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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: 13-75287038-G-GAA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=75287038&ref=G&alt=GAA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "TBC1D4",
"hgnc_id": 19165,
"hgvs_c": "c.3664-15_3664-14dupTT",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_014832.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GAA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "13",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1298,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7588,
"cdna_start": null,
"cds_end": null,
"cds_length": 3897,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_014832.5",
"gene_hgnc_id": 19165,
"gene_symbol": "TBC1D4",
"hgvs_c": "c.3664-15_3664-14dupTT",
"hgvs_p": null,
"intron_rank": 20,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000377636.8",
"protein_coding": true,
"protein_id": "NP_055647.2",
"strand": false,
"transcript": "NM_014832.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1298,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7588,
"cdna_start": null,
"cds_end": null,
"cds_length": 3897,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000377636.8",
"gene_hgnc_id": 19165,
"gene_symbol": "TBC1D4",
"hgvs_c": "c.3664-14_3664-13insTT",
"hgvs_p": null,
"intron_rank": 20,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014832.5",
"protein_coding": true,
"protein_id": "ENSP00000366863.3",
"strand": false,
"transcript": "ENST00000377636.8",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1290,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6347,
"cdna_start": null,
"cds_end": null,
"cds_length": 3873,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000431480.6",
"gene_hgnc_id": 19165,
"gene_symbol": "TBC1D4",
"hgvs_c": "c.3640-14_3640-13insTT",
"hgvs_p": null,
"intron_rank": 19,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000395986.2",
"strand": false,
"transcript": "ENST00000431480.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1235,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6182,
"cdna_start": null,
"cds_end": null,
"cds_length": 3708,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000377625.6",
"gene_hgnc_id": 19165,
"gene_symbol": "TBC1D4",
"hgvs_c": "c.3475-14_3475-13insTT",
"hgvs_p": null,
"intron_rank": 18,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000366852.2",
"strand": false,
"transcript": "ENST00000377625.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1290,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6402,
"cdna_start": null,
"cds_end": null,
"cds_length": 3873,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001286658.2",
"gene_hgnc_id": 19165,
"gene_symbol": "TBC1D4",
"hgvs_c": "c.3640-15_3640-14dupTT",
"hgvs_p": null,
"intron_rank": 19,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001273587.1",
"strand": false,
"transcript": "NM_001286658.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1273,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6681,
"cdna_start": null,
"cds_end": null,
"cds_length": 3822,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000954256.1",
"gene_hgnc_id": 19165,
"gene_symbol": "TBC1D4",
"hgvs_c": "c.3589-14_3589-13insTT",
"hgvs_p": null,
"intron_rank": 19,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624315.1",
"strand": false,
"transcript": "ENST00000954256.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1243,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6406,
"cdna_start": null,
"cds_end": null,
"cds_length": 3732,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000954257.1",
"gene_hgnc_id": 19165,
"gene_symbol": "TBC1D4",
"hgvs_c": "c.3499-14_3499-13insTT",
"hgvs_p": null,
"intron_rank": 19,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624316.1",
"strand": false,
"transcript": "ENST00000954257.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1236,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6222,
"cdna_start": null,
"cds_end": null,
"cds_length": 3711,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000954258.1",
"gene_hgnc_id": 19165,
"gene_symbol": "TBC1D4",
"hgvs_c": "c.3478-14_3478-13insTT",
"hgvs_p": null,
"intron_rank": 18,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624317.1",
"strand": false,
"transcript": "ENST00000954258.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1235,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6237,
"cdna_start": null,
"cds_end": null,
"cds_length": 3708,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001286659.2",
"gene_hgnc_id": 19165,
"gene_symbol": "TBC1D4",
"hgvs_c": "c.3475-15_3475-14dupTT",
"hgvs_p": null,
"intron_rank": 18,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001273588.1",
"strand": false,
"transcript": "NM_001286659.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1210,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6636,
"cdna_start": null,
"cds_end": null,
"cds_length": 3633,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000954254.1",
"gene_hgnc_id": 19165,
"gene_symbol": "TBC1D4",
"hgvs_c": "c.3400-14_3400-13insTT",
"hgvs_p": null,
"intron_rank": 17,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624313.1",
"strand": false,
"transcript": "ENST00000954254.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 1198,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6436,
"cdna_start": null,
"cds_end": null,
"cds_length": 3597,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000881333.1",
"gene_hgnc_id": 19165,
"gene_symbol": "TBC1D4",
"hgvs_c": "c.3364-14_3364-13insTT",
"hgvs_p": null,
"intron_rank": 17,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551392.1",
"strand": false,
"transcript": "ENST00000881333.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 1056,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6172,
"cdna_start": null,
"cds_end": null,
"cds_length": 3171,
"cds_start": null,
"consequences": [
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],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000954255.1",
"gene_hgnc_id": 19165,
"gene_symbol": "TBC1D4",
"hgvs_c": "c.2938-14_2938-13insTT",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624314.1",
"strand": false,
"transcript": "ENST00000954255.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": null,
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"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000648194.1",
"gene_hgnc_id": 19165,
"gene_symbol": "TBC1D4",
"hgvs_c": "c.2932-14_2932-13insTT",
"hgvs_p": null,
"intron_rank": 19,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496983.1",
"strand": false,
"transcript": "ENST00000648194.1",
"transcript_support_level": null
},
{
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"aa_end": null,
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7513,
"cdna_start": null,
"cds_end": null,
"cds_length": 3822,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005266603.3",
"gene_hgnc_id": 19165,
"gene_symbol": "TBC1D4",
"hgvs_c": "c.3589-15_3589-14dupTT",
"hgvs_p": null,
"intron_rank": 19,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005266660.1",
"strand": false,
"transcript": "XM_005266603.3",
"transcript_support_level": null
},
{
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"aa_length": 1265,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7489,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 19,
"exon_rank": null,
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"feature": "XM_047430808.1",
"gene_hgnc_id": 19165,
"gene_symbol": "TBC1D4",
"hgvs_c": "c.3565-15_3565-14dupTT",
"hgvs_p": null,
"intron_rank": 18,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047286764.1",
"strand": false,
"transcript": "XM_047430808.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 1261,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7477,
"cdna_start": null,
"cds_end": null,
"cds_length": 3786,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011535331.3",
"gene_hgnc_id": 19165,
"gene_symbol": "TBC1D4",
"hgvs_c": "c.3553-15_3553-14dupTT",
"hgvs_p": null,
"intron_rank": 19,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011533633.1",
"strand": false,
"transcript": "XM_011535331.3",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 1210,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7324,
"cdna_start": null,
"cds_end": null,
"cds_length": 3633,
"cds_start": null,
"consequences": [
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],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047430809.1",
"gene_hgnc_id": 19165,
"gene_symbol": "TBC1D4",
"hgvs_c": "c.3400-15_3400-14dupTT",
"hgvs_p": null,
"intron_rank": 17,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047286765.1",
"strand": false,
"transcript": "XM_047430809.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 18,
"exon_rank": null,
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"feature": "XM_047430810.1",
"gene_hgnc_id": 19165,
"gene_symbol": "TBC1D4",
"hgvs_c": "c.3364-15_3364-14dupTT",
"hgvs_p": null,
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"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047286766.1",
"strand": false,
"transcript": "XM_047430810.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
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"feature": "XM_047430811.1",
"gene_hgnc_id": 19165,
"gene_symbol": "TBC1D4",
"hgvs_c": "c.3289-15_3289-14dupTT",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047286767.1",
"strand": false,
"transcript": "XM_047430811.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14429,
"cdna_start": null,
"cds_end": null,
"cds_length": 3423,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_006719903.4",
"gene_hgnc_id": 19165,
"gene_symbol": "TBC1D4",
"hgvs_c": "c.3190-15_3190-14dupTT",
"hgvs_p": null,
"intron_rank": 20,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006719966.1",
"strand": false,
"transcript": "XM_006719903.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 515,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5316,
"cdna_start": null,
"cds_end": null,
"cds_length": 1548,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047430812.1",
"gene_hgnc_id": 19165,
"gene_symbol": "TBC1D4",
"hgvs_c": "c.1315-15_1315-14dupTT",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
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