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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: 15-77998254-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=77998254&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 8,
"criteria": [
"BP4_Moderate",
"BP6_Moderate",
"BS1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TBC1D2B",
"hgnc_id": 29183,
"hgvs_c": "c.2798C>T",
"hgvs_p": "p.Thr933Ile",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -8,
"transcript": "NM_001387142.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Moderate,BS1",
"acmg_score": -8,
"allele_count_reference_population": 263,
"alphamissense_prediction": "Uncertain_significance",
"alphamissense_score": 0.3806,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.47,
"chr": "15",
"clinvar_classification": "Likely benign",
"clinvar_disease": "Inborn genetic diseases",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.16647860407829285,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 963,
"aa_ref": "T",
"aa_start": 933,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6126,
"cdna_start": 2857,
"cds_end": null,
"cds_length": 2892,
"cds_start": 2798,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_144572.2",
"gene_hgnc_id": 29183,
"gene_symbol": "TBC1D2B",
"hgvs_c": "c.2798C>T",
"hgvs_p": "p.Thr933Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000300584.8",
"protein_coding": true,
"protein_id": "NP_653173.1",
"strand": false,
"transcript": "NM_144572.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 963,
"aa_ref": "T",
"aa_start": 933,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6126,
"cdna_start": 2857,
"cds_end": null,
"cds_length": 2892,
"cds_start": 2798,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000300584.8",
"gene_hgnc_id": 29183,
"gene_symbol": "TBC1D2B",
"hgvs_c": "c.2798C>T",
"hgvs_p": "p.Thr933Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_144572.2",
"protein_coding": true,
"protein_id": "ENSP00000300584.3",
"strand": false,
"transcript": "ENST00000300584.8",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 914,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6086,
"cdna_start": null,
"cds_end": null,
"cds_length": 2745,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000409931.7",
"gene_hgnc_id": 29183,
"gene_symbol": "TBC1D2B",
"hgvs_c": "c.*1C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000387165.3",
"strand": false,
"transcript": "ENST00000409931.7",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 974,
"aa_ref": "T",
"aa_start": 933,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2995,
"cdna_start": 2857,
"cds_end": null,
"cds_length": 2925,
"cds_start": 2798,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001387142.1",
"gene_hgnc_id": 29183,
"gene_symbol": "TBC1D2B",
"hgvs_c": "c.2798C>T",
"hgvs_p": "p.Thr933Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001374071.1",
"strand": false,
"transcript": "NM_001387142.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 964,
"aa_ref": "T",
"aa_start": 934,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6140,
"cdna_start": 2871,
"cds_end": null,
"cds_length": 2895,
"cds_start": 2801,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000936499.1",
"gene_hgnc_id": 29183,
"gene_symbol": "TBC1D2B",
"hgvs_c": "c.2801C>T",
"hgvs_p": "p.Thr934Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606558.1",
"strand": false,
"transcript": "ENST00000936499.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 962,
"aa_ref": "T",
"aa_start": 932,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6123,
"cdna_start": 2854,
"cds_end": null,
"cds_length": 2889,
"cds_start": 2795,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001387143.1",
"gene_hgnc_id": 29183,
"gene_symbol": "TBC1D2B",
"hgvs_c": "c.2795C>T",
"hgvs_p": "p.Thr932Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001374072.1",
"strand": false,
"transcript": "NM_001387143.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 959,
"aa_ref": "T",
"aa_start": 933,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3003,
"cdna_start": 2857,
"cds_end": null,
"cds_length": 2880,
"cds_start": 2798,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001387144.1",
"gene_hgnc_id": 29183,
"gene_symbol": "TBC1D2B",
"hgvs_c": "c.2798C>T",
"hgvs_p": "p.Thr933Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001374073.1",
"strand": false,
"transcript": "NM_001387144.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 952,
"aa_ref": "T",
"aa_start": 922,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3649,
"cdna_start": 2819,
"cds_end": null,
"cds_length": 2859,
"cds_start": 2765,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000971562.1",
"gene_hgnc_id": 29183,
"gene_symbol": "TBC1D2B",
"hgvs_c": "c.2765C>T",
"hgvs_p": "p.Thr922Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641621.1",
"strand": false,
"transcript": "ENST00000971562.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 926,
"aa_ref": "T",
"aa_start": 896,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6010,
"cdna_start": 2741,
"cds_end": null,
"cds_length": 2781,
"cds_start": 2687,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000936500.1",
"gene_hgnc_id": 29183,
"gene_symbol": "TBC1D2B",
"hgvs_c": "c.2687C>T",
"hgvs_p": "p.Thr896Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606559.1",
"strand": false,
"transcript": "ENST00000936500.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 898,
"aa_ref": "T",
"aa_start": 868,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5941,
"cdna_start": 2674,
"cds_end": null,
"cds_length": 2697,
"cds_start": 2603,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000971560.1",
"gene_hgnc_id": 29183,
"gene_symbol": "TBC1D2B",
"hgvs_c": "c.2603C>T",
"hgvs_p": "p.Thr868Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641619.1",
"strand": false,
"transcript": "ENST00000971560.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
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"aa_length": 862,
"aa_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2732,
"cdna_start": 2594,
"cds_end": null,
"cds_length": 2589,
"cds_start": 2462,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001387145.1",
"gene_hgnc_id": 29183,
"gene_symbol": "TBC1D2B",
"hgvs_c": "c.2462C>T",
"hgvs_p": "p.Thr821Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001374074.1",
"strand": false,
"transcript": "NM_001387145.1",
"transcript_support_level": null
},
{
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"aa_length": 861,
"aa_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
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"cdna_length": 2729,
"cdna_start": 2594,
"cds_end": null,
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"consequences": [
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],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001387146.1",
"gene_hgnc_id": 29183,
"gene_symbol": "TBC1D2B",
"hgvs_c": "c.2462C>T",
"hgvs_p": "p.Thr821Ile",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001374075.1",
"strand": false,
"transcript": "NM_001387146.1",
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},
{
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"aa_ref": "T",
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"biotype": "protein_coding",
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"cdna_start": 2594,
"cds_end": null,
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"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001387147.1",
"gene_hgnc_id": 29183,
"gene_symbol": "TBC1D2B",
"hgvs_c": "c.2462C>T",
"hgvs_p": "p.Thr821Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001374076.1",
"strand": false,
"transcript": "NM_001387147.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
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"aa_length": 847,
"aa_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2740,
"cdna_start": 2594,
"cds_end": null,
"cds_length": 2544,
"cds_start": 2462,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001387148.1",
"gene_hgnc_id": 29183,
"gene_symbol": "TBC1D2B",
"hgvs_c": "c.2462C>T",
"hgvs_p": "p.Thr821Ile",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001374077.1",
"strand": false,
"transcript": "NM_001387148.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
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"aa_length": 813,
"aa_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5749,
"cdna_start": 2480,
"cds_end": null,
"cds_length": 2442,
"cds_start": 2348,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001387149.1",
"gene_hgnc_id": 29183,
"gene_symbol": "TBC1D2B",
"hgvs_c": "c.2348C>T",
"hgvs_p": "p.Thr783Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001374078.1",
"strand": false,
"transcript": "NM_001387149.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 798,
"aa_ref": "T",
"aa_start": 768,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5634,
"cdna_start": 2365,
"cds_end": null,
"cds_length": 2397,
"cds_start": 2303,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000971561.1",
"gene_hgnc_id": 29183,
"gene_symbol": "TBC1D2B",
"hgvs_c": "c.2303C>T",
"hgvs_p": "p.Thr768Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641620.1",
"strand": false,
"transcript": "ENST00000971561.1",
"transcript_support_level": null
},
{
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"aa_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
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"cds_end": null,
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"consequences": [
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],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_011521387.3",
"gene_hgnc_id": 29183,
"gene_symbol": "TBC1D2B",
"hgvs_c": "c.2687C>T",
"hgvs_p": "p.Thr896Ile",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011519689.1",
"strand": false,
"transcript": "XM_011521387.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
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"aa_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": 2703,
"cds_end": null,
"cds_length": 2202,
"cds_start": 2108,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_047432269.1",
"gene_hgnc_id": 29183,
"gene_symbol": "TBC1D2B",
"hgvs_c": "c.2108C>T",
"hgvs_p": "p.Thr703Ile",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047288225.1",
"strand": false,
"transcript": "XM_047432269.1",
"transcript_support_level": null
},
{
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"aa_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": 2263,
"cds_end": null,
"cds_length": 2202,
"cds_start": 2108,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_047432270.1",
"gene_hgnc_id": 29183,
"gene_symbol": "TBC1D2B",
"hgvs_c": "c.2108C>T",
"hgvs_p": "p.Thr703Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047288226.1",
"strand": false,
"transcript": "XM_047432270.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 733,
"aa_ref": "T",
"aa_start": 703,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5506,
"cdna_start": 2237,
"cds_end": null,
"cds_length": 2202,
"cds_start": 2108,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_047432271.1",
"gene_hgnc_id": 29183,
"gene_symbol": "TBC1D2B",
"hgvs_c": "c.2108C>T",
"hgvs_p": "p.Thr703Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047288227.1",
"strand": false,
"transcript": "XM_047432271.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 914,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6074,
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}