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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: 11-31509801-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=31509801&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 31509801,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000640961.2",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP4",
"gene_hgnc_id": 1171,
"hgvs_c": "c.17C>A",
"hgvs_p": "p.Thr6Asn",
"transcript": "NM_019040.5",
"protein_id": "NP_061913.3",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 424,
"cds_start": 17,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 35,
"cdna_end": null,
"cdna_length": 8093,
"mane_select": "ENST00000640961.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP4",
"gene_hgnc_id": 1171,
"hgvs_c": "c.17C>A",
"hgvs_p": "p.Thr6Asn",
"transcript": "ENST00000640961.2",
"protein_id": "ENSP00000492152.1",
"transcript_support_level": 1,
"aa_start": 6,
"aa_end": null,
"aa_length": 424,
"cds_start": 17,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 35,
"cdna_end": null,
"cdna_length": 8093,
"mane_select": "NM_019040.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP4",
"gene_hgnc_id": 1171,
"hgvs_c": "c.17C>A",
"hgvs_p": "p.Thr6Asn",
"transcript": "ENST00000395934.2",
"protein_id": "ENSP00000379267.2",
"transcript_support_level": 1,
"aa_start": 6,
"aa_end": null,
"aa_length": 535,
"cds_start": 17,
"cds_end": null,
"cds_length": 1608,
"cdna_start": 24,
"cdna_end": null,
"cdna_length": 1961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP4",
"gene_hgnc_id": 1171,
"hgvs_c": "c.17C>A",
"hgvs_p": "p.Thr6Asn",
"transcript": "NM_001288726.2",
"protein_id": "NP_001275655.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 535,
"cds_start": 17,
"cds_end": null,
"cds_length": 1608,
"cdna_start": 35,
"cdna_end": null,
"cdna_length": 8521,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP4",
"gene_hgnc_id": 1171,
"hgvs_c": "c.17C>A",
"hgvs_p": "p.Thr6Asn",
"transcript": "NM_001288725.2",
"protein_id": "NP_001275654.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 476,
"cds_start": 17,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 35,
"cdna_end": null,
"cdna_length": 8235,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP4",
"gene_hgnc_id": 1171,
"hgvs_c": "c.17C>A",
"hgvs_p": "p.Thr6Asn",
"transcript": "ENST00000379163.10",
"protein_id": "ENSP00000368461.5",
"transcript_support_level": 2,
"aa_start": 6,
"aa_end": null,
"aa_length": 476,
"cds_start": 17,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 43,
"cdna_end": null,
"cdna_length": 1700,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP4",
"gene_hgnc_id": 1171,
"hgvs_c": "c.17C>A",
"hgvs_p": "p.Thr6Asn",
"transcript": "ENST00000640231.1",
"protein_id": "ENSP00000492475.1",
"transcript_support_level": 5,
"aa_start": 6,
"aa_end": null,
"aa_length": 475,
"cds_start": 17,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 30,
"cdna_end": null,
"cdna_length": 2062,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP4",
"gene_hgnc_id": 1171,
"hgvs_c": "c.17C>A",
"hgvs_p": "p.Thr6Asn",
"transcript": "ENST00000640954.1",
"protein_id": "ENSP00000492376.1",
"transcript_support_level": 5,
"aa_start": 6,
"aa_end": null,
"aa_length": 450,
"cds_start": 17,
"cds_end": null,
"cds_length": 1353,
"cdna_start": 24,
"cdna_end": null,
"cdna_length": 1612,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP4",
"gene_hgnc_id": 1171,
"hgvs_c": "c.17C>A",
"hgvs_p": "p.Thr6Asn",
"transcript": "ENST00000350638.10",
"protein_id": "ENSP00000298937.9",
"transcript_support_level": 5,
"aa_start": 6,
"aa_end": null,
"aa_length": 425,
"cds_start": 17,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 40,
"cdna_end": null,
"cdna_length": 1907,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP4",
"gene_hgnc_id": 1171,
"hgvs_c": "c.17C>A",
"hgvs_p": "p.Thr6Asn",
"transcript": "ENST00000640533.1",
"protein_id": "ENSP00000492770.1",
"transcript_support_level": 5,
"aa_start": 6,
"aa_end": null,
"aa_length": 425,
"cds_start": 17,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 35,
"cdna_end": null,
"cdna_length": 1801,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP4",
"gene_hgnc_id": 1171,
"hgvs_c": "c.17C>A",
"hgvs_p": "p.Thr6Asn",
"transcript": "ENST00000638482.1",
"protein_id": "ENSP00000491641.1",
"transcript_support_level": 5,
"aa_start": 6,
"aa_end": null,
"aa_length": 424,
"cds_start": 17,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 35,
"cdna_end": null,
"cdna_length": 3084,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP4",
"gene_hgnc_id": 1171,
"hgvs_c": "c.17C>A",
"hgvs_p": "p.Thr6Asn",
"transcript": "ENST00000640342.1",
"protein_id": "ENSP00000492628.1",
"transcript_support_level": 5,
"aa_start": 6,
"aa_end": null,
"aa_length": 396,
"cds_start": 17,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 32,
"cdna_end": null,
"cdna_length": 1392,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP4",
"gene_hgnc_id": 1171,
"hgvs_c": "c.17C>A",
"hgvs_p": "p.Thr6Asn",
"transcript": "ENST00000638347.1",
"protein_id": "ENSP00000492567.1",
"transcript_support_level": 5,
"aa_start": 6,
"aa_end": null,
"aa_length": 395,
"cds_start": 17,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 40,
"cdna_end": null,
"cdna_length": 1651,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP4",
"gene_hgnc_id": 1171,
"hgvs_c": "c.17C>A",
"hgvs_p": "p.Thr6Asn",
"transcript": "ENST00000639570.1",
"protein_id": "ENSP00000491971.1",
"transcript_support_level": 5,
"aa_start": 6,
"aa_end": null,
"aa_length": 392,
"cds_start": 17,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 35,
"cdna_end": null,
"cdna_length": 5795,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP4",
"gene_hgnc_id": 1171,
"hgvs_c": "c.17C>A",
"hgvs_p": "p.Thr6Asn",
"transcript": "ENST00000639878.1",
"protein_id": "ENSP00000491157.1",
"transcript_support_level": 5,
"aa_start": 6,
"aa_end": null,
"aa_length": 386,
"cds_start": 17,
"cds_end": null,
"cds_length": 1161,
"cdna_start": 47,
"cdna_end": null,
"cdna_length": 1583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP4",
"gene_hgnc_id": 1171,
"hgvs_c": "c.17C>A",
"hgvs_p": "p.Thr6Asn",
"transcript": "ENST00000638764.1",
"protein_id": "ENSP00000491284.1",
"transcript_support_level": 5,
"aa_start": 6,
"aa_end": null,
"aa_length": 101,
"cds_start": 17,
"cds_end": null,
"cds_length": 306,
"cdna_start": 35,
"cdna_end": null,
"cdna_length": 2456,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP4",
"gene_hgnc_id": 1171,
"hgvs_c": "n.17C>A",
"hgvs_p": null,
"transcript": "ENST00000474374.5",
"protein_id": "ENSP00000432642.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1161,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP4",
"gene_hgnc_id": 1171,
"hgvs_c": "n.23C>A",
"hgvs_p": null,
"transcript": "ENST00000638508.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2163,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP4",
"gene_hgnc_id": 1171,
"hgvs_c": "n.17C>A",
"hgvs_p": null,
"transcript": "ENST00000638917.1",
"protein_id": "ENSP00000491989.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2306,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP4",
"gene_hgnc_id": 1171,
"hgvs_c": "n.17C>A",
"hgvs_p": null,
"transcript": "ENST00000640081.1",
"protein_id": "ENSP00000491839.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2385,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "c.-312G>T",
"hgvs_p": null,
"transcript": "NM_001304274.2",
"protein_id": "NP_001291203.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 166,
"cds_start": -4,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 733,
"mane_select": "ENST00000532287.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "c.-312G>T",
"hgvs_p": null,
"transcript": "ENST00000532287.6",
"protein_id": "ENSP00000435576.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 166,
"cds_start": -4,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 733,
"mane_select": "NM_001304274.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "n.-238G>T",
"hgvs_p": null,
"transcript": "ENST00000528161.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
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],
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"splice_prediction_selected": "Benign",
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"phylop100way_prediction": "Benign",
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{
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"BS2"
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"verdict": "Likely_benign",
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{
"score": 0,
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"verdict": "Uncertain_significance",
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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
}