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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: 20-9409086-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=9409086&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 9409086,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001377142.1",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB4",
"gene_hgnc_id": 9059,
"hgvs_c": "c.1904A>G",
"hgvs_p": "p.Tyr635Cys",
"transcript": "NM_001377142.1",
"protein_id": "NP_001364071.1",
"transcript_support_level": null,
"aa_start": 635,
"aa_end": null,
"aa_length": 1206,
"cds_start": 1904,
"cds_end": null,
"cds_length": 3621,
"cdna_start": 2158,
"cdna_end": null,
"cdna_length": 5674,
"mane_select": "ENST00000378473.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377142.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB4",
"gene_hgnc_id": 9059,
"hgvs_c": "c.1904A>G",
"hgvs_p": "p.Tyr635Cys",
"transcript": "ENST00000378473.9",
"protein_id": "ENSP00000367734.5",
"transcript_support_level": 1,
"aa_start": 635,
"aa_end": null,
"aa_length": 1206,
"cds_start": 1904,
"cds_end": null,
"cds_length": 3621,
"cdna_start": 2158,
"cdna_end": null,
"cdna_length": 5674,
"mane_select": "NM_001377142.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378473.9"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB4",
"gene_hgnc_id": 9059,
"hgvs_c": "c.1814A>G",
"hgvs_p": "p.Tyr605Cys",
"transcript": "ENST00000278655.9",
"protein_id": "ENSP00000278655.5",
"transcript_support_level": 1,
"aa_start": 605,
"aa_end": null,
"aa_length": 1157,
"cds_start": 1814,
"cds_end": null,
"cds_length": 3474,
"cdna_start": 1928,
"cdna_end": null,
"cdna_length": 5402,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000278655.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB4",
"gene_hgnc_id": 9059,
"hgvs_c": "n.1645A>G",
"hgvs_p": null,
"transcript": "ENST00000464199.5",
"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": 5558,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000464199.5"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB4",
"gene_hgnc_id": 9059,
"hgvs_c": "c.1916A>G",
"hgvs_p": "p.Tyr639Cys",
"transcript": "ENST00000946820.1",
"protein_id": "ENSP00000616879.1",
"transcript_support_level": null,
"aa_start": 639,
"aa_end": null,
"aa_length": 1210,
"cds_start": 1916,
"cds_end": null,
"cds_length": 3633,
"cdna_start": 2272,
"cdna_end": null,
"cdna_length": 4356,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946820.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB4",
"gene_hgnc_id": 9059,
"hgvs_c": "c.1904A>G",
"hgvs_p": "p.Tyr635Cys",
"transcript": "ENST00000685298.1",
"protein_id": "ENSP00000509390.1",
"transcript_support_level": null,
"aa_start": 635,
"aa_end": null,
"aa_length": 1209,
"cds_start": 1904,
"cds_end": null,
"cds_length": 3630,
"cdna_start": 2167,
"cdna_end": null,
"cdna_length": 7825,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000685298.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB4",
"gene_hgnc_id": 9059,
"hgvs_c": "c.1904A>G",
"hgvs_p": "p.Tyr635Cys",
"transcript": "NM_001377143.1",
"protein_id": "NP_001364072.1",
"transcript_support_level": null,
"aa_start": 635,
"aa_end": null,
"aa_length": 1206,
"cds_start": 1904,
"cds_end": null,
"cds_length": 3621,
"cdna_start": 2102,
"cdna_end": null,
"cdna_length": 5618,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377143.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB4",
"gene_hgnc_id": 9059,
"hgvs_c": "c.1904A>G",
"hgvs_p": "p.Tyr635Cys",
"transcript": "ENST00000685568.1",
"protein_id": "ENSP00000508726.1",
"transcript_support_level": null,
"aa_start": 635,
"aa_end": null,
"aa_length": 1206,
"cds_start": 1904,
"cds_end": null,
"cds_length": 3621,
"cdna_start": 2056,
"cdna_end": null,
"cdna_length": 5235,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000685568.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB4",
"gene_hgnc_id": 9059,
"hgvs_c": "c.1904A>G",
"hgvs_p": "p.Tyr635Cys",
"transcript": "ENST00000920652.1",
"protein_id": "ENSP00000590711.1",
"transcript_support_level": null,
"aa_start": 635,
"aa_end": null,
"aa_length": 1206,
"cds_start": 1904,
"cds_end": null,
"cds_length": 3621,
"cdna_start": 2449,
"cdna_end": null,
"cdna_length": 5965,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920652.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB4",
"gene_hgnc_id": 9059,
"hgvs_c": "c.1904A>G",
"hgvs_p": "p.Tyr635Cys",
"transcript": "ENST00000946818.1",
"protein_id": "ENSP00000616877.1",
"transcript_support_level": null,
"aa_start": 635,
"aa_end": null,
"aa_length": 1206,
"cds_start": 1904,
"cds_end": null,
"cds_length": 3621,
"cdna_start": 2377,
"cdna_end": null,
"cdna_length": 5890,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946818.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB4",
"gene_hgnc_id": 9059,
"hgvs_c": "c.1904A>G",
"hgvs_p": "p.Tyr635Cys",
"transcript": "ENST00000946821.1",
"protein_id": "ENSP00000616880.1",
"transcript_support_level": null,
"aa_start": 635,
"aa_end": null,
"aa_length": 1206,
"cds_start": 1904,
"cds_end": null,
"cds_length": 3621,
"cdna_start": 2295,
"cdna_end": null,
"cdna_length": 4358,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946821.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB4",
"gene_hgnc_id": 9059,
"hgvs_c": "c.1880A>G",
"hgvs_p": "p.Tyr627Cys",
"transcript": "ENST00000946817.1",
"protein_id": "ENSP00000616876.1",
"transcript_support_level": null,
"aa_start": 627,
"aa_end": null,
"aa_length": 1198,
"cds_start": 1880,
"cds_end": null,
"cds_length": 3597,
"cdna_start": 2233,
"cdna_end": null,
"cdna_length": 5747,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946817.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB4",
"gene_hgnc_id": 9059,
"hgvs_c": "c.1868A>G",
"hgvs_p": "p.Tyr623Cys",
"transcript": "NM_000933.4",
"protein_id": "NP_000924.3",
"transcript_support_level": null,
"aa_start": 623,
"aa_end": null,
"aa_length": 1194,
"cds_start": 1868,
"cds_end": null,
"cds_length": 3585,
"cdna_start": 2122,
"cdna_end": null,
"cdna_length": 5638,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000933.4"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB4",
"gene_hgnc_id": 9059,
"hgvs_c": "c.1868A>G",
"hgvs_p": "p.Tyr623Cys",
"transcript": "NM_001377134.2",
"protein_id": "NP_001364063.1",
"transcript_support_level": null,
"aa_start": 623,
"aa_end": null,
"aa_length": 1194,
"cds_start": 1868,
"cds_end": null,
"cds_length": 3585,
"cdna_start": 2228,
"cdna_end": null,
"cdna_length": 5744,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377134.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB4",
"gene_hgnc_id": 9059,
"hgvs_c": "c.1868A>G",
"hgvs_p": "p.Tyr623Cys",
"transcript": "NM_001377135.1",
"protein_id": "NP_001364064.1",
"transcript_support_level": null,
"aa_start": 623,
"aa_end": null,
"aa_length": 1194,
"cds_start": 1868,
"cds_end": null,
"cds_length": 3585,
"cdna_start": 2066,
"cdna_end": null,
"cdna_length": 5582,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377135.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB4",
"gene_hgnc_id": 9059,
"hgvs_c": "c.1868A>G",
"hgvs_p": "p.Tyr623Cys",
"transcript": "ENST00000378501.3",
"protein_id": "ENSP00000367762.2",
"transcript_support_level": 5,
"aa_start": 623,
"aa_end": null,
"aa_length": 1194,
"cds_start": 1868,
"cds_end": null,
"cds_length": 3585,
"cdna_start": 2059,
"cdna_end": null,
"cdna_length": 6009,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378501.3"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB4",
"gene_hgnc_id": 9059,
"hgvs_c": "c.1868A>G",
"hgvs_p": "p.Tyr623Cys",
"transcript": "ENST00000686313.1",
"protein_id": "ENSP00000508595.1",
"transcript_support_level": null,
"aa_start": 623,
"aa_end": null,
"aa_length": 1194,
"cds_start": 1868,
"cds_end": null,
"cds_length": 3585,
"cdna_start": 2055,
"cdna_end": null,
"cdna_length": 5233,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000686313.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB4",
"gene_hgnc_id": 9059,
"hgvs_c": "c.1868A>G",
"hgvs_p": "p.Tyr623Cys",
"transcript": "ENST00000686871.1",
"protein_id": "ENSP00000510118.1",
"transcript_support_level": null,
"aa_start": 623,
"aa_end": null,
"aa_length": 1194,
"cds_start": 1868,
"cds_end": null,
"cds_length": 3585,
"cdna_start": 2075,
"cdna_end": null,
"cdna_length": 5253,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000686871.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB4",
"gene_hgnc_id": 9059,
"hgvs_c": "c.1868A>G",
"hgvs_p": "p.Tyr623Cys",
"transcript": "ENST00000686976.1",
"protein_id": "ENSP00000508600.1",
"transcript_support_level": null,
"aa_start": 623,
"aa_end": null,
"aa_length": 1194,
"cds_start": 1868,
"cds_end": null,
"cds_length": 3585,
"cdna_start": 2096,
"cdna_end": null,
"cdna_length": 5274,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000686976.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB4",
"gene_hgnc_id": 9059,
"hgvs_c": "c.1868A>G",
"hgvs_p": "p.Tyr623Cys",
"transcript": "ENST00000693752.1",
"protein_id": "ENSP00000508677.1",
"transcript_support_level": null,
"aa_start": 623,
"aa_end": null,
"aa_length": 1194,
"cds_start": 1868,
"cds_end": null,
"cds_length": 3585,
"cdna_start": 2013,
"cdna_end": null,
"cdna_length": 5191,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000693752.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB4",
"gene_hgnc_id": 9059,
"hgvs_c": "c.1868A>G",
"hgvs_p": "p.Tyr623Cys",
"transcript": "ENST00000920653.1",
"protein_id": "ENSP00000590712.1",
"transcript_support_level": null,
"aa_start": 623,
"aa_end": null,
"aa_length": 1194,
"cds_start": 1868,
"cds_end": null,
"cds_length": 3585,
"cdna_start": 2402,
"cdna_end": null,
"cdna_length": 5582,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920653.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCB4",
"gene_hgnc_id": 9059,
"hgvs_c": "c.1868A>G",
"hgvs_p": "p.Tyr623Cys",
"transcript": "ENST00000920654.1",
"protein_id": "ENSP00000590713.1",
"transcript_support_level": null,
"aa_start": 623,
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"hgvs_p": "p.Tyr635Cys"
}
],
"clinvar_disease": "Auriculocondylar syndrome 1,Auriculocondylar syndrome 2",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Auriculocondylar syndrome 2|Auriculocondylar syndrome 1",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}