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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: X-101042265-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=101042265&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"BP4_Moderate",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TRMT2B",
"hgnc_id": 25748,
"hgvs_c": "c.25C>G",
"hgvs_p": "p.Pro9Ala",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -6,
"transcript": "NM_024917.6",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_score": -6,
"allele_count_reference_population": 5,
"alphamissense_prediction": null,
"alphamissense_score": 0.0834,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.75,
"chr": "X",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.11614662408828735,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 504,
"aa_ref": "P",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3547,
"cdna_start": 826,
"cds_end": null,
"cds_length": 1515,
"cds_start": 25,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_024917.6",
"gene_hgnc_id": 25748,
"gene_symbol": "TRMT2B",
"hgvs_c": "c.25C>G",
"hgvs_p": "p.Pro9Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000372936.4",
"protein_coding": true,
"protein_id": "NP_079193.2",
"strand": false,
"transcript": "NM_024917.6",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 504,
"aa_ref": "P",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3547,
"cdna_start": 826,
"cds_end": null,
"cds_length": 1515,
"cds_start": 25,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000372936.4",
"gene_hgnc_id": 25748,
"gene_symbol": "TRMT2B",
"hgvs_c": "c.25C>G",
"hgvs_p": "p.Pro9Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_024917.6",
"protein_coding": true,
"protein_id": "ENSP00000362027.3",
"strand": false,
"transcript": "ENST00000372936.4",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 504,
"aa_ref": "P",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2921,
"cdna_start": 392,
"cds_end": null,
"cds_length": 1515,
"cds_start": 25,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000372935.5",
"gene_hgnc_id": 25748,
"gene_symbol": "TRMT2B",
"hgvs_c": "c.25C>G",
"hgvs_p": "p.Pro9Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000362026.1",
"strand": false,
"transcript": "ENST00000372935.5",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 504,
"aa_ref": "P",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3106,
"cdna_start": 381,
"cds_end": null,
"cds_length": 1515,
"cds_start": 25,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000545398.5",
"gene_hgnc_id": 25748,
"gene_symbol": "TRMT2B",
"hgvs_c": "c.25C>G",
"hgvs_p": "p.Pro9Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000438134.1",
"strand": false,
"transcript": "ENST00000545398.5",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 459,
"aa_ref": "P",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3078,
"cdna_start": 492,
"cds_end": null,
"cds_length": 1380,
"cds_start": 25,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000372939.5",
"gene_hgnc_id": 25748,
"gene_symbol": "TRMT2B",
"hgvs_c": "c.25C>G",
"hgvs_p": "p.Pro9Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000362030.1",
"strand": false,
"transcript": "ENST00000372939.5",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 504,
"aa_ref": "P",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3154,
"cdna_start": 433,
"cds_end": null,
"cds_length": 1515,
"cds_start": 25,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001167970.2",
"gene_hgnc_id": 25748,
"gene_symbol": "TRMT2B",
"hgvs_c": "c.25C>G",
"hgvs_p": "p.Pro9Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001161442.1",
"strand": false,
"transcript": "NM_001167970.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 504,
"aa_ref": "P",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3097,
"cdna_start": 376,
"cds_end": null,
"cds_length": 1515,
"cds_start": 25,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001167972.2",
"gene_hgnc_id": 25748,
"gene_symbol": "TRMT2B",
"hgvs_c": "c.25C>G",
"hgvs_p": "p.Pro9Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001161444.1",
"strand": false,
"transcript": "NM_001167972.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 504,
"aa_ref": "P",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3092,
"cdna_start": 367,
"cds_end": null,
"cds_length": 1515,
"cds_start": 25,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000862825.1",
"gene_hgnc_id": 25748,
"gene_symbol": "TRMT2B",
"hgvs_c": "c.25C>G",
"hgvs_p": "p.Pro9Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532885.1",
"strand": false,
"transcript": "ENST00000862825.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 504,
"aa_ref": "P",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3045,
"cdna_start": 327,
"cds_end": null,
"cds_length": 1515,
"cds_start": 25,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000862833.1",
"gene_hgnc_id": 25748,
"gene_symbol": "TRMT2B",
"hgvs_c": "c.25C>G",
"hgvs_p": "p.Pro9Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532892.1",
"strand": false,
"transcript": "ENST00000862833.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 504,
"aa_ref": "P",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3173,
"cdna_start": 452,
"cds_end": null,
"cds_length": 1515,
"cds_start": 25,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000928862.1",
"gene_hgnc_id": 25748,
"gene_symbol": "TRMT2B",
"hgvs_c": "c.25C>G",
"hgvs_p": "p.Pro9Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598921.1",
"strand": false,
"transcript": "ENST00000928862.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_length": 504,
"aa_ref": "P",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3048,
"cdna_start": 328,
"cds_end": null,
"cds_length": 1515,
"cds_start": 25,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000943813.1",
"gene_hgnc_id": 25748,
"gene_symbol": "TRMT2B",
"hgvs_c": "c.25C>G",
"hgvs_p": "p.Pro9Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613872.1",
"strand": false,
"transcript": "ENST00000943813.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_length": 503,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3100,
"cdna_start": 385,
"cds_end": null,
"cds_length": 1512,
"cds_start": 25,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000928859.1",
"gene_hgnc_id": 25748,
"gene_symbol": "TRMT2B",
"hgvs_c": "c.25C>G",
"hgvs_p": "p.Pro9Ala",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598918.1",
"strand": false,
"transcript": "ENST00000928859.1",
"transcript_support_level": null
},
{
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"aa_length": 459,
"aa_ref": "P",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 3135,
"cdna_start": 549,
"cds_end": null,
"cds_length": 1380,
"cds_start": 25,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001167971.2",
"gene_hgnc_id": 25748,
"gene_symbol": "TRMT2B",
"hgvs_c": "c.25C>G",
"hgvs_p": "p.Pro9Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001161443.1",
"strand": false,
"transcript": "NM_001167971.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 459,
"aa_ref": "P",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3019,
"cdna_start": 434,
"cds_end": null,
"cds_length": 1380,
"cds_start": 25,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000862828.1",
"gene_hgnc_id": 25748,
"gene_symbol": "TRMT2B",
"hgvs_c": "c.25C>G",
"hgvs_p": "p.Pro9Ala",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532887.1",
"strand": false,
"transcript": "ENST00000862828.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_length": 459,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2973,
"cdna_start": 384,
"cds_end": null,
"cds_length": 1380,
"cds_start": 25,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000862834.1",
"gene_hgnc_id": 25748,
"gene_symbol": "TRMT2B",
"hgvs_c": "c.25C>G",
"hgvs_p": "p.Pro9Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532893.1",
"strand": false,
"transcript": "ENST00000862834.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_length": 459,
"aa_ref": "P",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2932,
"cdna_start": 342,
"cds_end": null,
"cds_length": 1380,
"cds_start": 25,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000928860.1",
"gene_hgnc_id": 25748,
"gene_symbol": "TRMT2B",
"hgvs_c": "c.25C>G",
"hgvs_p": "p.Pro9Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598919.1",
"strand": false,
"transcript": "ENST00000928860.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_length": 459,
"aa_ref": "P",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3080,
"cdna_start": 490,
"cds_end": null,
"cds_length": 1380,
"cds_start": 25,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000943810.1",
"gene_hgnc_id": 25748,
"gene_symbol": "TRMT2B",
"hgvs_c": "c.25C>G",
"hgvs_p": "p.Pro9Ala",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613869.1",
"strand": false,
"transcript": "ENST00000943810.1",
"transcript_support_level": null
},
{
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"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": 376,
"cds_end": null,
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"cds_start": 25,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000943811.1",
"gene_hgnc_id": 25748,
"gene_symbol": "TRMT2B",
"hgvs_c": "c.25C>G",
"hgvs_p": "p.Pro9Ala",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613870.1",
"strand": false,
"transcript": "ENST00000943811.1",
"transcript_support_level": null
},
{
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"aa_ref": "P",
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"biotype": "protein_coding",
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"cdna_length": 2954,
"cdna_start": 383,
"cds_end": null,
"cds_length": 1368,
"cds_start": 25,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000928863.1",
"gene_hgnc_id": 25748,
"gene_symbol": "TRMT2B",
"hgvs_c": "c.25C>G",
"hgvs_p": "p.Pro9Ala",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598922.1",
"strand": false,
"transcript": "ENST00000928863.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_length": 452,
"aa_ref": "P",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2887,
"cdna_start": 324,
"cds_end": null,
"cds_length": 1359,
"cds_start": 25,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000862831.1",
"gene_hgnc_id": 25748,
"gene_symbol": "TRMT2B",
"hgvs_c": "c.25C>G",
"hgvs_p": "p.Pro9Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532890.1",
"strand": false,
"transcript": "ENST00000862831.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 422,
"aa_ref": "P",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2814,
"cdna_start": 341,
"cds_end": null,
"cds_length": 1269,
"cds_start": 25,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000928861.1",
"gene_hgnc_id": 25748,
"gene_symbol": "TRMT2B",
"hgvs_c": "c.25C>G",
"hgvs_p": "p.Pro9Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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