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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: 3-177053847-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=177053847&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 177053847,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000457928.7",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.130G>A",
"hgvs_p": "p.Val44Ile",
"transcript": "NM_024665.7",
"protein_id": "NP_078941.2",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 514,
"cds_start": 130,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 613,
"cdna_end": null,
"cdna_length": 8182,
"mane_select": "ENST00000457928.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.130G>A",
"hgvs_p": "p.Val44Ile",
"transcript": "ENST00000457928.7",
"protein_id": "ENSP00000413251.3",
"transcript_support_level": 1,
"aa_start": 44,
"aa_end": null,
"aa_length": 514,
"cds_start": 130,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 613,
"cdna_end": null,
"cdna_length": 8182,
"mane_select": "NM_024665.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.130G>A",
"hgvs_p": "p.Val44Ile",
"transcript": "ENST00000430069.5",
"protein_id": "ENSP00000405574.1",
"transcript_support_level": 1,
"aa_start": 44,
"aa_end": null,
"aa_length": 514,
"cds_start": 130,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 390,
"cdna_end": null,
"cdna_length": 7948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.130G>A",
"hgvs_p": "p.Val44Ile",
"transcript": "NM_001321193.3",
"protein_id": "NP_001308122.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 514,
"cds_start": 130,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 390,
"cdna_end": null,
"cdna_length": 7959,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.130G>A",
"hgvs_p": "p.Val44Ile",
"transcript": "NM_001321194.3",
"protein_id": "NP_001308123.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 514,
"cds_start": 130,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 732,
"cdna_end": null,
"cdna_length": 8301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.130G>A",
"hgvs_p": "p.Val44Ile",
"transcript": "NM_001374327.1",
"protein_id": "NP_001361256.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 514,
"cds_start": 130,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 537,
"cdna_end": null,
"cdna_length": 8106,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.130G>A",
"hgvs_p": "p.Val44Ile",
"transcript": "NM_001374328.1",
"protein_id": "NP_001361257.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 514,
"cds_start": 130,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 420,
"cdna_end": null,
"cdna_length": 7989,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.130G>A",
"hgvs_p": "p.Val44Ile",
"transcript": "NM_001374329.1",
"protein_id": "NP_001361258.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 514,
"cds_start": 130,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 401,
"cdna_end": null,
"cdna_length": 7970,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.130G>A",
"hgvs_p": "p.Val44Ile",
"transcript": "ENST00000352800.10",
"protein_id": "ENSP00000263964.11",
"transcript_support_level": 5,
"aa_start": 44,
"aa_end": null,
"aa_length": 514,
"cds_start": 130,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 307,
"cdna_end": null,
"cdna_length": 2454,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.130G>A",
"hgvs_p": "p.Val44Ile",
"transcript": "ENST00000422066.6",
"protein_id": "ENSP00000398477.2",
"transcript_support_level": 4,
"aa_start": 44,
"aa_end": null,
"aa_length": 514,
"cds_start": 130,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 474,
"cdna_end": null,
"cdna_length": 2619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.130G>A",
"hgvs_p": "p.Val44Ile",
"transcript": "ENST00000422442.6",
"protein_id": "ENSP00000387849.3",
"transcript_support_level": 5,
"aa_start": 44,
"aa_end": null,
"aa_length": 514,
"cds_start": 130,
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"cdna_start": 477,
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"cdna_length": 2535,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"strand": false,
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],
"exon_rank": 4,
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"exon_count": 16,
"intron_rank": null,
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"gene_symbol": "TBL1XR1",
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"hgvs_c": "c.130G>A",
"hgvs_p": "p.Val44Ile",
"transcript": "ENST00000673974.1",
"protein_id": "ENSP00000501274.1",
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"aa_start": 44,
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"cds_start": 130,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
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"exon_count": 17,
"intron_rank": null,
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"gene_symbol": "TBL1XR1",
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"hgvs_c": "c.130G>A",
"hgvs_p": "p.Val44Ile",
"transcript": "ENST00000704383.1",
"protein_id": "ENSP00000515885.1",
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"feature": null
},
{
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],
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"gene_symbol": "TBL1XR1",
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"hgvs_c": "c.130G>A",
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},
{
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"intron_rank": null,
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"gene_symbol": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.130G>A",
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"transcript": "ENST00000704385.1",
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},
{
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],
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"gene_symbol": "TBL1XR1",
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"hgvs_c": "c.130G>A",
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"transcript": "ENST00000437738.5",
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},
{
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],
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"gene_symbol": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.130G>A",
"hgvs_p": "p.Val44Ile",
"transcript": "ENST00000635794.1",
"protein_id": "ENSP00000490246.1",
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"aa_start": 44,
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"cdna_start": 503,
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"mane_select": null,
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"feature": null
},
{
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"strand": false,
"consequences": [
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],
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"exon_count": 5,
"intron_rank": null,
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"gene_symbol": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.121G>A",
"hgvs_p": "p.Val41Ile",
"transcript": "ENST00000630796.2",
"protein_id": "ENSP00000486235.1",
"transcript_support_level": 5,
"aa_start": 41,
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"aa_length": 121,
"cds_start": 121,
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"cdna_start": 410,
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},
{
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"hgvs_c": "c.130G>A",
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"transcript": "ENST00000450267.5",
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},
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],
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"intron_rank": null,
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"gene_symbol": "TBL1XR1",
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"transcript": "ENST00000630833.2",
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},
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],
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"transcript": "ENST00000431674.5",
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"cds_start": 130,
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"cdna_start": 400,
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"cdna_length": 559,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.130G>A",
"hgvs_p": "p.Val44Ile",
"transcript": "ENST00000443315.5",
"protein_id": "ENSP00000396120.1",
"transcript_support_level": 4,
"aa_start": 44,
"aa_end": null,
"aa_length": 80,
"cds_start": 130,
"cds_end": null,
"cds_length": 244,
"cdna_start": 466,
"cdna_end": null,
"cdna_length": 580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1XR1",
"gene_hgnc_id": 29529,
"hgvs_c": "c.130G>A",
"hgvs_p": "p.Val44Ile",
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