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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: 20-9365473-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=9365473&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 9365473,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_001377142.1",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB4",
"gene_hgnc_id": 9059,
"hgvs_c": "c.462G>A",
"hgvs_p": "p.Leu154Leu",
"transcript": "NM_001377142.1",
"protein_id": "NP_001364071.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 1206,
"cds_start": 462,
"cds_end": null,
"cds_length": 3621,
"cdna_start": 716,
"cdna_end": null,
"cdna_length": 5674,
"mane_select": "ENST00000378473.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377142.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB4",
"gene_hgnc_id": 9059,
"hgvs_c": "c.462G>A",
"hgvs_p": "p.Leu154Leu",
"transcript": "ENST00000378473.9",
"protein_id": "ENSP00000367734.5",
"transcript_support_level": 1,
"aa_start": 154,
"aa_end": null,
"aa_length": 1206,
"cds_start": 462,
"cds_end": null,
"cds_length": 3621,
"cdna_start": 716,
"cdna_end": null,
"cdna_length": 5674,
"mane_select": "NM_001377142.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378473.9"
},
{
"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": 36,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PLCB4",
"gene_hgnc_id": 9059,
"hgvs_c": "c.449+2498G>A",
"hgvs_p": null,
"transcript": "ENST00000278655.9",
"protein_id": "ENSP00000278655.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1157,
"cds_start": null,
"cds_end": null,
"cds_length": 3474,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5402,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000278655.9"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB4",
"gene_hgnc_id": 9059,
"hgvs_c": "c.462G>A",
"hgvs_p": "p.Leu154Leu",
"transcript": "ENST00000946820.1",
"protein_id": "ENSP00000616879.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 1210,
"cds_start": 462,
"cds_end": null,
"cds_length": 3633,
"cdna_start": 818,
"cdna_end": null,
"cdna_length": 4356,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946820.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB4",
"gene_hgnc_id": 9059,
"hgvs_c": "c.462G>A",
"hgvs_p": "p.Leu154Leu",
"transcript": "ENST00000685298.1",
"protein_id": "ENSP00000509390.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 1209,
"cds_start": 462,
"cds_end": null,
"cds_length": 3630,
"cdna_start": 725,
"cdna_end": null,
"cdna_length": 7825,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000685298.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB4",
"gene_hgnc_id": 9059,
"hgvs_c": "c.462G>A",
"hgvs_p": "p.Leu154Leu",
"transcript": "NM_001377143.1",
"protein_id": "NP_001364072.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 1206,
"cds_start": 462,
"cds_end": null,
"cds_length": 3621,
"cdna_start": 660,
"cdna_end": null,
"cdna_length": 5618,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377143.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB4",
"gene_hgnc_id": 9059,
"hgvs_c": "c.462G>A",
"hgvs_p": "p.Leu154Leu",
"transcript": "ENST00000685568.1",
"protein_id": "ENSP00000508726.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 1206,
"cds_start": 462,
"cds_end": null,
"cds_length": 3621,
"cdna_start": 614,
"cdna_end": null,
"cdna_length": 5235,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000685568.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB4",
"gene_hgnc_id": 9059,
"hgvs_c": "c.462G>A",
"hgvs_p": "p.Leu154Leu",
"transcript": "ENST00000920652.1",
"protein_id": "ENSP00000590711.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 1206,
"cds_start": 462,
"cds_end": null,
"cds_length": 3621,
"cdna_start": 1007,
"cdna_end": null,
"cdna_length": 5965,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920652.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB4",
"gene_hgnc_id": 9059,
"hgvs_c": "c.462G>A",
"hgvs_p": "p.Leu154Leu",
"transcript": "ENST00000946818.1",
"protein_id": "ENSP00000616877.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 1206,
"cds_start": 462,
"cds_end": null,
"cds_length": 3621,
"cdna_start": 935,
"cdna_end": null,
"cdna_length": 5890,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946818.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB4",
"gene_hgnc_id": 9059,
"hgvs_c": "c.462G>A",
"hgvs_p": "p.Leu154Leu",
"transcript": "ENST00000946821.1",
"protein_id": "ENSP00000616880.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 1206,
"cds_start": 462,
"cds_end": null,
"cds_length": 3621,
"cdna_start": 853,
"cdna_end": null,
"cdna_length": 4358,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946821.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB4",
"gene_hgnc_id": 9059,
"hgvs_c": "c.462G>A",
"hgvs_p": "p.Leu154Leu",
"transcript": "ENST00000946817.1",
"protein_id": "ENSP00000616876.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 1198,
"cds_start": 462,
"cds_end": null,
"cds_length": 3597,
"cdna_start": 815,
"cdna_end": null,
"cdna_length": 5747,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946817.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB4",
"gene_hgnc_id": 9059,
"hgvs_c": "c.462G>A",
"hgvs_p": "p.Leu154Leu",
"transcript": "NM_000933.4",
"protein_id": "NP_000924.3",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 1194,
"cds_start": 462,
"cds_end": null,
"cds_length": 3585,
"cdna_start": 716,
"cdna_end": null,
"cdna_length": 5638,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000933.4"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB4",
"gene_hgnc_id": 9059,
"hgvs_c": "c.462G>A",
"hgvs_p": "p.Leu154Leu",
"transcript": "NM_001377134.2",
"protein_id": "NP_001364063.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 1194,
"cds_start": 462,
"cds_end": null,
"cds_length": 3585,
"cdna_start": 822,
"cdna_end": null,
"cdna_length": 5744,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377134.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB4",
"gene_hgnc_id": 9059,
"hgvs_c": "c.462G>A",
"hgvs_p": "p.Leu154Leu",
"transcript": "NM_001377135.1",
"protein_id": "NP_001364064.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 1194,
"cds_start": 462,
"cds_end": null,
"cds_length": 3585,
"cdna_start": 660,
"cdna_end": null,
"cdna_length": 5582,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377135.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB4",
"gene_hgnc_id": 9059,
"hgvs_c": "c.462G>A",
"hgvs_p": "p.Leu154Leu",
"transcript": "ENST00000378501.3",
"protein_id": "ENSP00000367762.2",
"transcript_support_level": 5,
"aa_start": 154,
"aa_end": null,
"aa_length": 1194,
"cds_start": 462,
"cds_end": null,
"cds_length": 3585,
"cdna_start": 653,
"cdna_end": null,
"cdna_length": 6009,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378501.3"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB4",
"gene_hgnc_id": 9059,
"hgvs_c": "c.462G>A",
"hgvs_p": "p.Leu154Leu",
"transcript": "ENST00000686313.1",
"protein_id": "ENSP00000508595.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 1194,
"cds_start": 462,
"cds_end": null,
"cds_length": 3585,
"cdna_start": 649,
"cdna_end": null,
"cdna_length": 5233,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000686313.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB4",
"gene_hgnc_id": 9059,
"hgvs_c": "c.462G>A",
"hgvs_p": "p.Leu154Leu",
"transcript": "ENST00000686871.1",
"protein_id": "ENSP00000510118.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 1194,
"cds_start": 462,
"cds_end": null,
"cds_length": 3585,
"cdna_start": 669,
"cdna_end": null,
"cdna_length": 5253,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000686871.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB4",
"gene_hgnc_id": 9059,
"hgvs_c": "c.462G>A",
"hgvs_p": "p.Leu154Leu",
"transcript": "ENST00000686976.1",
"protein_id": "ENSP00000508600.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 1194,
"cds_start": 462,
"cds_end": null,
"cds_length": 3585,
"cdna_start": 690,
"cdna_end": null,
"cdna_length": 5274,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000686976.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB4",
"gene_hgnc_id": 9059,
"hgvs_c": "c.462G>A",
"hgvs_p": "p.Leu154Leu",
"transcript": "ENST00000693752.1",
"protein_id": "ENSP00000508677.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 1194,
"cds_start": 462,
"cds_end": null,
"cds_length": 3585,
"cdna_start": 607,
"cdna_end": null,
"cdna_length": 5191,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000693752.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB4",
"gene_hgnc_id": 9059,
"hgvs_c": "c.462G>A",
"hgvs_p": "p.Leu154Leu",
"transcript": "ENST00000920653.1",
"protein_id": "ENSP00000590712.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 1194,
"cds_start": 462,
"cds_end": null,
"cds_length": 3585,
"cdna_start": 996,
"cdna_end": null,
"cdna_length": 5582,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920653.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB4",
"gene_hgnc_id": 9059,
"hgvs_c": "c.462G>A",
"hgvs_p": "p.Leu154Leu",
"transcript": "ENST00000920654.1",
"protein_id": "ENSP00000590713.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 1194,
"cds_start": 462,
"cds_end": null,
"cds_length": 3585,
"cdna_start": 666,
"cdna_end": null,
"cdna_length": 5233,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920654.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB4",
"gene_hgnc_id": 9059,
"hgvs_c": "c.462G>A",
"hgvs_p": "p.Leu154Leu",
"transcript": "ENST00000946822.1",
"protein_id": "ENSP00000616881.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 1194,
"cds_start": 462,
"cds_end": null,
"cds_length": 3585,
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"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:1",
"phenotype_combined": "Auriculocondylar syndrome 2|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}