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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: 3-131029871-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=131029871&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 131029871,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001321221.2",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK11",
"gene_hgnc_id": 18593,
"hgvs_c": "c.163G>C",
"hgvs_p": "p.Glu55Gln",
"transcript": "NM_024800.5",
"protein_id": "NP_079076.3",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 645,
"cds_start": 163,
"cds_end": null,
"cds_length": 1938,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000383366.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024800.5"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK11",
"gene_hgnc_id": 18593,
"hgvs_c": "c.163G>C",
"hgvs_p": "p.Glu55Gln",
"transcript": "ENST00000383366.9",
"protein_id": "ENSP00000372857.4",
"transcript_support_level": 1,
"aa_start": 55,
"aa_end": null,
"aa_length": 645,
"cds_start": 163,
"cds_end": null,
"cds_length": 1938,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024800.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000383366.9"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK11",
"gene_hgnc_id": 18593,
"hgvs_c": "c.163G>C",
"hgvs_p": "p.Glu55Gln",
"transcript": "ENST00000510688.5",
"protein_id": "ENSP00000423458.1",
"transcript_support_level": 1,
"aa_start": 55,
"aa_end": null,
"aa_length": 599,
"cds_start": 163,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000510688.5"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK11",
"gene_hgnc_id": 18593,
"hgvs_c": "c.163G>C",
"hgvs_p": "p.Glu55Gln",
"transcript": "ENST00000507910.5",
"protein_id": "ENSP00000426662.1",
"transcript_support_level": 1,
"aa_start": 55,
"aa_end": null,
"aa_length": 482,
"cds_start": 163,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000507910.5"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK11",
"gene_hgnc_id": 18593,
"hgvs_c": "c.163G>C",
"hgvs_p": "p.Glu55Gln",
"transcript": "ENST00000511262.5",
"protein_id": "ENSP00000425114.1",
"transcript_support_level": 1,
"aa_start": 55,
"aa_end": null,
"aa_length": 470,
"cds_start": 163,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000511262.5"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK11",
"gene_hgnc_id": 18593,
"hgvs_c": "c.163G>C",
"hgvs_p": "p.Glu55Gln",
"transcript": "ENST00000972131.1",
"protein_id": "ENSP00000642190.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 705,
"cds_start": 163,
"cds_end": null,
"cds_length": 2118,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972131.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK11",
"gene_hgnc_id": 18593,
"hgvs_c": "c.163G>C",
"hgvs_p": "p.Glu55Gln",
"transcript": "NM_001321221.2",
"protein_id": "NP_001308150.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 687,
"cds_start": 163,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321221.2"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK11",
"gene_hgnc_id": 18593,
"hgvs_c": "c.163G>C",
"hgvs_p": "p.Glu55Gln",
"transcript": "NM_001353022.2",
"protein_id": "NP_001339951.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 687,
"cds_start": 163,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353022.2"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK11",
"gene_hgnc_id": 18593,
"hgvs_c": "c.163G>C",
"hgvs_p": "p.Glu55Gln",
"transcript": "ENST00000851275.1",
"protein_id": "ENSP00000521334.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 687,
"cds_start": 163,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851275.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK11",
"gene_hgnc_id": 18593,
"hgvs_c": "c.163G>C",
"hgvs_p": "p.Glu55Gln",
"transcript": "ENST00000851276.1",
"protein_id": "ENSP00000521335.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 687,
"cds_start": 163,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851276.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK11",
"gene_hgnc_id": 18593,
"hgvs_c": "c.163G>C",
"hgvs_p": "p.Glu55Gln",
"transcript": "ENST00000972124.1",
"protein_id": "ENSP00000642183.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 686,
"cds_start": 163,
"cds_end": null,
"cds_length": 2061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972124.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK11",
"gene_hgnc_id": 18593,
"hgvs_c": "c.163G>C",
"hgvs_p": "p.Glu55Gln",
"transcript": "NM_001321220.2",
"protein_id": "NP_001308149.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 645,
"cds_start": 163,
"cds_end": null,
"cds_length": 1938,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321220.2"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK11",
"gene_hgnc_id": 18593,
"hgvs_c": "c.163G>C",
"hgvs_p": "p.Glu55Gln",
"transcript": "NM_001353023.2",
"protein_id": "NP_001339952.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 645,
"cds_start": 163,
"cds_end": null,
"cds_length": 1938,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353023.2"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK11",
"gene_hgnc_id": 18593,
"hgvs_c": "c.163G>C",
"hgvs_p": "p.Glu55Gln",
"transcript": "ENST00000508196.5",
"protein_id": "ENSP00000421851.1",
"transcript_support_level": 2,
"aa_start": 55,
"aa_end": null,
"aa_length": 645,
"cds_start": 163,
"cds_end": null,
"cds_length": 1938,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000508196.5"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK11",
"gene_hgnc_id": 18593,
"hgvs_c": "c.163G>C",
"hgvs_p": "p.Glu55Gln",
"transcript": "NM_001353024.2",
"protein_id": "NP_001339953.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 644,
"cds_start": 163,
"cds_end": null,
"cds_length": 1935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353024.2"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK11",
"gene_hgnc_id": 18593,
"hgvs_c": "c.163G>C",
"hgvs_p": "p.Glu55Gln",
"transcript": "NM_001353025.2",
"protein_id": "NP_001339954.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 644,
"cds_start": 163,
"cds_end": null,
"cds_length": 1935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353025.2"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK11",
"gene_hgnc_id": 18593,
"hgvs_c": "c.163G>C",
"hgvs_p": "p.Glu55Gln",
"transcript": "ENST00000972127.1",
"protein_id": "ENSP00000642186.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 644,
"cds_start": 163,
"cds_end": null,
"cds_length": 1935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972127.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK11",
"gene_hgnc_id": 18593,
"hgvs_c": "c.163G>C",
"hgvs_p": "p.Glu55Gln",
"transcript": "ENST00000972130.1",
"protein_id": "ENSP00000642189.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 644,
"cds_start": 163,
"cds_end": null,
"cds_length": 1935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972130.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK11",
"gene_hgnc_id": 18593,
"hgvs_c": "c.163G>C",
"hgvs_p": "p.Glu55Gln",
"transcript": "NM_001353026.2",
"protein_id": "NP_001339955.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 641,
"cds_start": 163,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353026.2"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK11",
"gene_hgnc_id": 18593,
"hgvs_c": "c.163G>C",
"hgvs_p": "p.Glu55Gln",
"transcript": "NM_001353027.2",
"protein_id": "NP_001339956.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 609,
"cds_start": 163,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353027.2"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK11",
"gene_hgnc_id": 18593,
"hgvs_c": "c.163G>C",
"hgvs_p": "p.Glu55Gln",
"transcript": "ENST00000851277.1",
"protein_id": "ENSP00000521336.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 609,
"cds_start": 163,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851277.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK11",
"gene_hgnc_id": 18593,
"hgvs_c": "c.163G>C",
"hgvs_p": "p.Glu55Gln",
"transcript": "ENST00000972126.1",
"protein_id": "ENSP00000642185.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 609,
"cds_start": 163,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"splice_prediction_selected": "Benign",
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{
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],
"verdict": "Uncertain_significance",
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}