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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: 15-50481558-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=50481558&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 50481558,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_005154.5",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP8",
"gene_hgnc_id": 12631,
"hgvs_c": "c.1296A>C",
"hgvs_p": "p.Gln432His",
"transcript": "NM_005154.5",
"protein_id": "NP_005145.3",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 1118,
"cds_start": 1296,
"cds_end": null,
"cds_length": 3357,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000307179.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005154.5"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP8",
"gene_hgnc_id": 12631,
"hgvs_c": "c.1296A>C",
"hgvs_p": "p.Gln432His",
"transcript": "ENST00000307179.9",
"protein_id": "ENSP00000302239.4",
"transcript_support_level": 1,
"aa_start": 432,
"aa_end": null,
"aa_length": 1118,
"cds_start": 1296,
"cds_end": null,
"cds_length": 3357,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005154.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000307179.9"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP8",
"gene_hgnc_id": 12631,
"hgvs_c": "c.1296A>C",
"hgvs_p": "p.Gln432His",
"transcript": "ENST00000396444.7",
"protein_id": "ENSP00000379721.3",
"transcript_support_level": 1,
"aa_start": 432,
"aa_end": null,
"aa_length": 1118,
"cds_start": 1296,
"cds_end": null,
"cds_length": 3357,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396444.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP8",
"gene_hgnc_id": 12631,
"hgvs_c": "n.1296A>C",
"hgvs_p": null,
"transcript": "ENST00000559329.5",
"protein_id": "ENSP00000454003.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "non_stop_decay",
"feature": "ENST00000559329.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP8",
"gene_hgnc_id": 12631,
"hgvs_c": "n.*726A>C",
"hgvs_p": null,
"transcript": "ENST00000560730.5",
"protein_id": "ENSP00000452950.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000560730.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP8",
"gene_hgnc_id": 12631,
"hgvs_c": "n.*259A>C",
"hgvs_p": null,
"transcript": "ENST00000561330.1",
"protein_id": "ENSP00000453460.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000561330.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP8",
"gene_hgnc_id": 12631,
"hgvs_c": "n.*726A>C",
"hgvs_p": null,
"transcript": "ENST00000560730.5",
"protein_id": "ENSP00000452950.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000560730.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP8",
"gene_hgnc_id": 12631,
"hgvs_c": "n.*259A>C",
"hgvs_p": null,
"transcript": "ENST00000561330.1",
"protein_id": "ENSP00000453460.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000561330.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP8",
"gene_hgnc_id": 12631,
"hgvs_c": "c.1422A>C",
"hgvs_p": "p.Gln474His",
"transcript": "ENST00000956759.1",
"protein_id": "ENSP00000626818.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 1160,
"cds_start": 1422,
"cds_end": null,
"cds_length": 3483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956759.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP8",
"gene_hgnc_id": 12631,
"hgvs_c": "c.1422A>C",
"hgvs_p": "p.Gln474His",
"transcript": "ENST00000956763.1",
"protein_id": "ENSP00000626822.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 1131,
"cds_start": 1422,
"cds_end": null,
"cds_length": 3396,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956763.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP8",
"gene_hgnc_id": 12631,
"hgvs_c": "c.1296A>C",
"hgvs_p": "p.Gln432His",
"transcript": "NM_001128610.3",
"protein_id": "NP_001122082.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 1118,
"cds_start": 1296,
"cds_end": null,
"cds_length": 3357,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001128610.3"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP8",
"gene_hgnc_id": 12631,
"hgvs_c": "c.1296A>C",
"hgvs_p": "p.Gln432His",
"transcript": "ENST00000919051.1",
"protein_id": "ENSP00000589110.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 1118,
"cds_start": 1296,
"cds_end": null,
"cds_length": 3357,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919051.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP8",
"gene_hgnc_id": 12631,
"hgvs_c": "c.1296A>C",
"hgvs_p": "p.Gln432His",
"transcript": "ENST00000919052.1",
"protein_id": "ENSP00000589111.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 1118,
"cds_start": 1296,
"cds_end": null,
"cds_length": 3357,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919052.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP8",
"gene_hgnc_id": 12631,
"hgvs_c": "c.1293A>C",
"hgvs_p": "p.Gln431His",
"transcript": "ENST00000919048.1",
"protein_id": "ENSP00000589107.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 1117,
"cds_start": 1293,
"cds_end": null,
"cds_length": 3354,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919048.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP8",
"gene_hgnc_id": 12631,
"hgvs_c": "c.1293A>C",
"hgvs_p": "p.Gln431His",
"transcript": "ENST00000919050.1",
"protein_id": "ENSP00000589109.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 1117,
"cds_start": 1293,
"cds_end": null,
"cds_length": 3354,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919050.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP8",
"gene_hgnc_id": 12631,
"hgvs_c": "c.1215A>C",
"hgvs_p": "p.Gln405His",
"transcript": "ENST00000882495.1",
"protein_id": "ENSP00000552554.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 1091,
"cds_start": 1215,
"cds_end": null,
"cds_length": 3276,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882495.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP8",
"gene_hgnc_id": 12631,
"hgvs_c": "c.1293A>C",
"hgvs_p": "p.Gln431His",
"transcript": "ENST00000919049.1",
"protein_id": "ENSP00000589108.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 1088,
"cds_start": 1293,
"cds_end": null,
"cds_length": 3267,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919049.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP8",
"gene_hgnc_id": 12631,
"hgvs_c": "c.1293A>C",
"hgvs_p": "p.Gln431His",
"transcript": "ENST00000956762.1",
"protein_id": "ENSP00000626821.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 1088,
"cds_start": 1293,
"cds_end": null,
"cds_length": 3267,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956762.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP8",
"gene_hgnc_id": 12631,
"hgvs_c": "c.1065A>C",
"hgvs_p": "p.Gln355His",
"transcript": "ENST00000919053.1",
"protein_id": "ENSP00000589112.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 1041,
"cds_start": 1065,
"cds_end": null,
"cds_length": 3126,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919053.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP8",
"gene_hgnc_id": 12631,
"hgvs_c": "c.1065A>C",
"hgvs_p": "p.Gln355His",
"transcript": "ENST00000956760.1",
"protein_id": "ENSP00000626819.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 1041,
"cds_start": 1065,
"cds_end": null,
"cds_length": 3126,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956760.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP8",
"gene_hgnc_id": 12631,
"hgvs_c": "c.1047A>C",
"hgvs_p": "p.Gln349His",
"transcript": "ENST00000956757.1",
"protein_id": "ENSP00000626816.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 1035,
"cds_start": 1047,
"cds_end": null,
"cds_length": 3108,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956757.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP8",
"gene_hgnc_id": 12631,
"hgvs_c": "c.1065A>C",
"hgvs_p": "p.Gln355His",
"transcript": "NM_001283049.2",
"protein_id": "NP_001269978.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 1012,
"cds_start": 1065,
"cds_end": null,
"cds_length": 3039,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
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{
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"BP4_Strong"
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"verdict": "Likely_benign",
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],
"clinvar_disease": "",
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"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}