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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: 10-27860664-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=27860664&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 21,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "ODAD2",
"hgnc_id": 25583,
"hgvs_c": "c.2982C>T",
"hgvs_p": "p.Ala994Ala",
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": -21,
"transcript": "NM_018076.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_score": -21,
"allele_count_reference_population": 4343,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.8,
"chr": "10",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": "Primary ciliary dyskinesia,Primary ciliary dyskinesia 23,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:3",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.800000011920929,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1044,
"aa_ref": "A",
"aa_start": 994,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3603,
"cdna_start": 3106,
"cds_end": null,
"cds_length": 3135,
"cds_start": 2982,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_018076.5",
"gene_hgnc_id": 25583,
"gene_symbol": "ODAD2",
"hgvs_c": "c.2982C>T",
"hgvs_p": "p.Ala994Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000305242.10",
"protein_coding": true,
"protein_id": "NP_060546.2",
"strand": false,
"transcript": "NM_018076.5",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1044,
"aa_ref": "A",
"aa_start": 994,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3603,
"cdna_start": 3106,
"cds_end": null,
"cds_length": 3135,
"cds_start": 2982,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000305242.10",
"gene_hgnc_id": 25583,
"gene_symbol": "ODAD2",
"hgvs_c": "c.2982C>T",
"hgvs_p": "p.Ala994Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_018076.5",
"protein_coding": true,
"protein_id": "ENSP00000306410.5",
"strand": false,
"transcript": "ENST00000305242.10",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1044,
"aa_ref": "A",
"aa_start": 994,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3612,
"cdna_start": 3115,
"cds_end": null,
"cds_length": 3135,
"cds_start": 2982,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001290020.2",
"gene_hgnc_id": 25583,
"gene_symbol": "ODAD2",
"hgvs_c": "c.2982C>T",
"hgvs_p": "p.Ala994Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001276949.1",
"strand": false,
"transcript": "NM_001290020.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1044,
"aa_ref": "A",
"aa_start": 994,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3486,
"cdna_start": 3080,
"cds_end": null,
"cds_length": 3135,
"cds_start": 2982,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000673439.1",
"gene_hgnc_id": 25583,
"gene_symbol": "ODAD2",
"hgvs_c": "c.2982C>T",
"hgvs_p": "p.Ala994Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000500782.1",
"strand": false,
"transcript": "ENST00000673439.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1044,
"aa_ref": "A",
"aa_start": 994,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3567,
"cdna_start": 3068,
"cds_end": null,
"cds_length": 3135,
"cds_start": 2982,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000852623.1",
"gene_hgnc_id": 25583,
"gene_symbol": "ODAD2",
"hgvs_c": "c.2982C>T",
"hgvs_p": "p.Ala994Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522682.1",
"strand": false,
"transcript": "ENST00000852623.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1044,
"aa_ref": "A",
"aa_start": 994,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3648,
"cdna_start": 3151,
"cds_end": null,
"cds_length": 3135,
"cds_start": 2982,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000923084.1",
"gene_hgnc_id": 25583,
"gene_symbol": "ODAD2",
"hgvs_c": "c.2982C>T",
"hgvs_p": "p.Ala994Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593143.1",
"strand": false,
"transcript": "ENST00000923084.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1005,
"aa_ref": "A",
"aa_start": 955,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3548,
"cdna_start": 3051,
"cds_end": null,
"cds_length": 3018,
"cds_start": 2865,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000852625.1",
"gene_hgnc_id": 25583,
"gene_symbol": "ODAD2",
"hgvs_c": "c.2865C>T",
"hgvs_p": "p.Ala955Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522684.1",
"strand": false,
"transcript": "ENST00000852625.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 974,
"aa_ref": "A",
"aa_start": 924,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3427,
"cdna_start": 2930,
"cds_end": null,
"cds_length": 2925,
"cds_start": 2772,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000923083.1",
"gene_hgnc_id": 25583,
"gene_symbol": "ODAD2",
"hgvs_c": "c.2772C>T",
"hgvs_p": "p.Ala924Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593142.1",
"strand": false,
"transcript": "ENST00000923083.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 974,
"aa_ref": "A",
"aa_start": 924,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3530,
"cdna_start": 3033,
"cds_end": null,
"cds_length": 2925,
"cds_start": 2772,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000923088.1",
"gene_hgnc_id": 25583,
"gene_symbol": "ODAD2",
"hgvs_c": "c.2772C>T",
"hgvs_p": "p.Ala924Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593147.1",
"strand": false,
"transcript": "ENST00000923088.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 925,
"aa_ref": "A",
"aa_start": 875,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3219,
"cdna_start": 2722,
"cds_end": null,
"cds_length": 2778,
"cds_start": 2625,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000923087.1",
"gene_hgnc_id": 25583,
"gene_symbol": "ODAD2",
"hgvs_c": "c.2625C>T",
"hgvs_p": "p.Ala875Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593146.1",
"strand": false,
"transcript": "ENST00000923087.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 823,
"aa_ref": "A",
"aa_start": 773,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2934,
"cdna_start": 2441,
"cds_end": null,
"cds_length": 2472,
"cds_start": 2319,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000923086.1",
"gene_hgnc_id": 25583,
"gene_symbol": "ODAD2",
"hgvs_c": "c.2319C>T",
"hgvs_p": "p.Ala773Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593145.1",
"strand": false,
"transcript": "ENST00000923086.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 736,
"aa_ref": "A",
"aa_start": 686,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2742,
"cdna_start": 2245,
"cds_end": null,
"cds_length": 2211,
"cds_start": 2058,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001312689.2",
"gene_hgnc_id": 25583,
"gene_symbol": "ODAD2",
"hgvs_c": "c.2058C>T",
"hgvs_p": "p.Ala686Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001299618.1",
"strand": false,
"transcript": "NM_001312689.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 736,
"aa_ref": "A",
"aa_start": 686,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2840,
"cdna_start": 2341,
"cds_end": null,
"cds_length": 2211,
"cds_start": 2058,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000672841.1",
"gene_hgnc_id": 25583,
"gene_symbol": "ODAD2",
"hgvs_c": "c.2058C>T",
"hgvs_p": "p.Ala686Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499983.1",
"strand": false,
"transcript": "ENST00000672841.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 636,
"aa_ref": "A",
"aa_start": 586,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2377,
"cdna_start": 1882,
"cds_end": null,
"cds_length": 1911,
"cds_start": 1758,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000923085.1",
"gene_hgnc_id": 25583,
"gene_symbol": "ODAD2",
"hgvs_c": "c.1758C>T",
"hgvs_p": "p.Ala586Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593144.1",
"strand": false,
"transcript": "ENST00000923085.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 612,
"aa_ref": "A",
"aa_start": 519,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2523,
"cdna_start": 1904,
"cds_end": null,
"cds_length": 1839,
"cds_start": 1557,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001290021.2",
"gene_hgnc_id": 25583,
"gene_symbol": "ODAD2",
"hgvs_c": "c.1557C>T",
"hgvs_p": "p.Ala519Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001276950.1",
"strand": false,
"transcript": "NM_001290021.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 612,
"aa_ref": "A",
"aa_start": 519,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2521,
"cdna_start": 1904,
"cds_end": null,
"cds_length": 1839,
"cds_start": 1557,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000672877.1",
"gene_hgnc_id": 25583,
"gene_symbol": "ODAD2",
"hgvs_c": "c.1557C>T",
"hgvs_p": "p.Ala519Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000500120.1",
"strand": false,
"transcript": "ENST00000672877.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1107,
"aa_ref": "A",
"aa_start": 1037,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3801,
"cdna_start": 3244,
"cds_end": null,
"cds_length": 3324,
"cds_start": 3111,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_024448049.2",
"gene_hgnc_id": 25583,
"gene_symbol": "ODAD2",
"hgvs_c": "c.3111C>T",
"hgvs_p": "p.Ala1037Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024303817.1",
"strand": false,
"transcript": "XM_024448049.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1107,
"aa_ref": "A",
"aa_start": 1037,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4218,
"cdna_start": 3661,
"cds_end": null,
"cds_length": 3324,
"cds_start": 3111,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "XM_024448050.2",
"gene_hgnc_id": 25583,
"gene_symbol": "ODAD2",
"hgvs_c": "c.3111C>T",
"hgvs_p": "p.Ala1037Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024303818.1",
"strand": false,
"transcript": "XM_024448050.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1107,
"aa_ref": "A",
"aa_start": 1037,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3792,
"cdna_start": 3235,
"cds_end": null,
"cds_length": 3324,
"cds_start": 3111,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_024448051.2",
"gene_hgnc_id": 25583,
"gene_symbol": "ODAD2",
"hgvs_c": "c.3111C>T",
"hgvs_p": "p.Ala1037Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024303819.1",
"strand": false,
"transcript": "XM_024448051.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1107,
"aa_ref": "A",
"aa_start": 1037,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3883,
"cdna_start": 3326,
"cds_end": null,
"cds_length": 3324,
"cds_start": 3111,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_024448052.2",
"gene_hgnc_id": 25583,
"gene_symbol": "ODAD2",
"hgvs_c": "c.3111C>T",
"hgvs_p": "p.Ala1037Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024303820.1",
"strand": false,
"transcript": "XM_024448052.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1087,
"aa_ref": "A",
"aa_start": 1037,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3741,
"cdna_start": 3244,
"cds_end": null,
"cds_length": 3264,
"cds_start": 3111,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
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"spliceai_max_score": 0.06,
"transcript": "NM_018076.5"
}
]
}