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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: 1-153969038-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=153969038&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 153969038,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_130898.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREB3L4",
"gene_hgnc_id": 18854,
"hgvs_c": "c.283C>A",
"hgvs_p": "p.Pro95Thr",
"transcript": "NM_001255978.2",
"protein_id": "NP_001242907.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 395,
"cds_start": 283,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000368607.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001255978.2"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREB3L4",
"gene_hgnc_id": 18854,
"hgvs_c": "c.283C>A",
"hgvs_p": "p.Pro95Thr",
"transcript": "ENST00000368607.8",
"protein_id": "ENSP00000357596.3",
"transcript_support_level": 1,
"aa_start": 95,
"aa_end": null,
"aa_length": 395,
"cds_start": 283,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001255978.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368607.8"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREB3L4",
"gene_hgnc_id": 18854,
"hgvs_c": "c.283C>A",
"hgvs_p": "p.Pro95Thr",
"transcript": "ENST00000271889.8",
"protein_id": "ENSP00000271889.4",
"transcript_support_level": 1,
"aa_start": 95,
"aa_end": null,
"aa_length": 395,
"cds_start": 283,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000271889.8"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREB3L4",
"gene_hgnc_id": 18854,
"hgvs_c": "c.283C>A",
"hgvs_p": "p.Pro95Thr",
"transcript": "ENST00000368603.5",
"protein_id": "ENSP00000357592.1",
"transcript_support_level": 1,
"aa_start": 95,
"aa_end": null,
"aa_length": 395,
"cds_start": 283,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368603.5"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREB3L4",
"gene_hgnc_id": 18854,
"hgvs_c": "c.223C>A",
"hgvs_p": "p.Pro75Thr",
"transcript": "ENST00000368600.7",
"protein_id": "ENSP00000357589.3",
"transcript_support_level": 1,
"aa_start": 75,
"aa_end": null,
"aa_length": 375,
"cds_start": 223,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368600.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285779",
"gene_hgnc_id": null,
"hgvs_c": "n.193-5335G>T",
"hgvs_p": null,
"transcript": "ENST00000648921.1",
"protein_id": "ENSP00000498105.1",
"transcript_support_level": null,
"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": "nonsense_mediated_decay",
"feature": "ENST00000648921.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREB3L4",
"gene_hgnc_id": 18854,
"hgvs_c": "c.283C>A",
"hgvs_p": "p.Pro95Thr",
"transcript": "NM_001255979.2",
"protein_id": "NP_001242908.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 395,
"cds_start": 283,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001255979.2"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREB3L4",
"gene_hgnc_id": 18854,
"hgvs_c": "c.283C>A",
"hgvs_p": "p.Pro95Thr",
"transcript": "NM_130898.4",
"protein_id": "NP_570968.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 395,
"cds_start": 283,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_130898.4"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREB3L4",
"gene_hgnc_id": 18854,
"hgvs_c": "c.283C>A",
"hgvs_p": "p.Pro95Thr",
"transcript": "ENST00000885128.1",
"protein_id": "ENSP00000555187.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 395,
"cds_start": 283,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885128.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREB3L4",
"gene_hgnc_id": 18854,
"hgvs_c": "c.283C>A",
"hgvs_p": "p.Pro95Thr",
"transcript": "ENST00000885131.1",
"protein_id": "ENSP00000555190.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 395,
"cds_start": 283,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885131.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREB3L4",
"gene_hgnc_id": 18854,
"hgvs_c": "c.283C>A",
"hgvs_p": "p.Pro95Thr",
"transcript": "ENST00000885140.1",
"protein_id": "ENSP00000555199.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 395,
"cds_start": 283,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885140.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREB3L4",
"gene_hgnc_id": 18854,
"hgvs_c": "c.283C>A",
"hgvs_p": "p.Pro95Thr",
"transcript": "ENST00000930318.1",
"protein_id": "ENSP00000600377.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 395,
"cds_start": 283,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930318.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREB3L4",
"gene_hgnc_id": 18854,
"hgvs_c": "c.283C>A",
"hgvs_p": "p.Pro95Thr",
"transcript": "ENST00000930323.1",
"protein_id": "ENSP00000600382.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 395,
"cds_start": 283,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930323.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREB3L4",
"gene_hgnc_id": 18854,
"hgvs_c": "c.283C>A",
"hgvs_p": "p.Pro95Thr",
"transcript": "ENST00000930324.1",
"protein_id": "ENSP00000600383.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 395,
"cds_start": 283,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930324.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREB3L4",
"gene_hgnc_id": 18854,
"hgvs_c": "c.283C>A",
"hgvs_p": "p.Pro95Thr",
"transcript": "ENST00000930327.1",
"protein_id": "ENSP00000600386.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 395,
"cds_start": 283,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930327.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREB3L4",
"gene_hgnc_id": 18854,
"hgvs_c": "c.223C>A",
"hgvs_p": "p.Pro75Thr",
"transcript": "NM_001255980.2",
"protein_id": "NP_001242909.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 375,
"cds_start": 223,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001255980.2"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREB3L4",
"gene_hgnc_id": 18854,
"hgvs_c": "c.223C>A",
"hgvs_p": "p.Pro75Thr",
"transcript": "NM_001255981.2",
"protein_id": "NP_001242910.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 375,
"cds_start": 223,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001255981.2"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREB3L4",
"gene_hgnc_id": 18854,
"hgvs_c": "c.223C>A",
"hgvs_p": "p.Pro75Thr",
"transcript": "ENST00000885129.1",
"protein_id": "ENSP00000555188.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 375,
"cds_start": 223,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885129.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREB3L4",
"gene_hgnc_id": 18854,
"hgvs_c": "c.223C>A",
"hgvs_p": "p.Pro75Thr",
"transcript": "ENST00000885130.1",
"protein_id": "ENSP00000555189.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 375,
"cds_start": 223,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885130.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREB3L4",
"gene_hgnc_id": 18854,
"hgvs_c": "c.223C>A",
"hgvs_p": "p.Pro75Thr",
"transcript": "ENST00000885133.1",
"protein_id": "ENSP00000555192.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 375,
"cds_start": 223,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885133.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREB3L4",
"gene_hgnc_id": 18854,
"hgvs_c": "c.223C>A",
"hgvs_p": "p.Pro75Thr",
"transcript": "ENST00000885134.1",
"protein_id": "ENSP00000555193.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 375,
"cds_start": 223,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885134.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREB3L4",
"gene_hgnc_id": 18854,
"hgvs_c": "c.223C>A",
"hgvs_p": "p.Pro75Thr",
"transcript": "ENST00000885137.1",
"protein_id": "ENSP00000555196.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 375,
"cds_start": 223,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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}
],
"message": null
}