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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: 10-102139412-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=102139412&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 102139412,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000278070.7",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"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.904A>G",
"hgvs_p": "p.Ile302Val",
"transcript": "NM_015062.5",
"protein_id": "NP_055877.3",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 1664,
"cds_start": 904,
"cds_end": null,
"cds_length": 4995,
"cdna_start": 933,
"cdna_end": null,
"cdna_length": 5328,
"mane_select": "ENST00000278070.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.904A>G",
"hgvs_p": "p.Ile302Val",
"transcript": "ENST00000278070.7",
"protein_id": "ENSP00000278070.2",
"transcript_support_level": 1,
"aa_start": 302,
"aa_end": null,
"aa_length": 1664,
"cds_start": 904,
"cds_end": null,
"cds_length": 4995,
"cdna_start": 933,
"cdna_end": null,
"cdna_length": 5328,
"mane_select": "NM_015062.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.544A>G",
"hgvs_p": "p.Ile182Val",
"transcript": "NM_001288728.2",
"protein_id": "NP_001275657.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 1542,
"cds_start": 544,
"cds_end": null,
"cds_length": 4629,
"cdna_start": 832,
"cdna_end": null,
"cdna_length": 5221,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.904A>G",
"hgvs_p": "p.Ile302Val",
"transcript": "NM_001288727.2",
"protein_id": "NP_001275656.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 1400,
"cds_start": 904,
"cds_end": null,
"cds_length": 4203,
"cdna_start": 933,
"cdna_end": null,
"cdna_length": 4536,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.904A>G",
"hgvs_p": "p.Ile302Val",
"transcript": "ENST00000413464.6",
"protein_id": "ENSP00000399743.2",
"transcript_support_level": 2,
"aa_start": 302,
"aa_end": null,
"aa_length": 1400,
"cds_start": 904,
"cds_end": null,
"cds_length": 4203,
"cdna_start": 979,
"cdna_end": null,
"cdna_length": 4580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.1063A>G",
"hgvs_p": "p.Ile355Val",
"transcript": "XM_024447915.2",
"protein_id": "XP_024303683.2",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 1717,
"cds_start": 1063,
"cds_end": null,
"cds_length": 5154,
"cdna_start": 1092,
"cdna_end": null,
"cdna_length": 5487,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.904A>G",
"hgvs_p": "p.Ile302Val",
"transcript": "XM_017015982.2",
"protein_id": "XP_016871471.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 1662,
"cds_start": 904,
"cds_end": null,
"cds_length": 4989,
"cdna_start": 933,
"cdna_end": null,
"cdna_length": 5322,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.904A>G",
"hgvs_p": "p.Ile302Val",
"transcript": "XM_011539549.3",
"protein_id": "XP_011537851.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 1621,
"cds_start": 904,
"cds_end": null,
"cds_length": 4866,
"cdna_start": 933,
"cdna_end": null,
"cdna_length": 5199,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.904A>G",
"hgvs_p": "p.Ile302Val",
"transcript": "XM_047424876.1",
"protein_id": "XP_047280832.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 1619,
"cds_start": 904,
"cds_end": null,
"cds_length": 4860,
"cdna_start": 933,
"cdna_end": null,
"cdna_length": 5193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.904A>G",
"hgvs_p": "p.Ile302Val",
"transcript": "XM_017015983.2",
"protein_id": "XP_016871472.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 1603,
"cds_start": 904,
"cds_end": null,
"cds_length": 4812,
"cdna_start": 933,
"cdna_end": null,
"cdna_length": 5145,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.904A>G",
"hgvs_p": "p.Ile302Val",
"transcript": "XM_047424877.1",
"protein_id": "XP_047280833.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 1601,
"cds_start": 904,
"cds_end": null,
"cds_length": 4806,
"cdna_start": 933,
"cdna_end": null,
"cdna_length": 5139,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.667A>G",
"hgvs_p": "p.Ile223Val",
"transcript": "XM_024447914.2",
"protein_id": "XP_024303682.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 1585,
"cds_start": 667,
"cds_end": null,
"cds_length": 4758,
"cdna_start": 1711,
"cdna_end": null,
"cdna_length": 6106,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.667A>G",
"hgvs_p": "p.Ile223Val",
"transcript": "XM_024447916.2",
"protein_id": "XP_024303684.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 1585,
"cds_start": 667,
"cds_end": null,
"cds_length": 4758,
"cdna_start": 851,
"cdna_end": null,
"cdna_length": 5246,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.667A>G",
"hgvs_p": "p.Ile223Val",
"transcript": "XM_024447917.2",
"protein_id": "XP_024303685.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 1585,
"cds_start": 667,
"cds_end": null,
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"cdna_start": 954,
"cdna_end": null,
"cdna_length": 5349,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.667A>G",
"hgvs_p": "p.Ile223Val",
"transcript": "XM_047424878.1",
"protein_id": "XP_047280834.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 1585,
"cds_start": 667,
"cds_end": null,
"cds_length": 4758,
"cdna_start": 1332,
"cdna_end": null,
"cdna_length": 5727,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.667A>G",
"hgvs_p": "p.Ile223Val",
"transcript": "XM_047424879.1",
"protein_id": "XP_047280835.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 1585,
"cds_start": 667,
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"cdna_start": 1328,
"cdna_end": null,
"cdna_length": 5723,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.655A>G",
"hgvs_p": "p.Ile219Val",
"transcript": "XM_011539551.3",
"protein_id": "XP_011537853.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 1581,
"cds_start": 655,
"cds_end": null,
"cds_length": 4746,
"cdna_start": 684,
"cdna_end": null,
"cdna_length": 5079,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.655A>G",
"hgvs_p": "p.Ile219Val",
"transcript": "XM_047424880.1",
"protein_id": "XP_047280836.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 1579,
"cds_start": 655,
"cds_end": null,
"cds_length": 4740,
"cdna_start": 684,
"cdna_end": null,
"cdna_length": 5073,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.655A>G",
"hgvs_p": "p.Ile219Val",
"transcript": "XM_047424881.1",
"protein_id": "XP_047280837.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
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"cds_start": 655,
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"cdna_start": 684,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.655A>G",
"hgvs_p": "p.Ile219Val",
"transcript": "XM_047424882.1",
"protein_id": "XP_047280838.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 1520,
"cds_start": 655,
"cds_end": null,
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"cdna_start": 684,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.418A>G",
"hgvs_p": "p.Ile140Val",
"transcript": "XM_047424883.1",
"protein_id": "XP_047280839.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 1502,
"cds_start": 418,
"cds_end": null,
"cds_length": 4509,
"cdna_start": 602,
"cdna_end": null,
"cdna_length": 4997,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"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.418A>G",
"hgvs_p": "p.Ile140Val",
"transcript": "XM_047424884.1",
"protein_id": "XP_047280840.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 1502,
"cds_start": 418,
"cds_end": null,
"cds_length": 4509,
"cdna_start": 582,
"cdna_end": null,
"cdna_length": 4977,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"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,
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],
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"acmg_classification": "Uncertain_significance",
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{
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"criteria": [
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"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000278070.7",
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"effects": [
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],
"inheritance_mode": "",
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],
"clinvar_disease": "Prostate cancer",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Prostate cancer",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}