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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: 10-102140114-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=102140114&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 102140114,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000278070.7",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPRC1",
"gene_hgnc_id": 30025,
"hgvs_c": "c.1606A>G",
"hgvs_p": "p.Ser536Gly",
"transcript": "NM_015062.5",
"protein_id": "NP_055877.3",
"transcript_support_level": null,
"aa_start": 536,
"aa_end": null,
"aa_length": 1664,
"cds_start": 1606,
"cds_end": null,
"cds_length": 4995,
"cdna_start": 1635,
"cdna_end": null,
"cdna_length": 5328,
"mane_select": "ENST00000278070.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPRC1",
"gene_hgnc_id": 30025,
"hgvs_c": "c.1606A>G",
"hgvs_p": "p.Ser536Gly",
"transcript": "ENST00000278070.7",
"protein_id": "ENSP00000278070.2",
"transcript_support_level": 1,
"aa_start": 536,
"aa_end": null,
"aa_length": 1664,
"cds_start": 1606,
"cds_end": null,
"cds_length": 4995,
"cdna_start": 1635,
"cdna_end": null,
"cdna_length": 5328,
"mane_select": "NM_015062.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPRC1",
"gene_hgnc_id": 30025,
"hgvs_c": "c.1246A>G",
"hgvs_p": "p.Ser416Gly",
"transcript": "NM_001288728.2",
"protein_id": "NP_001275657.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 1542,
"cds_start": 1246,
"cds_end": null,
"cds_length": 4629,
"cdna_start": 1534,
"cdna_end": null,
"cdna_length": 5221,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPRC1",
"gene_hgnc_id": 30025,
"hgvs_c": "c.1606A>G",
"hgvs_p": "p.Ser536Gly",
"transcript": "NM_001288727.2",
"protein_id": "NP_001275656.1",
"transcript_support_level": null,
"aa_start": 536,
"aa_end": null,
"aa_length": 1400,
"cds_start": 1606,
"cds_end": null,
"cds_length": 4203,
"cdna_start": 1635,
"cdna_end": null,
"cdna_length": 4536,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPRC1",
"gene_hgnc_id": 30025,
"hgvs_c": "c.1606A>G",
"hgvs_p": "p.Ser536Gly",
"transcript": "ENST00000413464.6",
"protein_id": "ENSP00000399743.2",
"transcript_support_level": 2,
"aa_start": 536,
"aa_end": null,
"aa_length": 1400,
"cds_start": 1606,
"cds_end": null,
"cds_length": 4203,
"cdna_start": 1681,
"cdna_end": null,
"cdna_length": 4580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPRC1",
"gene_hgnc_id": 30025,
"hgvs_c": "c.1765A>G",
"hgvs_p": "p.Ser589Gly",
"transcript": "XM_024447915.2",
"protein_id": "XP_024303683.2",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 1717,
"cds_start": 1765,
"cds_end": null,
"cds_length": 5154,
"cdna_start": 1794,
"cdna_end": null,
"cdna_length": 5487,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPRC1",
"gene_hgnc_id": 30025,
"hgvs_c": "c.1606A>G",
"hgvs_p": "p.Ser536Gly",
"transcript": "XM_017015982.2",
"protein_id": "XP_016871471.1",
"transcript_support_level": null,
"aa_start": 536,
"aa_end": null,
"aa_length": 1662,
"cds_start": 1606,
"cds_end": null,
"cds_length": 4989,
"cdna_start": 1635,
"cdna_end": null,
"cdna_length": 5322,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPRC1",
"gene_hgnc_id": 30025,
"hgvs_c": "c.1606A>G",
"hgvs_p": "p.Ser536Gly",
"transcript": "XM_011539549.3",
"protein_id": "XP_011537851.1",
"transcript_support_level": null,
"aa_start": 536,
"aa_end": null,
"aa_length": 1621,
"cds_start": 1606,
"cds_end": null,
"cds_length": 4866,
"cdna_start": 1635,
"cdna_end": null,
"cdna_length": 5199,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPRC1",
"gene_hgnc_id": 30025,
"hgvs_c": "c.1606A>G",
"hgvs_p": "p.Ser536Gly",
"transcript": "XM_047424876.1",
"protein_id": "XP_047280832.1",
"transcript_support_level": null,
"aa_start": 536,
"aa_end": null,
"aa_length": 1619,
"cds_start": 1606,
"cds_end": null,
"cds_length": 4860,
"cdna_start": 1635,
"cdna_end": null,
"cdna_length": 5193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPRC1",
"gene_hgnc_id": 30025,
"hgvs_c": "c.1606A>G",
"hgvs_p": "p.Ser536Gly",
"transcript": "XM_017015983.2",
"protein_id": "XP_016871472.1",
"transcript_support_level": null,
"aa_start": 536,
"aa_end": null,
"aa_length": 1603,
"cds_start": 1606,
"cds_end": null,
"cds_length": 4812,
"cdna_start": 1635,
"cdna_end": null,
"cdna_length": 5145,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPRC1",
"gene_hgnc_id": 30025,
"hgvs_c": "c.1606A>G",
"hgvs_p": "p.Ser536Gly",
"transcript": "XM_047424877.1",
"protein_id": "XP_047280833.1",
"transcript_support_level": null,
"aa_start": 536,
"aa_end": null,
"aa_length": 1601,
"cds_start": 1606,
"cds_end": null,
"cds_length": 4806,
"cdna_start": 1635,
"cdna_end": null,
"cdna_length": 5139,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPRC1",
"gene_hgnc_id": 30025,
"hgvs_c": "c.1369A>G",
"hgvs_p": "p.Ser457Gly",
"transcript": "XM_024447914.2",
"protein_id": "XP_024303682.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 1585,
"cds_start": 1369,
"cds_end": null,
"cds_length": 4758,
"cdna_start": 2413,
"cdna_end": null,
"cdna_length": 6106,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPRC1",
"gene_hgnc_id": 30025,
"hgvs_c": "c.1369A>G",
"hgvs_p": "p.Ser457Gly",
"transcript": "XM_024447916.2",
"protein_id": "XP_024303684.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 1585,
"cds_start": 1369,
"cds_end": null,
"cds_length": 4758,
"cdna_start": 1553,
"cdna_end": null,
"cdna_length": 5246,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPRC1",
"gene_hgnc_id": 30025,
"hgvs_c": "c.1369A>G",
"hgvs_p": "p.Ser457Gly",
"transcript": "XM_024447917.2",
"protein_id": "XP_024303685.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 1585,
"cds_start": 1369,
"cds_end": null,
"cds_length": 4758,
"cdna_start": 1656,
"cdna_end": null,
"cdna_length": 5349,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPRC1",
"gene_hgnc_id": 30025,
"hgvs_c": "c.1369A>G",
"hgvs_p": "p.Ser457Gly",
"transcript": "XM_047424878.1",
"protein_id": "XP_047280834.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 1585,
"cds_start": 1369,
"cds_end": null,
"cds_length": 4758,
"cdna_start": 2034,
"cdna_end": null,
"cdna_length": 5727,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPRC1",
"gene_hgnc_id": 30025,
"hgvs_c": "c.1369A>G",
"hgvs_p": "p.Ser457Gly",
"transcript": "XM_047424879.1",
"protein_id": "XP_047280835.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 1585,
"cds_start": 1369,
"cds_end": null,
"cds_length": 4758,
"cdna_start": 2030,
"cdna_end": null,
"cdna_length": 5723,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPRC1",
"gene_hgnc_id": 30025,
"hgvs_c": "c.1357A>G",
"hgvs_p": "p.Ser453Gly",
"transcript": "XM_011539551.3",
"protein_id": "XP_011537853.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 1581,
"cds_start": 1357,
"cds_end": null,
"cds_length": 4746,
"cdna_start": 1386,
"cdna_end": null,
"cdna_length": 5079,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPRC1",
"gene_hgnc_id": 30025,
"hgvs_c": "c.1357A>G",
"hgvs_p": "p.Ser453Gly",
"transcript": "XM_047424880.1",
"protein_id": "XP_047280836.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 1579,
"cds_start": 1357,
"cds_end": null,
"cds_length": 4740,
"cdna_start": 1386,
"cdna_end": null,
"cdna_length": 5073,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"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": "PPRC1",
"gene_hgnc_id": 30025,
"hgvs_c": "c.1357A>G",
"hgvs_p": "p.Ser453Gly",
"transcript": "XM_047424881.1",
"protein_id": "XP_047280837.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 1538,
"cds_start": 1357,
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"cds_length": 4617,
"cdna_start": 1386,
"cdna_end": null,
"cdna_length": 4950,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPRC1",
"gene_hgnc_id": 30025,
"hgvs_c": "c.1357A>G",
"hgvs_p": "p.Ser453Gly",
"transcript": "XM_047424882.1",
"protein_id": "XP_047280838.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 1520,
"cds_start": 1357,
"cds_end": null,
"cds_length": 4563,
"cdna_start": 1386,
"cdna_end": null,
"cdna_length": 4896,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPRC1",
"gene_hgnc_id": 30025,
"hgvs_c": "c.1120A>G",
"hgvs_p": "p.Ser374Gly",
"transcript": "XM_047424883.1",
"protein_id": "XP_047280839.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 1502,
"cds_start": 1120,
"cds_end": null,
"cds_length": 4509,
"cdna_start": 1304,
"cdna_end": null,
"cdna_length": 4997,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPRC1",
"gene_hgnc_id": 30025,
"hgvs_c": "c.1120A>G",
"hgvs_p": "p.Ser374Gly",
"transcript": "XM_047424884.1",
"protein_id": "XP_047280840.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 1502,
"cds_start": 1120,
"cds_end": null,
"cds_length": 4509,
"cdna_start": 1284,
"cdna_end": null,
"cdna_length": 4977,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPRC1",
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],
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"computational_prediction_selected": "Benign",
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"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
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"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"acmg_classification": "Benign",
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"acmg_by_gene": [
{
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"criteria": [
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"BP6",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000278070.7",
"gene_symbol": "PPRC1",
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"effects": [
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],
"inheritance_mode": "",
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}
],
"clinvar_disease": "PPRC1-related disorder",
"clinvar_classification": "Benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "PPRC1-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}