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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: X-134829262-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=134829262&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 134829262,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001388447.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"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": "PABIR3",
"gene_hgnc_id": 25202,
"hgvs_c": "c.226C>T",
"hgvs_p": "p.Arg76Cys",
"transcript": "NM_001388447.1",
"protein_id": "NP_001375376.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 270,
"cds_start": 226,
"cds_end": null,
"cds_length": 813,
"cdna_start": 390,
"cdna_end": null,
"cdna_length": 1592,
"mane_select": "ENST00000645433.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"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": "PABIR3",
"gene_hgnc_id": 25202,
"hgvs_c": "c.226C>T",
"hgvs_p": "p.Arg76Cys",
"transcript": "ENST00000645433.2",
"protein_id": "ENSP00000496338.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 270,
"cds_start": 226,
"cds_end": null,
"cds_length": 813,
"cdna_start": 390,
"cdna_end": null,
"cdna_length": 1592,
"mane_select": "NM_001388447.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR3",
"gene_hgnc_id": 25202,
"hgvs_c": "c.226C>T",
"hgvs_p": "p.Arg76Cys",
"transcript": "ENST00000370784.8",
"protein_id": "ENSP00000359820.4",
"transcript_support_level": 1,
"aa_start": 76,
"aa_end": null,
"aa_length": 195,
"cds_start": 226,
"cds_end": null,
"cds_length": 588,
"cdna_start": 632,
"cdna_end": null,
"cdna_length": 1368,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR3",
"gene_hgnc_id": 25202,
"hgvs_c": "c.226C>T",
"hgvs_p": "p.Arg76Cys",
"transcript": "ENST00000370785.4",
"protein_id": "ENSP00000359821.3",
"transcript_support_level": 1,
"aa_start": 76,
"aa_end": null,
"aa_length": 152,
"cds_start": 226,
"cds_end": null,
"cds_length": 459,
"cdna_start": 631,
"cdna_end": null,
"cdna_length": 1344,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"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": "PABIR3",
"gene_hgnc_id": 25202,
"hgvs_c": "c.226C>T",
"hgvs_p": "p.Arg76Cys",
"transcript": "NM_001388448.1",
"protein_id": "NP_001375377.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 269,
"cds_start": 226,
"cds_end": null,
"cds_length": 810,
"cdna_start": 588,
"cdna_end": null,
"cdna_length": 1787,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR3",
"gene_hgnc_id": 25202,
"hgvs_c": "c.226C>T",
"hgvs_p": "p.Arg76Cys",
"transcript": "NM_001365748.2",
"protein_id": "NP_001352677.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 217,
"cds_start": 226,
"cds_end": null,
"cds_length": 654,
"cdna_start": 588,
"cdna_end": null,
"cdna_length": 1631,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR3",
"gene_hgnc_id": 25202,
"hgvs_c": "c.226C>T",
"hgvs_p": "p.Arg76Cys",
"transcript": "ENST00000643150.1",
"protein_id": "ENSP00000495073.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 217,
"cds_start": 226,
"cds_end": null,
"cds_length": 654,
"cdna_start": 544,
"cdna_end": null,
"cdna_length": 1346,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR3",
"gene_hgnc_id": 25202,
"hgvs_c": "c.226C>T",
"hgvs_p": "p.Arg76Cys",
"transcript": "NM_001170779.3",
"protein_id": "NP_001164250.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 195,
"cds_start": 226,
"cds_end": null,
"cds_length": 588,
"cdna_start": 588,
"cdna_end": null,
"cdna_length": 1546,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR3",
"gene_hgnc_id": 25202,
"hgvs_c": "c.226C>T",
"hgvs_p": "p.Arg76Cys",
"transcript": "NM_001388440.1",
"protein_id": "NP_001375369.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 195,
"cds_start": 226,
"cds_end": null,
"cds_length": 588,
"cdna_start": 390,
"cdna_end": null,
"cdna_length": 1348,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR3",
"gene_hgnc_id": 25202,
"hgvs_c": "c.226C>T",
"hgvs_p": "p.Arg76Cys",
"transcript": "NM_138819.5",
"protein_id": "NP_620174.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 152,
"cds_start": 226,
"cds_end": null,
"cds_length": 459,
"cdna_start": 588,
"cdna_end": null,
"cdna_length": 1542,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR3",
"gene_hgnc_id": 25202,
"hgvs_c": "c.226C>T",
"hgvs_p": "p.Arg76Cys",
"transcript": "NM_001388449.1",
"protein_id": "NP_001375378.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 150,
"cds_start": 226,
"cds_end": null,
"cds_length": 453,
"cdna_start": 390,
"cdna_end": null,
"cdna_length": 1027,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR3",
"gene_hgnc_id": 25202,
"hgvs_c": "c.334C>T",
"hgvs_p": "p.Arg112Cys",
"transcript": "NM_001365744.3",
"protein_id": "NP_001352673.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 131,
"cds_start": 334,
"cds_end": null,
"cds_length": 396,
"cdna_start": 515,
"cdna_end": null,
"cdna_length": 780,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR3",
"gene_hgnc_id": 25202,
"hgvs_c": "c.334C>T",
"hgvs_p": "p.Arg112Cys",
"transcript": "NM_001388446.1",
"protein_id": "NP_001375375.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 131,
"cds_start": 334,
"cds_end": null,
"cds_length": 396,
"cdna_start": 588,
"cdna_end": null,
"cdna_length": 853,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR3",
"gene_hgnc_id": 25202,
"hgvs_c": "c.226C>T",
"hgvs_p": "p.Arg76Cys",
"transcript": "NM_001365745.2",
"protein_id": "NP_001352674.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 121,
"cds_start": 226,
"cds_end": null,
"cds_length": 366,
"cdna_start": 588,
"cdna_end": null,
"cdna_length": 1449,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR3",
"gene_hgnc_id": 25202,
"hgvs_c": "c.226C>T",
"hgvs_p": "p.Arg76Cys",
"transcript": "ENST00000646004.1",
"protein_id": "ENSP00000493672.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 121,
"cds_start": 226,
"cds_end": null,
"cds_length": 366,
"cdna_start": 656,
"cdna_end": null,
"cdna_length": 1520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR3",
"gene_hgnc_id": 25202,
"hgvs_c": "c.226C>T",
"hgvs_p": "p.Arg76Cys",
"transcript": "NM_001365747.2",
"protein_id": "NP_001352676.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 95,
"cds_start": 226,
"cds_end": null,
"cds_length": 288,
"cdna_start": 390,
"cdna_end": null,
"cdna_length": 655,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"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": "PABIR3",
"gene_hgnc_id": 25202,
"hgvs_c": "c.334C>T",
"hgvs_p": "p.Arg112Cys",
"transcript": "XM_005262382.2",
"protein_id": "XP_005262439.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 306,
"cds_start": 334,
"cds_end": null,
"cds_length": 921,
"cdna_start": 519,
"cdna_end": null,
"cdna_length": 1721,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"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": "PABIR3",
"gene_hgnc_id": 25202,
"hgvs_c": "c.334C>T",
"hgvs_p": "p.Arg112Cys",
"transcript": "XM_011531295.2",
"protein_id": "XP_011529597.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 305,
"cds_start": 334,
"cds_end": null,
"cds_length": 918,
"cdna_start": 519,
"cdna_end": null,
"cdna_length": 1718,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"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": "PABIR3",
"gene_hgnc_id": 25202,
"hgvs_c": "c.334C>T",
"hgvs_p": "p.Arg112Cys",
"transcript": "XM_011531296.3",
"protein_id": "XP_011529598.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 280,
"cds_start": 334,
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"cdna_start": 519,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR3",
"gene_hgnc_id": 25202,
"hgvs_c": "c.334C>T",
"hgvs_p": "p.Arg112Cys",
"transcript": "XM_047441877.1",
"protein_id": "XP_047297833.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 262,
"cds_start": 334,
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"cds_length": 789,
"cdna_start": 519,
"cdna_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR3",
"gene_hgnc_id": 25202,
"hgvs_c": "c.334C>T",
"hgvs_p": "p.Arg112Cys",
"transcript": "XM_047441878.1",
"protein_id": "XP_047297834.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 253,
"cds_start": 334,
"cds_end": null,
"cds_length": 762,
"cdna_start": 519,
"cdna_end": null,
"cdna_length": 1562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR3",
"gene_hgnc_id": 25202,
"hgvs_c": "c.334C>T",
"hgvs_p": "p.Arg112Cys",
"transcript": "XM_024452343.2",
"protein_id": "XP_024308111.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 252,
"cds_start": 334,
"cds_end": null,
"cds_length": 759,
"cdna_start": 519,
"cdna_end": null,
"cdna_length": 1559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR3",
"gene_hgnc_id": 25202,
"hgvs_c": "c.334C>T",
"hgvs_p": "p.Arg112Cys",
"transcript": "XM_005262383.3",
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}