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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: 16-22309025-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=22309025&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 22309025,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_018119.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3E",
"gene_hgnc_id": 30347,
"hgvs_c": "c.266C>T",
"hgvs_p": "p.Thr89Ile",
"transcript": "NM_018119.4",
"protein_id": "NP_060589.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 708,
"cds_start": 266,
"cds_end": null,
"cds_length": 2127,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000299853.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018119.4"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3E",
"gene_hgnc_id": 30347,
"hgvs_c": "c.266C>T",
"hgvs_p": "p.Thr89Ile",
"transcript": "ENST00000299853.10",
"protein_id": "ENSP00000299853.5",
"transcript_support_level": 1,
"aa_start": 89,
"aa_end": null,
"aa_length": 708,
"cds_start": 266,
"cds_end": null,
"cds_length": 2127,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018119.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000299853.10"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3E",
"gene_hgnc_id": 30347,
"hgvs_c": "c.266C>T",
"hgvs_p": "p.Thr89Ile",
"transcript": "ENST00000359210.8",
"protein_id": "ENSP00000352140.4",
"transcript_support_level": 1,
"aa_start": 89,
"aa_end": null,
"aa_length": 666,
"cds_start": 266,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359210.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3E",
"gene_hgnc_id": 30347,
"hgvs_c": "n.387C>T",
"hgvs_p": null,
"transcript": "ENST00000564061.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000564061.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3E",
"gene_hgnc_id": 30347,
"hgvs_c": "c.266C>T",
"hgvs_p": "p.Thr89Ile",
"transcript": "ENST00000965476.1",
"protein_id": "ENSP00000635535.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 725,
"cds_start": 266,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965476.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3E",
"gene_hgnc_id": 30347,
"hgvs_c": "c.266C>T",
"hgvs_p": "p.Thr89Ile",
"transcript": "ENST00000904756.1",
"protein_id": "ENSP00000574815.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 708,
"cds_start": 266,
"cds_end": null,
"cds_length": 2127,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904756.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3E",
"gene_hgnc_id": 30347,
"hgvs_c": "c.266C>T",
"hgvs_p": "p.Thr89Ile",
"transcript": "ENST00000934044.1",
"protein_id": "ENSP00000604103.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 708,
"cds_start": 266,
"cds_end": null,
"cds_length": 2127,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934044.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3E",
"gene_hgnc_id": 30347,
"hgvs_c": "c.266C>T",
"hgvs_p": "p.Thr89Ile",
"transcript": "ENST00000934045.1",
"protein_id": "ENSP00000604104.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 708,
"cds_start": 266,
"cds_end": null,
"cds_length": 2127,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934045.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3E",
"gene_hgnc_id": 30347,
"hgvs_c": "c.266C>T",
"hgvs_p": "p.Thr89Ile",
"transcript": "ENST00000934047.1",
"protein_id": "ENSP00000604106.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 708,
"cds_start": 266,
"cds_end": null,
"cds_length": 2127,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934047.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3E",
"gene_hgnc_id": 30347,
"hgvs_c": "c.266C>T",
"hgvs_p": "p.Thr89Ile",
"transcript": "ENST00000934048.1",
"protein_id": "ENSP00000604107.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 708,
"cds_start": 266,
"cds_end": null,
"cds_length": 2127,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934048.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3E",
"gene_hgnc_id": 30347,
"hgvs_c": "c.266C>T",
"hgvs_p": "p.Thr89Ile",
"transcript": "ENST00000965477.1",
"protein_id": "ENSP00000635536.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 708,
"cds_start": 266,
"cds_end": null,
"cds_length": 2127,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965477.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3E",
"gene_hgnc_id": 30347,
"hgvs_c": "c.266C>T",
"hgvs_p": "p.Thr89Ile",
"transcript": "ENST00000904753.1",
"protein_id": "ENSP00000574812.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 707,
"cds_start": 266,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904753.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3E",
"gene_hgnc_id": 30347,
"hgvs_c": "c.266C>T",
"hgvs_p": "p.Thr89Ile",
"transcript": "ENST00000904755.1",
"protein_id": "ENSP00000574814.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 705,
"cds_start": 266,
"cds_end": null,
"cds_length": 2118,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904755.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3E",
"gene_hgnc_id": 30347,
"hgvs_c": "c.266C>T",
"hgvs_p": "p.Thr89Ile",
"transcript": "ENST00000904754.1",
"protein_id": "ENSP00000574813.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 704,
"cds_start": 266,
"cds_end": null,
"cds_length": 2115,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904754.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3E",
"gene_hgnc_id": 30347,
"hgvs_c": "c.266C>T",
"hgvs_p": "p.Thr89Ile",
"transcript": "ENST00000934046.1",
"protein_id": "ENSP00000604105.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 704,
"cds_start": 266,
"cds_end": null,
"cds_length": 2115,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934046.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3E",
"gene_hgnc_id": 30347,
"hgvs_c": "c.266C>T",
"hgvs_p": "p.Thr89Ile",
"transcript": "ENST00000904752.1",
"protein_id": "ENSP00000574811.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 703,
"cds_start": 266,
"cds_end": null,
"cds_length": 2112,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904752.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3E",
"gene_hgnc_id": 30347,
"hgvs_c": "c.266C>T",
"hgvs_p": "p.Thr89Ile",
"transcript": "ENST00000934043.1",
"protein_id": "ENSP00000604102.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 693,
"cds_start": 266,
"cds_end": null,
"cds_length": 2082,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934043.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3E",
"gene_hgnc_id": 30347,
"hgvs_c": "c.266C>T",
"hgvs_p": "p.Thr89Ile",
"transcript": "NM_001258033.2",
"protein_id": "NP_001244962.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 687,
"cds_start": 266,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001258033.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3E",
"gene_hgnc_id": 30347,
"hgvs_c": "c.266C>T",
"hgvs_p": "p.Thr89Ile",
"transcript": "ENST00000564209.5",
"protein_id": "ENSP00000456967.1",
"transcript_support_level": 2,
"aa_start": 89,
"aa_end": null,
"aa_length": 687,
"cds_start": 266,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000564209.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3E",
"gene_hgnc_id": 30347,
"hgvs_c": "c.266C>T",
"hgvs_p": "p.Thr89Ile",
"transcript": "ENST00000904757.1",
"protein_id": "ENSP00000574816.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 686,
"cds_start": 266,
"cds_end": null,
"cds_length": 2061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904757.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3E",
"gene_hgnc_id": 30347,
"hgvs_c": "c.266C>T",
"hgvs_p": "p.Thr89Ile",
"transcript": "ENST00000934042.1",
"protein_id": "ENSP00000604101.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 682,
"cds_start": 266,
"cds_end": null,
"cds_length": 2049,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934042.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3E",
"gene_hgnc_id": 30347,
"hgvs_c": "c.158C>T",
"hgvs_p": "p.Thr53Ile",
"transcript": "NM_001258034.2",
"protein_id": "NP_001244963.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 672,
"cds_start": 158,
"cds_end": null,
"cds_length": 2019,
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