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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: 20-35115804-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=35115804&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "EDEM2",
"hgnc_id": 15877,
"hgvs_c": "c.1366G>A",
"hgvs_p": "p.Ala456Thr",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_018217.3",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MMP24-AS1-EDEM2",
"hgnc_id": null,
"hgvs_c": "c.1243G>A",
"hgvs_p": "p.Ala415Thr",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_001355008.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 259078,
"alphamissense_prediction": null,
"alphamissense_score": 0.0589,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.66,
"chr": "20",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.0026990771293640137,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 578,
"aa_ref": "A",
"aa_start": 456,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1884,
"cdna_start": 1444,
"cds_end": null,
"cds_length": 1737,
"cds_start": 1366,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_018217.3",
"gene_hgnc_id": 15877,
"gene_symbol": "EDEM2",
"hgvs_c": "c.1366G>A",
"hgvs_p": "p.Ala456Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000374492.8",
"protein_coding": true,
"protein_id": "NP_060687.2",
"strand": false,
"transcript": "NM_018217.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 578,
"aa_ref": "A",
"aa_start": 456,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1884,
"cdna_start": 1444,
"cds_end": null,
"cds_length": 1737,
"cds_start": 1366,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000374492.8",
"gene_hgnc_id": 15877,
"gene_symbol": "EDEM2",
"hgvs_c": "c.1366G>A",
"hgvs_p": "p.Ala456Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_018217.3",
"protein_coding": true,
"protein_id": "ENSP00000363616.3",
"strand": false,
"transcript": "ENST00000374492.8",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 541,
"aa_ref": "A",
"aa_start": 419,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1756,
"cdna_start": 1316,
"cds_end": null,
"cds_length": 1626,
"cds_start": 1255,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000374491.3",
"gene_hgnc_id": 15877,
"gene_symbol": "EDEM2",
"hgvs_c": "c.1255G>A",
"hgvs_p": "p.Ala419Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000363615.2",
"strand": false,
"transcript": "ENST00000374491.3",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 594,
"aa_ref": "A",
"aa_start": 472,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1952,
"cdna_start": 1512,
"cds_end": null,
"cds_length": 1785,
"cds_start": 1414,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000881595.1",
"gene_hgnc_id": 15877,
"gene_symbol": "EDEM2",
"hgvs_c": "c.1414G>A",
"hgvs_p": "p.Ala472Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551654.1",
"strand": false,
"transcript": "ENST00000881595.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 582,
"aa_ref": "A",
"aa_start": 460,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1889,
"cdna_start": 1450,
"cds_end": null,
"cds_length": 1749,
"cds_start": 1378,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000959812.1",
"gene_hgnc_id": 15877,
"gene_symbol": "EDEM2",
"hgvs_c": "c.1378G>A",
"hgvs_p": "p.Ala460Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629871.1",
"strand": false,
"transcript": "ENST00000959812.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 579,
"aa_ref": "A",
"aa_start": 457,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1900,
"cdna_start": 1456,
"cds_end": null,
"cds_length": 1740,
"cds_start": 1369,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000933155.1",
"gene_hgnc_id": 15877,
"gene_symbol": "EDEM2",
"hgvs_c": "c.1369G>A",
"hgvs_p": "p.Ala457Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603214.1",
"strand": false,
"transcript": "ENST00000933155.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 576,
"aa_ref": "A",
"aa_start": 454,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1877,
"cdna_start": 1439,
"cds_end": null,
"cds_length": 1731,
"cds_start": 1360,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000881599.1",
"gene_hgnc_id": 15877,
"gene_symbol": "EDEM2",
"hgvs_c": "c.1360G>A",
"hgvs_p": "p.Ala454Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551658.1",
"strand": false,
"transcript": "ENST00000881599.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 571,
"aa_ref": "A",
"aa_start": 449,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1855,
"cdna_start": 1415,
"cds_end": null,
"cds_length": 1716,
"cds_start": 1345,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000881600.1",
"gene_hgnc_id": 15877,
"gene_symbol": "EDEM2",
"hgvs_c": "c.1345G>A",
"hgvs_p": "p.Ala449Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551659.1",
"strand": false,
"transcript": "ENST00000881600.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 571,
"aa_ref": "A",
"aa_start": 449,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1866,
"cdna_start": 1428,
"cds_end": null,
"cds_length": 1716,
"cds_start": 1345,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000959811.1",
"gene_hgnc_id": 15877,
"gene_symbol": "EDEM2",
"hgvs_c": "c.1345G>A",
"hgvs_p": "p.Ala449Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629870.1",
"strand": false,
"transcript": "ENST00000959811.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 541,
"aa_ref": "A",
"aa_start": 419,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1773,
"cdna_start": 1333,
"cds_end": null,
"cds_length": 1626,
"cds_start": 1255,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001145025.2",
"gene_hgnc_id": 15877,
"gene_symbol": "EDEM2",
"hgvs_c": "c.1255G>A",
"hgvs_p": "p.Ala419Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001138497.1",
"strand": false,
"transcript": "NM_001145025.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 541,
"aa_ref": "A",
"aa_start": 419,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1718,
"cdna_start": 1281,
"cds_end": null,
"cds_length": 1626,
"cds_start": 1255,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000881601.1",
"gene_hgnc_id": 15877,
"gene_symbol": "EDEM2",
"hgvs_c": "c.1255G>A",
"hgvs_p": "p.Ala419Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551660.1",
"strand": false,
"transcript": "ENST00000881601.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 537,
"aa_ref": "A",
"aa_start": 415,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2363,
"cdna_start": 1923,
"cds_end": null,
"cds_length": 1614,
"cds_start": 1243,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001355008.2",
"gene_hgnc_id": null,
"gene_symbol": "MMP24-AS1-EDEM2",
"hgvs_c": "c.1243G>A",
"hgvs_p": "p.Ala415Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341937.1",
"strand": false,
"transcript": "NM_001355008.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 536,
"aa_ref": "A",
"aa_start": 414,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1768,
"cdna_start": 1330,
"cds_end": null,
"cds_length": 1611,
"cds_start": 1240,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000881597.1",
"gene_hgnc_id": 15877,
"gene_symbol": "EDEM2",
"hgvs_c": "c.1240G>A",
"hgvs_p": "p.Ala414Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551656.1",
"strand": false,
"transcript": "ENST00000881597.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 532,
"aa_ref": "A",
"aa_start": 410,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1756,
"cdna_start": 1316,
"cds_end": null,
"cds_length": 1599,
"cds_start": 1228,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000959810.1",
"gene_hgnc_id": 15877,
"gene_symbol": "EDEM2",
"hgvs_c": "c.1228G>A",
"hgvs_p": "p.Ala410Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629869.1",
"strand": false,
"transcript": "ENST00000959810.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 499,
"aa_ref": "A",
"aa_start": 377,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1638,
"cdna_start": 1201,
"cds_end": null,
"cds_length": 1500,
"cds_start": 1129,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000959814.1",
"gene_hgnc_id": 15877,
"gene_symbol": "EDEM2",
"hgvs_c": "c.1129G>A",
"hgvs_p": "p.Ala377Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629873.1",
"strand": false,
"transcript": "ENST00000959814.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 499,
"aa_ref": "A",
"aa_start": 377,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1609,
"cdna_start": 1173,
"cds_end": null,
"cds_length": 1500,
"cds_start": 1129,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000959815.1",
"gene_hgnc_id": 15877,
"gene_symbol": "EDEM2",
"hgvs_c": "c.1129G>A",
"hgvs_p": "p.Ala377Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629874.1",
"strand": false,
"transcript": "ENST00000959815.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 489,
"aa_ref": "A",
"aa_start": 367,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1629,
"cdna_start": 1189,
"cds_end": null,
"cds_length": 1470,
"cds_start": 1099,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000933156.1",
"gene_hgnc_id": 15877,
"gene_symbol": "EDEM2",
"hgvs_c": "c.1099G>A",
"hgvs_p": "p.Ala367Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603215.1",
"strand": false,
"transcript": "ENST00000933156.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 488,
"aa_ref": "A",
"aa_start": 366,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1616,
"cdna_start": 1178,
"cds_end": null,
"cds_length": 1467,
"cds_start": 1096,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000881598.1",
"gene_hgnc_id": 15877,
"gene_symbol": "EDEM2",
"hgvs_c": "c.1096G>A",
"hgvs_p": "p.Ala366Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551657.1",
"strand": false,
"transcript": "ENST00000881598.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 476,
"aa_ref": "A",
"aa_start": 354,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1569,
"cdna_start": 1132,
"cds_end": null,
"cds_length": 1431,
"cds_start": 1060,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000959813.1",
"gene_hgnc_id": 15877,
"gene_symbol": "EDEM2",
"hgvs_c": "c.1060G>A",
"hgvs_p": "p.Ala354Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629872.1",
"strand": false,
"transcript": "ENST00000959813.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 460,
"aa_ref": "A",
"aa_start": 338,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1552,
"cdna_start": 1112,
"cds_end": null,
"cds_length": 1383,
"cds_start": 1012,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000881594.1",
"gene_hgnc_id": 15877,
"gene_symbol": "EDEM2",
"hgvs_c": "c.1012G>A",
"hgvs_p": "p.Ala338Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551653.1",
"strand": false,
"transcript": "ENST00000881594.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 423,
"aa_ref": "A",
"aa_start": 301,
"biotype": "protein_coding",
"canonical": false,
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