.1",
"strand": true,
"transcript": "ENST00000903426.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 456,
"aa_ref": "T",
"aa_start": 91,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2538,
"cdna_start": 392,
"cds_end": null,
"cds_length": 1371,
"cds_start": 272,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000903429.1",
"gene_hgnc_id": 26295,
"gene_symbol": "CCDC102B",
"hgvs_c": "c.272C>T",
"hgvs_p": "p.Thr91Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573488.1",
"strand": true,
"transcript": "ENST00000903429.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 456,
"aa_ref": "T",
"aa_start": 91,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2589,
"cdna_start": 487,
"cds_end": null,
"cds_length": 1371,
"cds_start": 272,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000903430.1",
"gene_hgnc_id": 26295,
"gene_symbol": "CCDC102B",
"hgvs_c": "c.272C>T",
"hgvs_p": "p.Thr91Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573489.1",
"strand": true,
"transcript": "ENST00000903430.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 443,
"aa_ref": "T",
"aa_start": 91,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2450,
"cdna_start": 341,
"cds_end": null,
"cds_length": 1332,
"cds_start": 272,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000903428.1",
"gene_hgnc_id": 26295,
"gene_symbol": "CCDC102B",
"hgvs_c": "c.272C>T",
"hgvs_p": "p.Thr91Ile",
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