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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: 3-12516635-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=12516635&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 12516635,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000284995.11",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSEN2",
"gene_hgnc_id": 28422,
"hgvs_c": "c.934G>A",
"hgvs_p": "p.Gly312Arg",
"transcript": "NM_025265.4",
"protein_id": "NP_079541.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 465,
"cds_start": 934,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 1352,
"cdna_end": null,
"cdna_length": 2753,
"mane_select": "ENST00000284995.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSEN2",
"gene_hgnc_id": 28422,
"hgvs_c": "c.934G>A",
"hgvs_p": "p.Gly312Arg",
"transcript": "ENST00000284995.11",
"protein_id": "ENSP00000284995.6",
"transcript_support_level": 1,
"aa_start": 312,
"aa_end": null,
"aa_length": 465,
"cds_start": 934,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 1352,
"cdna_end": null,
"cdna_length": 2753,
"mane_select": "NM_025265.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSEN2",
"gene_hgnc_id": 28422,
"hgvs_c": "c.934G>A",
"hgvs_p": "p.Gly312Arg",
"transcript": "ENST00000402228.7",
"protein_id": "ENSP00000385976.3",
"transcript_support_level": 1,
"aa_start": 312,
"aa_end": null,
"aa_length": 465,
"cds_start": 934,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 1089,
"cdna_end": null,
"cdna_length": 2149,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSEN2",
"gene_hgnc_id": 28422,
"hgvs_c": "c.757G>A",
"hgvs_p": "p.Gly253Arg",
"transcript": "ENST00000454502.6",
"protein_id": "ENSP00000392029.2",
"transcript_support_level": 1,
"aa_start": 253,
"aa_end": null,
"aa_length": 406,
"cds_start": 757,
"cds_end": null,
"cds_length": 1221,
"cdna_start": 849,
"cdna_end": null,
"cdna_length": 1909,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSEN2",
"gene_hgnc_id": 28422,
"hgvs_c": "c.934G>A",
"hgvs_p": "p.Gly312Arg",
"transcript": "NM_001321278.2",
"protein_id": "NP_001308207.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 516,
"cds_start": 934,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 989,
"cdna_end": null,
"cdna_length": 1857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSEN2",
"gene_hgnc_id": 28422,
"hgvs_c": "c.934G>A",
"hgvs_p": "p.Gly312Arg",
"transcript": "ENST00000446004.6",
"protein_id": "ENSP00000406238.2",
"transcript_support_level": 5,
"aa_start": 312,
"aa_end": null,
"aa_length": 516,
"cds_start": 934,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 1048,
"cdna_end": null,
"cdna_length": 1912,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSEN2",
"gene_hgnc_id": 28422,
"hgvs_c": "c.934G>A",
"hgvs_p": "p.Gly312Arg",
"transcript": "ENST00000679492.1",
"protein_id": "ENSP00000505331.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 516,
"cds_start": 934,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 1321,
"cdna_end": null,
"cdna_length": 2182,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSEN2",
"gene_hgnc_id": 28422,
"hgvs_c": "c.934G>A",
"hgvs_p": "p.Gly312Arg",
"transcript": "ENST00000680857.1",
"protein_id": "ENSP00000506578.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 516,
"cds_start": 934,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 1053,
"cdna_end": null,
"cdna_length": 1941,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSEN2",
"gene_hgnc_id": 28422,
"hgvs_c": "c.856G>A",
"hgvs_p": "p.Gly286Arg",
"transcript": "ENST00000412698.3",
"protein_id": "ENSP00000408528.3",
"transcript_support_level": 5,
"aa_start": 286,
"aa_end": null,
"aa_length": 490,
"cds_start": 856,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 956,
"cdna_end": null,
"cdna_length": 1810,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSEN2",
"gene_hgnc_id": 28422,
"hgvs_c": "c.856G>A",
"hgvs_p": "p.Gly286Arg",
"transcript": "ENST00000444864.6",
"protein_id": "ENSP00000407974.2",
"transcript_support_level": 2,
"aa_start": 286,
"aa_end": null,
"aa_length": 490,
"cds_start": 856,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 1191,
"cdna_end": null,
"cdna_length": 2045,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSEN2",
"gene_hgnc_id": 28422,
"hgvs_c": "c.991G>A",
"hgvs_p": "p.Gly331Arg",
"transcript": "ENST00000680275.1",
"protein_id": "ENSP00000505417.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 484,
"cds_start": 991,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 1029,
"cdna_end": null,
"cdna_length": 2425,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSEN2",
"gene_hgnc_id": 28422,
"hgvs_c": "c.934G>A",
"hgvs_p": "p.Gly312Arg",
"transcript": "NM_001145392.2",
"protein_id": "NP_001138864.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 465,
"cds_start": 934,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 1100,
"cdna_end": null,
"cdna_length": 2501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSEN2",
"gene_hgnc_id": 28422,
"hgvs_c": "c.934G>A",
"hgvs_p": "p.Gly312Arg",
"transcript": "NM_001321277.2",
"protein_id": "NP_001308206.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 465,
"cds_start": 934,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 989,
"cdna_end": null,
"cdna_length": 2390,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSEN2",
"gene_hgnc_id": 28422,
"hgvs_c": "c.934G>A",
"hgvs_p": "p.Gly312Arg",
"transcript": "ENST00000679699.1",
"protein_id": "ENSP00000505274.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
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"cds_start": 934,
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"cdna_start": 1048,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSEN2",
"gene_hgnc_id": 28422,
"hgvs_c": "c.934G>A",
"hgvs_p": "p.Gly312Arg",
"transcript": "ENST00000680986.1",
"protein_id": "ENSP00000505799.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 465,
"cds_start": 934,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 1538,
"cdna_end": null,
"cdna_length": 2934,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSEN2",
"gene_hgnc_id": 28422,
"hgvs_c": "c.934G>A",
"hgvs_p": "p.Gly312Arg",
"transcript": "ENST00000679367.1",
"protein_id": "ENSP00000506510.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 460,
"cds_start": 934,
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"cdna_start": 1269,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSEN2",
"gene_hgnc_id": 28422,
"hgvs_c": "c.934G>A",
"hgvs_p": "p.Gly312Arg",
"transcript": "ENST00000681713.1",
"protein_id": "ENSP00000506046.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 460,
"cds_start": 934,
"cds_end": null,
"cds_length": 1383,
"cdna_start": 1048,
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"cdna_length": 3442,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSEN2",
"gene_hgnc_id": 28422,
"hgvs_c": "c.913G>A",
"hgvs_p": "p.Gly305Arg",
"transcript": "ENST00000680354.1",
"protein_id": "ENSP00000505106.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 458,
"cds_start": 913,
"cds_end": null,
"cds_length": 1377,
"cdna_start": 913,
"cdna_end": null,
"cdna_length": 2292,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSEN2",
"gene_hgnc_id": 28422,
"hgvs_c": "c.856G>A",
"hgvs_p": "p.Gly286Arg",
"transcript": "NM_001145393.3",
"protein_id": "NP_001138865.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 439,
"cds_start": 856,
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"cdna_start": 911,
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},
{
"aa_ref": "G",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSEN2",
"gene_hgnc_id": 28422,
"hgvs_c": "c.856G>A",
"hgvs_p": "p.Gly286Arg",
"transcript": "NM_001321279.2",
"protein_id": "NP_001308208.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 439,
"cds_start": 856,
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"cdna_start": 1274,
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"biotype": null,
"feature": null
},
{
"aa_ref": "G",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSEN2",
"gene_hgnc_id": 28422,
"hgvs_c": "c.856G>A",
"hgvs_p": "p.Gly286Arg",
"transcript": "ENST00000415684.6",
"protein_id": "ENSP00000416510.1",
"transcript_support_level": 5,
"aa_start": 286,
"aa_end": null,
"aa_length": 439,
"cds_start": 856,
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"cdna_start": 956,
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"cdna_length": 2358,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSEN2",
"gene_hgnc_id": 28422,
"hgvs_c": "c.856G>A",
"hgvs_p": "p.Gly286Arg",
"transcript": "ENST00000681676.1",
"protein_id": "ENSP00000506163.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 439,
"cds_start": 856,
"cds_end": null,
"cds_length": 1320,
"cdna_start": 1249,
"cdna_end": null,
"cdna_length": 2293,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSEN2",
"gene_hgnc_id": 28422,
"hgvs_c": "c.856G>A",
"hgvs_p": "p.Gly286Arg",
"transcript": "ENST00000681343.1",
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{
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"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Pontocerebellar hypoplasia type 2B",
"pathogenicity_classification_combined": "Pathogenic",
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}
],
"message": null
}