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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: 5-140674765-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=140674765&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 9,
"criteria": [
"PM1",
"BP4_Strong",
"BP6",
"BS1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "HARS1",
"hgnc_id": 4816,
"hgvs_c": "c.1372G>A",
"hgvs_p": "p.Ala458Thr",
"inheritance_mode": "AR,AD",
"pathogenic_score": 2,
"score": -7,
"transcript": "NM_002109.6",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "PM1,BP4_Strong,BP6,BS1",
"acmg_score": -7,
"allele_count_reference_population": 36,
"alphamissense_prediction": null,
"alphamissense_score": 0.0627,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.42,
"chr": "5",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Usher syndrome type 3B,not provided,not specified",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.03553175926208496,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 509,
"aa_ref": "A",
"aa_start": 458,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1948,
"cdna_start": 1438,
"cds_end": null,
"cds_length": 1530,
"cds_start": 1372,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_002109.6",
"gene_hgnc_id": 4816,
"gene_symbol": "HARS1",
"hgvs_c": "c.1372G>A",
"hgvs_p": "p.Ala458Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000504156.7",
"protein_coding": true,
"protein_id": "NP_002100.2",
"strand": false,
"transcript": "NM_002109.6",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 509,
"aa_ref": "A",
"aa_start": 458,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1948,
"cdna_start": 1438,
"cds_end": null,
"cds_length": 1530,
"cds_start": 1372,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000504156.7",
"gene_hgnc_id": 4816,
"gene_symbol": "HARS1",
"hgvs_c": "c.1372G>A",
"hgvs_p": "p.Ala458Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002109.6",
"protein_coding": true,
"protein_id": "ENSP00000425634.1",
"strand": false,
"transcript": "ENST00000504156.7",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 489,
"aa_ref": "A",
"aa_start": 438,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1896,
"cdna_start": 1385,
"cds_end": null,
"cds_length": 1470,
"cds_start": 1312,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000457527.6",
"gene_hgnc_id": 4816,
"gene_symbol": "HARS1",
"hgvs_c": "c.1312G>A",
"hgvs_p": "p.Ala438Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000387893.2",
"strand": false,
"transcript": "ENST00000457527.6",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 548,
"aa_ref": "A",
"aa_start": 497,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2058,
"cdna_start": 1552,
"cds_end": null,
"cds_length": 1647,
"cds_start": 1489,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000942727.1",
"gene_hgnc_id": 4816,
"gene_symbol": "HARS1",
"hgvs_c": "c.1489G>A",
"hgvs_p": "p.Ala497Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612786.1",
"strand": false,
"transcript": "ENST00000942727.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 513,
"aa_ref": "A",
"aa_start": 462,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1903,
"cdna_start": 1395,
"cds_end": null,
"cds_length": 1542,
"cds_start": 1384,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000942728.1",
"gene_hgnc_id": 4816,
"gene_symbol": "HARS1",
"hgvs_c": "c.1384G>A",
"hgvs_p": "p.Ala462Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612787.1",
"strand": false,
"transcript": "ENST00000942728.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 512,
"aa_ref": "A",
"aa_start": 458,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1902,
"cdna_start": 1483,
"cds_end": null,
"cds_length": 1539,
"cds_start": 1372,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000507746.7",
"gene_hgnc_id": 4816,
"gene_symbol": "HARS1",
"hgvs_c": "c.1372G>A",
"hgvs_p": "p.Ala458Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000425889.2",
"strand": false,
"transcript": "ENST00000507746.7",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 511,
"aa_ref": "A",
"aa_start": 458,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2327,
"cdna_start": 1483,
"cds_end": null,
"cds_length": 1536,
"cds_start": 1372,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000675204.1",
"gene_hgnc_id": 4816,
"gene_symbol": "HARS1",
"hgvs_c": "c.1372G>A",
"hgvs_p": "p.Ala458Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501643.1",
"strand": false,
"transcript": "ENST00000675204.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 507,
"aa_ref": "A",
"aa_start": 456,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1953,
"cdna_start": 1443,
"cds_end": null,
"cds_length": 1524,
"cds_start": 1366,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000937417.1",
"gene_hgnc_id": 4816,
"gene_symbol": "HARS1",
"hgvs_c": "c.1366G>A",
"hgvs_p": "p.Ala456Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607476.1",
"strand": false,
"transcript": "ENST00000937417.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 492,
"aa_ref": "A",
"aa_start": 438,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1901,
"cdna_start": 1385,
"cds_end": null,
"cds_length": 1479,
"cds_start": 1312,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000937418.1",
"gene_hgnc_id": 4816,
"gene_symbol": "HARS1",
"hgvs_c": "c.1312G>A",
"hgvs_p": "p.Ala438Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607477.1",
"strand": false,
"transcript": "ENST00000937418.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 489,
"aa_ref": "A",
"aa_start": 438,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1888,
"cdna_start": 1378,
"cds_end": null,
"cds_length": 1470,
"cds_start": 1312,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001258041.3",
"gene_hgnc_id": 4816,
"gene_symbol": "HARS1",
"hgvs_c": "c.1312G>A",
"hgvs_p": "p.Ala438Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001244970.1",
"strand": false,
"transcript": "NM_001258041.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 489,
"aa_ref": "A",
"aa_start": 438,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1898,
"cdna_start": 1389,
"cds_end": null,
"cds_length": 1470,
"cds_start": 1312,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000942725.1",
"gene_hgnc_id": 4816,
"gene_symbol": "HARS1",
"hgvs_c": "c.1312G>A",
"hgvs_p": "p.Ala438Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612784.1",
"strand": false,
"transcript": "ENST00000942725.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 480,
"aa_ref": "A",
"aa_start": 429,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1861,
"cdna_start": 1351,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1285,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001289094.2",
"gene_hgnc_id": 4816,
"gene_symbol": "HARS1",
"hgvs_c": "c.1285G>A",
"hgvs_p": "p.Ala429Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001276023.1",
"strand": false,
"transcript": "NM_001289094.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 473,
"aa_ref": "A",
"aa_start": 422,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2729,
"cdna_start": 1349,
"cds_end": null,
"cds_length": 1422,
"cds_start": 1264,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000676327.1",
"gene_hgnc_id": 4816,
"gene_symbol": "HARS1",
"hgvs_c": "c.1264G>A",
"hgvs_p": "p.Ala422Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502594.1",
"strand": false,
"transcript": "ENST00000676327.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 470,
"aa_ref": "A",
"aa_start": 419,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2746,
"cdna_start": 1366,
"cds_end": null,
"cds_length": 1413,
"cds_start": 1255,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000675366.1",
"gene_hgnc_id": 4816,
"gene_symbol": "HARS1",
"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": "ENSP00000501747.1",
"strand": false,
"transcript": "ENST00000675366.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 469,
"aa_ref": "A",
"aa_start": 418,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1828,
"cdna_start": 1318,
"cds_end": null,
"cds_length": 1410,
"cds_start": 1252,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001258040.3",
"gene_hgnc_id": 4816,
"gene_symbol": "HARS1",
"hgvs_c": "c.1252G>A",
"hgvs_p": "p.Ala418Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001244969.1",
"strand": false,
"transcript": "NM_001258040.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 469,
"aa_ref": "A",
"aa_start": 418,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1789,
"cdna_start": 1289,
"cds_end": null,
"cds_length": 1410,
"cds_start": 1252,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000438307.6",
"gene_hgnc_id": 4816,
"gene_symbol": "HARS1",
"hgvs_c": "c.1252G>A",
"hgvs_p": "p.Ala418Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000411511.2",
"strand": false,
"transcript": "ENST00000438307.6",
"transcript_support_level": 2
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 467,
"aa_ref": "A",
"aa_start": 416,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1822,
"cdna_start": 1312,
"cds_end": null,
"cds_length": 1404,
"cds_start": 1246,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000937419.1",
"gene_hgnc_id": 4816,
"gene_symbol": "HARS1",
"hgvs_c": "c.1246G>A",
"hgvs_p": "p.Ala416Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607478.1",
"strand": false,
"transcript": "ENST00000937419.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 449,
"aa_ref": "A",
"aa_start": 398,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1768,
"cdna_start": 1258,
"cds_end": null,
"cds_length": 1350,
"cds_start": 1192,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001258042.3",
"gene_hgnc_id": 4816,
"gene_symbol": "HARS1",
"hgvs_c": "c.1192G>A",
"hgvs_p": "p.Ala398Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001244971.1",
"strand": false,
"transcript": "NM_001258042.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 449,
"aa_ref": "A",
"aa_start": 398,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1780,
"cdna_start": 1271,
"cds_end": null,
"cds_length": 1350,
"cds_start": 1192,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000307633.7",
"gene_hgnc_id": 4816,
"gene_symbol": "HARS1",
"hgvs_c": "c.1192G>A",
"hgvs_p": "p.Ala398Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000304668.3",
"strand": false,
"transcript": "ENST00000307633.7",
"transcript_support_level": 2
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 440,
"aa_ref": "A",
"aa_start": 389,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2595,
"cdna_start": 1215,
"cds_end": null,
"cds_length": 1323,
"cds_start": 1165,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000675698.1",
"gene_hgnc_id": 4816,
"gene_symbol": "HARS1",
"hgvs_c": "c.1165G>A",
"hgvs_p": "p.Ala389Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501581.1",
"strand": false,
"transcript": "ENST00000675698.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 438,
"aa_ref": "A",
"aa_start": 384,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1804,
"cdna_start": 1192,
"cds_end": null,
"cds_length": 1317,
"cds_start": 1150,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000937415.1",
"gene_hgnc_id": 4816,
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}