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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-101038014-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=101038014&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 101038014,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_024917.6",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT2B",
"gene_hgnc_id": 25748,
"hgvs_c": "c.341T>G",
"hgvs_p": "p.Leu114Arg",
"transcript": "NM_024917.6",
"protein_id": "NP_079193.2",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 504,
"cds_start": 341,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000372936.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024917.6"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT2B",
"gene_hgnc_id": 25748,
"hgvs_c": "c.341T>G",
"hgvs_p": "p.Leu114Arg",
"transcript": "ENST00000372936.4",
"protein_id": "ENSP00000362027.3",
"transcript_support_level": 1,
"aa_start": 114,
"aa_end": null,
"aa_length": 504,
"cds_start": 341,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024917.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372936.4"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT2B",
"gene_hgnc_id": 25748,
"hgvs_c": "c.341T>G",
"hgvs_p": "p.Leu114Arg",
"transcript": "ENST00000372935.5",
"protein_id": "ENSP00000362026.1",
"transcript_support_level": 1,
"aa_start": 114,
"aa_end": null,
"aa_length": 504,
"cds_start": 341,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372935.5"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT2B",
"gene_hgnc_id": 25748,
"hgvs_c": "c.341T>G",
"hgvs_p": "p.Leu114Arg",
"transcript": "ENST00000545398.5",
"protein_id": "ENSP00000438134.1",
"transcript_support_level": 1,
"aa_start": 114,
"aa_end": null,
"aa_length": 504,
"cds_start": 341,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000545398.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TRMT2B",
"gene_hgnc_id": 25748,
"hgvs_c": "c.304-941T>G",
"hgvs_p": null,
"transcript": "ENST00000372939.5",
"protein_id": "ENSP00000362030.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 459,
"cds_start": null,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372939.5"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT2B",
"gene_hgnc_id": 25748,
"hgvs_c": "c.341T>G",
"hgvs_p": "p.Leu114Arg",
"transcript": "NM_001167970.2",
"protein_id": "NP_001161442.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 504,
"cds_start": 341,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001167970.2"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT2B",
"gene_hgnc_id": 25748,
"hgvs_c": "c.341T>G",
"hgvs_p": "p.Leu114Arg",
"transcript": "NM_001167972.2",
"protein_id": "NP_001161444.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 504,
"cds_start": 341,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001167972.2"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT2B",
"gene_hgnc_id": 25748,
"hgvs_c": "c.341T>G",
"hgvs_p": "p.Leu114Arg",
"transcript": "ENST00000862825.1",
"protein_id": "ENSP00000532885.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 504,
"cds_start": 341,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862825.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT2B",
"gene_hgnc_id": 25748,
"hgvs_c": "c.341T>G",
"hgvs_p": "p.Leu114Arg",
"transcript": "ENST00000862833.1",
"protein_id": "ENSP00000532892.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 504,
"cds_start": 341,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862833.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT2B",
"gene_hgnc_id": 25748,
"hgvs_c": "c.341T>G",
"hgvs_p": "p.Leu114Arg",
"transcript": "ENST00000928862.1",
"protein_id": "ENSP00000598921.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 504,
"cds_start": 341,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928862.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT2B",
"gene_hgnc_id": 25748,
"hgvs_c": "c.341T>G",
"hgvs_p": "p.Leu114Arg",
"transcript": "ENST00000943813.1",
"protein_id": "ENSP00000613872.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 504,
"cds_start": 341,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943813.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT2B",
"gene_hgnc_id": 25748,
"hgvs_c": "c.341T>G",
"hgvs_p": "p.Leu114Arg",
"transcript": "ENST00000928859.1",
"protein_id": "ENSP00000598918.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 503,
"cds_start": 341,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928859.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT2B",
"gene_hgnc_id": 25748,
"hgvs_c": "c.341T>G",
"hgvs_p": "p.Leu114Arg",
"transcript": "ENST00000928863.1",
"protein_id": "ENSP00000598922.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 455,
"cds_start": 341,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928863.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT2B",
"gene_hgnc_id": 25748,
"hgvs_c": "c.185T>G",
"hgvs_p": "p.Leu62Arg",
"transcript": "ENST00000862831.1",
"protein_id": "ENSP00000532890.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 452,
"cds_start": 185,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862831.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT2B",
"gene_hgnc_id": 25748,
"hgvs_c": "c.95T>G",
"hgvs_p": "p.Leu32Arg",
"transcript": "ENST00000928861.1",
"protein_id": "ENSP00000598920.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 422,
"cds_start": 95,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928861.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT2B",
"gene_hgnc_id": 25748,
"hgvs_c": "c.341T>G",
"hgvs_p": "p.Leu114Arg",
"transcript": "XM_005262196.3",
"protein_id": "XP_005262253.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 504,
"cds_start": 341,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005262196.3"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT2B",
"gene_hgnc_id": 25748,
"hgvs_c": "c.341T>G",
"hgvs_p": "p.Leu114Arg",
"transcript": "XM_047442532.1",
"protein_id": "XP_047298488.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 504,
"cds_start": 341,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442532.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT2B",
"gene_hgnc_id": 25748,
"hgvs_c": "c.-17T>G",
"hgvs_p": null,
"transcript": "XM_011531042.3",
"protein_id": "XP_011529344.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 385,
"cds_start": null,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531042.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT2B",
"gene_hgnc_id": 25748,
"hgvs_c": "c.-17T>G",
"hgvs_p": null,
"transcript": "XM_017029865.2",
"protein_id": "XP_016885354.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 385,
"cds_start": null,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017029865.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT2B",
"gene_hgnc_id": 25748,
"hgvs_c": "c.-17T>G",
"hgvs_p": null,
"transcript": "XM_017029870.2",
"protein_id": "XP_016885359.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 385,
"cds_start": null,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017029870.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT2B",
"gene_hgnc_id": 25748,
"hgvs_c": "c.-17T>G",
"hgvs_p": null,
"transcript": "XM_047442534.1",
"protein_id": "XP_047298490.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 385,
"cds_start": null,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442534.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TRMT2B",
"gene_hgnc_id": 25748,
"hgvs_c": "c.304-941T>G",
"hgvs_p": null,
"transcript": "NM_001167971.2",
"protein_id": "NP_001161443.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 459,
"cds_start": null,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001167971.2"
},
{
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.18,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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{
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"verdict": "Likely_benign",
"transcript": "NM_024917.6",
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"effects": [
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],
"inheritance_mode": "",
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}