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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: 3-39126792-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=39126792&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 39126792,
"ref": "T",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000683103.1",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "TTC21A",
"gene_hgnc_id": 30761,
"hgvs_c": "c.1522+402T>A",
"hgvs_p": null,
"transcript": "NM_001366900.1",
"protein_id": "NP_001353829.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1313,
"cds_start": -4,
"cds_end": null,
"cds_length": 3942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4212,
"mane_select": "ENST00000683103.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "TTC21A",
"gene_hgnc_id": 30761,
"hgvs_c": "c.1522+402T>A",
"hgvs_p": null,
"transcript": "ENST00000683103.1",
"protein_id": "ENSP00000507739.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1313,
"cds_start": -4,
"cds_end": null,
"cds_length": 3942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4212,
"mane_select": "NM_001366900.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "TTC21A",
"gene_hgnc_id": 30761,
"hgvs_c": "c.1546+402T>A",
"hgvs_p": null,
"transcript": "ENST00000431162.6",
"protein_id": "ENSP00000398211.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1320,
"cds_start": -4,
"cds_end": null,
"cds_length": 3963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4209,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "TTC21A",
"gene_hgnc_id": 30761,
"hgvs_c": "c.1546+402T>A",
"hgvs_p": null,
"transcript": "NM_001366899.1",
"protein_id": "NP_001353828.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1321,
"cds_start": -4,
"cds_end": null,
"cds_length": 3966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4236,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "TTC21A",
"gene_hgnc_id": 30761,
"hgvs_c": "c.1546+402T>A",
"hgvs_p": null,
"transcript": "NM_145755.3",
"protein_id": "NP_665698.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1320,
"cds_start": -4,
"cds_end": null,
"cds_length": 3963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4233,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "TTC21A",
"gene_hgnc_id": 30761,
"hgvs_c": "c.1399+402T>A",
"hgvs_p": null,
"transcript": "NM_001105513.3",
"protein_id": "NP_001098983.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1272,
"cds_start": -4,
"cds_end": null,
"cds_length": 3819,
"cdna_start": null,
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"cdna_length": 4089,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "TTC21A",
"gene_hgnc_id": 30761,
"hgvs_c": "c.1399+402T>A",
"hgvs_p": null,
"transcript": "ENST00000440121.1",
"protein_id": "ENSP00000410882.1",
"transcript_support_level": 2,
"aa_start": null,
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"aa_length": 1272,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "TTC21A",
"gene_hgnc_id": 30761,
"hgvs_c": "n.1522+402T>A",
"hgvs_p": null,
"transcript": "ENST00000430597.6",
"protein_id": "ENSP00000405396.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3988,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "TTC21A",
"gene_hgnc_id": 30761,
"hgvs_c": "n.1680+402T>A",
"hgvs_p": null,
"transcript": "NR_159494.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"gene_symbol": "TTC21A",
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"hgvs_c": "n.1550+1260T>A",
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"transcript": "NR_159495.1",
"protein_id": null,
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},
{
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"strand": true,
"consequences": [
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],
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{
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],
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],
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],
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],
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}