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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: 17-7703083-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=7703083&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "WRAP53",
"hgnc_id": 25522,
"hgvs_c": "c.1359C>G",
"hgvs_p": "p.Pro453Pro",
"inheritance_mode": "AR,AD,SD,Unknown",
"pathogenic_score": 2,
"score": -3,
"transcript": "NM_018081.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_score": -3,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.93,
"chr": "17",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.9300000071525574,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 548,
"aa_ref": "P",
"aa_start": 453,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1749,
"cdna_start": 1445,
"cds_end": null,
"cds_length": 1647,
"cds_start": 1359,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001143992.2",
"gene_hgnc_id": 25522,
"gene_symbol": "WRAP53",
"hgvs_c": "c.1359C>G",
"hgvs_p": "p.Pro453Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000396463.7",
"protein_coding": true,
"protein_id": "NP_001137464.1",
"strand": true,
"transcript": "NM_001143992.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 548,
"aa_ref": "P",
"aa_start": 453,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1749,
"cdna_start": 1445,
"cds_end": null,
"cds_length": 1647,
"cds_start": 1359,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000396463.7",
"gene_hgnc_id": 25522,
"gene_symbol": "WRAP53",
"hgvs_c": "c.1359C>G",
"hgvs_p": "p.Pro453Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001143992.2",
"protein_coding": true,
"protein_id": "ENSP00000379727.3",
"strand": true,
"transcript": "ENST00000396463.7",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 548,
"aa_ref": "P",
"aa_start": 453,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4011,
"cdna_start": 3707,
"cds_end": null,
"cds_length": 1647,
"cds_start": 1359,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000316024.9",
"gene_hgnc_id": 25522,
"gene_symbol": "WRAP53",
"hgvs_c": "c.1359C>G",
"hgvs_p": "p.Pro453Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000324203.5",
"strand": true,
"transcript": "ENST00000316024.9",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 548,
"aa_ref": "P",
"aa_start": 453,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1818,
"cdna_start": 1514,
"cds_end": null,
"cds_length": 1647,
"cds_start": 1359,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000431639.6",
"gene_hgnc_id": 25522,
"gene_symbol": "WRAP53",
"hgvs_c": "c.1359C>G",
"hgvs_p": "p.Pro453Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000397219.2",
"strand": true,
"transcript": "ENST00000431639.6",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 548,
"aa_ref": "P",
"aa_start": 453,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1828,
"cdna_start": 1524,
"cds_end": null,
"cds_length": 1647,
"cds_start": 1359,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000457584.6",
"gene_hgnc_id": 25522,
"gene_symbol": "WRAP53",
"hgvs_c": "c.1359C>G",
"hgvs_p": "p.Pro453Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000411061.2",
"strand": true,
"transcript": "ENST00000457584.6",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 515,
"aa_ref": "P",
"aa_start": 420,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1736,
"cdna_start": 1432,
"cds_end": null,
"cds_length": 1548,
"cds_start": 1260,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000534050.5",
"gene_hgnc_id": 25522,
"gene_symbol": "WRAP53",
"hgvs_c": "c.1260C>G",
"hgvs_p": "p.Pro420Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000434999.1",
"strand": true,
"transcript": "ENST00000534050.5",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 603,
"aa_ref": "P",
"aa_start": 508,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1909,
"cdna_start": 1607,
"cds_end": null,
"cds_length": 1812,
"cds_start": 1524,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000932535.1",
"gene_hgnc_id": 25522,
"gene_symbol": "WRAP53",
"hgvs_c": "c.1524C>G",
"hgvs_p": "p.Pro508Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602594.1",
"strand": true,
"transcript": "ENST00000932535.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 554,
"aa_ref": "P",
"aa_start": 459,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1767,
"cdna_start": 1463,
"cds_end": null,
"cds_length": 1665,
"cds_start": 1377,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000868854.1",
"gene_hgnc_id": 25522,
"gene_symbol": "WRAP53",
"hgvs_c": "c.1377C>G",
"hgvs_p": "p.Pro459Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538913.1",
"strand": true,
"transcript": "ENST00000868854.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 554,
"aa_ref": "P",
"aa_start": 459,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1984,
"cdna_start": 1682,
"cds_end": null,
"cds_length": 1665,
"cds_start": 1377,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000932533.1",
"gene_hgnc_id": 25522,
"gene_symbol": "WRAP53",
"hgvs_c": "c.1377C>G",
"hgvs_p": "p.Pro459Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602592.1",
"strand": true,
"transcript": "ENST00000932533.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 548,
"aa_ref": "P",
"aa_start": 453,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1818,
"cdna_start": 1514,
"cds_end": null,
"cds_length": 1647,
"cds_start": 1359,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001143990.2",
"gene_hgnc_id": 25522,
"gene_symbol": "WRAP53",
"hgvs_c": "c.1359C>G",
"hgvs_p": "p.Pro453Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001137462.1",
"strand": true,
"transcript": "NM_001143990.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 548,
"aa_ref": "P",
"aa_start": 453,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1839,
"cdna_start": 1535,
"cds_end": null,
"cds_length": 1647,
"cds_start": 1359,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001143991.2",
"gene_hgnc_id": 25522,
"gene_symbol": "WRAP53",
"hgvs_c": "c.1359C>G",
"hgvs_p": "p.Pro453Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001137463.1",
"strand": true,
"transcript": "NM_001143991.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 548,
"aa_ref": "P",
"aa_start": 453,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1963,
"cdna_start": 1659,
"cds_end": null,
"cds_length": 1647,
"cds_start": 1359,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_018081.2",
"gene_hgnc_id": 25522,
"gene_symbol": "WRAP53",
"hgvs_c": "c.1359C>G",
"hgvs_p": "p.Pro453Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_060551.2",
"strand": true,
"transcript": "NM_018081.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 531,
"aa_ref": "P",
"aa_start": 436,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1697,
"cdna_start": 1390,
"cds_end": null,
"cds_length": 1596,
"cds_start": 1308,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000932534.1",
"gene_hgnc_id": 25522,
"gene_symbol": "WRAP53",
"hgvs_c": "c.1308C>G",
"hgvs_p": "p.Pro436Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602593.1",
"strand": true,
"transcript": "ENST00000932534.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 529,
"aa_ref": "P",
"aa_start": 434,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1727,
"cdna_start": 1427,
"cds_end": null,
"cds_length": 1590,
"cds_start": 1302,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000868853.1",
"gene_hgnc_id": 25522,
"gene_symbol": "WRAP53",
"hgvs_c": "c.1302C>G",
"hgvs_p": "p.Pro434Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538912.1",
"strand": true,
"transcript": "ENST00000868853.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 515,
"aa_ref": "P",
"aa_start": 420,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1686,
"cdna_start": 1385,
"cds_end": null,
"cds_length": 1548,
"cds_start": 1260,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000964568.1",
"gene_hgnc_id": 25522,
"gene_symbol": "WRAP53",
"hgvs_c": "c.1260C>G",
"hgvs_p": "p.Pro420Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634627.1",
"strand": true,
"transcript": "ENST00000964568.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 469,
"aa_ref": "P",
"aa_start": 453,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2124,
"cdna_start": 2009,
"cds_end": null,
"cds_length": 1410,
"cds_start": 1359,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000698742.1",
"gene_hgnc_id": 25522,
"gene_symbol": "WRAP53",
"hgvs_c": "c.1359C>G",
"hgvs_p": "p.Pro453Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513904.1",
"strand": true,
"transcript": "ENST00000698742.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 412,
"aa_ref": "P",
"aa_start": 317,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1255,
"cdna_start": 951,
"cds_end": null,
"cds_length": 1239,
"cds_start": 951,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000698747.1",
"gene_hgnc_id": 25522,
"gene_symbol": "WRAP53",
"hgvs_c": "c.951C>G",
"hgvs_p": "p.Pro317Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513909.1",
"strand": true,
"transcript": "ENST00000698747.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 503,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1610,
"cdna_start": null,
"cds_end": null,
"cds_length": 1512,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000698746.1",
"gene_hgnc_id": 25522,
"gene_symbol": "WRAP53",
"hgvs_c": "c.1269-160C>G",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513908.1",
"strand": true,
"transcript": "ENST00000698746.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 504,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000463804.6",
"gene_hgnc_id": 25522,
"gene_symbol": "WRAP53",
"hgvs_c": "n.*187C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000465025.1",
"strand": true,
"transcript": "ENST00000463804.6",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2525,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000467699.5",
"gene_hgnc_id": 25522,
"gene_symbol": "WRAP53",
"hgvs_c": "n.2221C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000467699.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 998,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000471973.6",
"gene_hgnc_id": 25522,
"gene_symbol": "WRAP53",
"hgvs_c": "n.694C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
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