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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: 11-31509815-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=31509815&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 31509815,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001288726.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"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.31G>A",
"hgvs_p": "p.Ala11Thr",
"transcript": "NM_019040.5",
"protein_id": "NP_061913.3",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 424,
"cds_start": 31,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000640961.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_019040.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.31G>A",
"hgvs_p": "p.Ala11Thr",
"transcript": "ENST00000640961.2",
"protein_id": "ENSP00000492152.1",
"transcript_support_level": 1,
"aa_start": 11,
"aa_end": null,
"aa_length": 424,
"cds_start": 31,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_019040.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000640961.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.31G>A",
"hgvs_p": "p.Ala11Thr",
"transcript": "ENST00000395934.2",
"protein_id": "ENSP00000379267.2",
"transcript_support_level": 1,
"aa_start": 11,
"aa_end": null,
"aa_length": 535,
"cds_start": 31,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395934.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.31G>A",
"hgvs_p": "p.Ala11Thr",
"transcript": "NM_001288726.2",
"protein_id": "NP_001275655.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 535,
"cds_start": 31,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288726.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.31G>A",
"hgvs_p": "p.Ala11Thr",
"transcript": "NM_001288725.2",
"protein_id": "NP_001275654.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 476,
"cds_start": 31,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288725.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.31G>A",
"hgvs_p": "p.Ala11Thr",
"transcript": "ENST00000379163.10",
"protein_id": "ENSP00000368461.5",
"transcript_support_level": 2,
"aa_start": 11,
"aa_end": null,
"aa_length": 476,
"cds_start": 31,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379163.10"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.31G>A",
"hgvs_p": "p.Ala11Thr",
"transcript": "ENST00000640231.1",
"protein_id": "ENSP00000492475.1",
"transcript_support_level": 5,
"aa_start": 11,
"aa_end": null,
"aa_length": 475,
"cds_start": 31,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000640231.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.31G>A",
"hgvs_p": "p.Ala11Thr",
"transcript": "ENST00000640954.1",
"protein_id": "ENSP00000492376.1",
"transcript_support_level": 5,
"aa_start": 11,
"aa_end": null,
"aa_length": 450,
"cds_start": 31,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000640954.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.31G>A",
"hgvs_p": "p.Ala11Thr",
"transcript": "ENST00000350638.10",
"protein_id": "ENSP00000298937.9",
"transcript_support_level": 5,
"aa_start": 11,
"aa_end": null,
"aa_length": 425,
"cds_start": 31,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000350638.10"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.31G>A",
"hgvs_p": "p.Ala11Thr",
"transcript": "ENST00000640533.1",
"protein_id": "ENSP00000492770.1",
"transcript_support_level": 5,
"aa_start": 11,
"aa_end": null,
"aa_length": 425,
"cds_start": 31,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000640533.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.31G>A",
"hgvs_p": "p.Ala11Thr",
"transcript": "ENST00000638482.1",
"protein_id": "ENSP00000491641.1",
"transcript_support_level": 5,
"aa_start": 11,
"aa_end": null,
"aa_length": 424,
"cds_start": 31,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000638482.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.31G>A",
"hgvs_p": "p.Ala11Thr",
"transcript": "ENST00000948243.1",
"protein_id": "ENSP00000618302.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 421,
"cds_start": 31,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948243.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.31G>A",
"hgvs_p": "p.Ala11Thr",
"transcript": "ENST00000948241.1",
"protein_id": "ENSP00000618300.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 413,
"cds_start": 31,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948241.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.31G>A",
"hgvs_p": "p.Ala11Thr",
"transcript": "ENST00000948242.1",
"protein_id": "ENSP00000618301.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 412,
"cds_start": 31,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948242.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.31G>A",
"hgvs_p": "p.Ala11Thr",
"transcript": "ENST00000640342.1",
"protein_id": "ENSP00000492628.1",
"transcript_support_level": 5,
"aa_start": 11,
"aa_end": null,
"aa_length": 396,
"cds_start": 31,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000640342.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.31G>A",
"hgvs_p": "p.Ala11Thr",
"transcript": "ENST00000638347.1",
"protein_id": "ENSP00000492567.1",
"transcript_support_level": 5,
"aa_start": 11,
"aa_end": null,
"aa_length": 395,
"cds_start": 31,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000638347.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.31G>A",
"hgvs_p": "p.Ala11Thr",
"transcript": "ENST00000639570.1",
"protein_id": "ENSP00000491971.1",
"transcript_support_level": 5,
"aa_start": 11,
"aa_end": null,
"aa_length": 392,
"cds_start": 31,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000639570.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.31G>A",
"hgvs_p": "p.Ala11Thr",
"transcript": "ENST00000639878.1",
"protein_id": "ENSP00000491157.1",
"transcript_support_level": 5,
"aa_start": 11,
"aa_end": null,
"aa_length": 386,
"cds_start": 31,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000639878.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.31G>A",
"hgvs_p": "p.Ala11Thr",
"transcript": "ENST00000919838.1",
"protein_id": "ENSP00000589897.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 380,
"cds_start": 31,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919838.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.31G>A",
"hgvs_p": "p.Ala11Thr",
"transcript": "ENST00000638764.1",
"protein_id": "ENSP00000491284.1",
"transcript_support_level": 5,
"aa_start": 11,
"aa_end": null,
"aa_length": 101,
"cds_start": 31,
"cds_end": null,
"cds_length": 306,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000638764.1"
},
{
"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.31G>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": 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": "ENST00000474374.5"
},
{
"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.37G>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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000638508.1"
},
{
"aa_ref": null,
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"revel_prediction": "Benign",
"alphamissense_score": 0.0767,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.73,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.832,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -10,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BS2",
"acmg_by_gene": [
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001288726.2",
"gene_symbol": "ELP4",
"hgnc_id": 1171,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.31G>A",
"hgvs_p": "p.Ala11Thr"
},
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_144981.3",
"gene_symbol": "IMMP1L",
"hgnc_id": 26317,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-389C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}