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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: 17-8377659-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=8377659&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 8377659,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_000987.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26",
"gene_hgnc_id": 10327,
"hgvs_c": "c.343C>G",
"hgvs_p": "p.Arg115Gly",
"transcript": "NM_000987.5",
"protein_id": "NP_000978.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 145,
"cds_start": 343,
"cds_end": null,
"cds_length": 438,
"cdna_start": 385,
"cdna_end": null,
"cdna_length": 528,
"mane_select": "ENST00000648839.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000987.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26",
"gene_hgnc_id": 10327,
"hgvs_c": "c.343C>G",
"hgvs_p": "p.Arg115Gly",
"transcript": "ENST00000648839.1",
"protein_id": "ENSP00000498177.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 145,
"cds_start": 343,
"cds_end": null,
"cds_length": 438,
"cdna_start": 385,
"cdna_end": null,
"cdna_length": 528,
"mane_select": "NM_000987.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648839.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000263809",
"gene_hgnc_id": null,
"hgvs_c": "n.310-1555C>G",
"hgvs_p": null,
"transcript": "ENST00000582471.1",
"protein_id": "ENSP00000463847.1",
"transcript_support_level": 5,
"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": 3087,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000582471.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26",
"gene_hgnc_id": 10327,
"hgvs_c": "c.367C>G",
"hgvs_p": "p.Arg123Gly",
"transcript": "ENST00000913691.1",
"protein_id": "ENSP00000583750.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 153,
"cds_start": 367,
"cds_end": null,
"cds_length": 462,
"cdna_start": 409,
"cdna_end": null,
"cdna_length": 549,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913691.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26",
"gene_hgnc_id": 10327,
"hgvs_c": "c.367C>G",
"hgvs_p": "p.Arg123Gly",
"transcript": "ENST00000913696.1",
"protein_id": "ENSP00000583755.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 153,
"cds_start": 367,
"cds_end": null,
"cds_length": 462,
"cdna_start": 409,
"cdna_end": null,
"cdna_length": 545,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913696.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26",
"gene_hgnc_id": 10327,
"hgvs_c": "c.349C>G",
"hgvs_p": "p.Arg117Gly",
"transcript": "ENST00000913688.1",
"protein_id": "ENSP00000583747.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 147,
"cds_start": 349,
"cds_end": null,
"cds_length": 444,
"cdna_start": 425,
"cdna_end": null,
"cdna_length": 565,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913688.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26",
"gene_hgnc_id": 10327,
"hgvs_c": "c.343C>G",
"hgvs_p": "p.Arg115Gly",
"transcript": "NM_001315530.2",
"protein_id": "NP_001302459.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 145,
"cds_start": 343,
"cds_end": null,
"cds_length": 438,
"cdna_start": 761,
"cdna_end": null,
"cdna_length": 904,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001315530.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26",
"gene_hgnc_id": 10327,
"hgvs_c": "c.343C>G",
"hgvs_p": "p.Arg115Gly",
"transcript": "NM_001315531.2",
"protein_id": "NP_001302460.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 145,
"cds_start": 343,
"cds_end": null,
"cds_length": 438,
"cdna_start": 680,
"cdna_end": null,
"cdna_length": 823,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001315531.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26",
"gene_hgnc_id": 10327,
"hgvs_c": "c.343C>G",
"hgvs_p": "p.Arg115Gly",
"transcript": "ENST00000582556.5",
"protein_id": "ENSP00000463470.1",
"transcript_support_level": 2,
"aa_start": 115,
"aa_end": null,
"aa_length": 145,
"cds_start": 343,
"cds_end": null,
"cds_length": 438,
"cdna_start": 653,
"cdna_end": null,
"cdna_length": 763,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000582556.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26",
"gene_hgnc_id": 10327,
"hgvs_c": "c.343C>G",
"hgvs_p": "p.Arg115Gly",
"transcript": "ENST00000583011.6",
"protein_id": "ENSP00000462322.1",
"transcript_support_level": 3,
"aa_start": 115,
"aa_end": null,
"aa_length": 145,
"cds_start": 343,
"cds_end": null,
"cds_length": 438,
"cdna_start": 428,
"cdna_end": null,
"cdna_length": 564,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000583011.6"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26",
"gene_hgnc_id": 10327,
"hgvs_c": "c.343C>G",
"hgvs_p": "p.Arg115Gly",
"transcript": "ENST00000584164.6",
"protein_id": "ENSP00000463784.1",
"transcript_support_level": 2,
"aa_start": 115,
"aa_end": null,
"aa_length": 145,
"cds_start": 343,
"cds_end": null,
"cds_length": 438,
"cdna_start": 732,
"cdna_end": null,
"cdna_length": 870,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000584164.6"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26",
"gene_hgnc_id": 10327,
"hgvs_c": "c.343C>G",
"hgvs_p": "p.Arg115Gly",
"transcript": "ENST00000851389.1",
"protein_id": "ENSP00000521448.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 145,
"cds_start": 343,
"cds_end": null,
"cds_length": 438,
"cdna_start": 755,
"cdna_end": null,
"cdna_length": 884,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851389.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26",
"gene_hgnc_id": 10327,
"hgvs_c": "c.343C>G",
"hgvs_p": "p.Arg115Gly",
"transcript": "ENST00000851390.1",
"protein_id": "ENSP00000521449.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 145,
"cds_start": 343,
"cds_end": null,
"cds_length": 438,
"cdna_start": 878,
"cdna_end": null,
"cdna_length": 1007,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851390.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26",
"gene_hgnc_id": 10327,
"hgvs_c": "c.343C>G",
"hgvs_p": "p.Arg115Gly",
"transcript": "ENST00000851392.1",
"protein_id": "ENSP00000521451.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 145,
"cds_start": 343,
"cds_end": null,
"cds_length": 438,
"cdna_start": 522,
"cdna_end": null,
"cdna_length": 651,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851392.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26",
"gene_hgnc_id": 10327,
"hgvs_c": "c.343C>G",
"hgvs_p": "p.Arg115Gly",
"transcript": "ENST00000851394.1",
"protein_id": "ENSP00000521453.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 145,
"cds_start": 343,
"cds_end": null,
"cds_length": 438,
"cdna_start": 753,
"cdna_end": null,
"cdna_length": 882,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851394.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26",
"gene_hgnc_id": 10327,
"hgvs_c": "c.343C>G",
"hgvs_p": "p.Arg115Gly",
"transcript": "ENST00000913690.1",
"protein_id": "ENSP00000583749.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 145,
"cds_start": 343,
"cds_end": null,
"cds_length": 438,
"cdna_start": 635,
"cdna_end": null,
"cdna_length": 773,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913690.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26",
"gene_hgnc_id": 10327,
"hgvs_c": "c.343C>G",
"hgvs_p": "p.Arg115Gly",
"transcript": "ENST00000913692.1",
"protein_id": "ENSP00000583751.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 145,
"cds_start": 343,
"cds_end": null,
"cds_length": 438,
"cdna_start": 434,
"cdna_end": null,
"cdna_length": 572,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913692.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26",
"gene_hgnc_id": 10327,
"hgvs_c": "c.343C>G",
"hgvs_p": "p.Arg115Gly",
"transcript": "ENST00000913697.1",
"protein_id": "ENSP00000583756.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 145,
"cds_start": 343,
"cds_end": null,
"cds_length": 438,
"cdna_start": 406,
"cdna_end": null,
"cdna_length": 542,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913697.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26",
"gene_hgnc_id": 10327,
"hgvs_c": "c.343C>G",
"hgvs_p": "p.Arg115Gly",
"transcript": "ENST00000913699.1",
"protein_id": "ENSP00000583758.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 145,
"cds_start": 343,
"cds_end": null,
"cds_length": 438,
"cdna_start": 456,
"cdna_end": null,
"cdna_length": 592,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913699.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26",
"gene_hgnc_id": 10327,
"hgvs_c": "c.343C>G",
"hgvs_p": "p.Arg115Gly",
"transcript": "ENST00000913702.1",
"protein_id": "ENSP00000583761.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 145,
"cds_start": 343,
"cds_end": null,
"cds_length": 438,
"cdna_start": 877,
"cdna_end": null,
"cdna_length": 1016,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913702.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26",
"gene_hgnc_id": 10327,
"hgvs_c": "c.343C>G",
"hgvs_p": "p.Arg115Gly",
"transcript": "ENST00000913703.1",
"protein_id": "ENSP00000583762.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 145,
"cds_start": 343,
"cds_end": null,
"cds_length": 438,
"cdna_start": 609,
"cdna_end": null,
"cdna_length": 749,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913703.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26",
"gene_hgnc_id": 10327,
"hgvs_c": "c.343C>G",
"hgvs_p": "p.Arg115Gly",
"transcript": "ENST00000913704.1",
"protein_id": "ENSP00000583763.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 145,
"cds_start": 343,
"cds_end": null,
"cds_length": 438,
"cdna_start": 640,
"cdna_end": null,
"cdna_length": 780,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913704.1"
},
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{
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"verdict": "Uncertain_significance",
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{
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
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"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}