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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: 5-140674303-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=140674303&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"BP4",
"BP6",
"BS1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "HARS1",
"hgnc_id": 4816,
"hgvs_c": "c.1484T>C",
"hgvs_p": "p.Val495Ala",
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": -6,
"transcript": "NM_002109.6",
"verdict": "Likely_benign"
},
{
"benign_score": 2,
"criteria": [
"BP4",
"BP6"
],
"effects": [
"downstream_gene_variant"
],
"gene_symbol": "WDR55",
"hgnc_id": 25971,
"hgvs_c": "n.*2171A>G",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -2,
"transcript": "ENST00000504897.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BP6,BS1",
"acmg_score": -6,
"allele_count_reference_population": 31,
"alphamissense_prediction": null,
"alphamissense_score": 0.0913,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.13,
"chr": "5",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Usher syndrome type 3B,not specified",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.265822172164917,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 509,
"aa_ref": "V",
"aa_start": 495,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1948,
"cdna_start": 1550,
"cds_end": null,
"cds_length": 1530,
"cds_start": 1484,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_002109.6",
"gene_hgnc_id": 4816,
"gene_symbol": "HARS1",
"hgvs_c": "c.1484T>C",
"hgvs_p": "p.Val495Ala",
"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": "A",
"aa_end": null,
"aa_length": 509,
"aa_ref": "V",
"aa_start": 495,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1948,
"cdna_start": 1550,
"cds_end": null,
"cds_length": 1530,
"cds_start": 1484,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000504156.7",
"gene_hgnc_id": 4816,
"gene_symbol": "HARS1",
"hgvs_c": "c.1484T>C",
"hgvs_p": "p.Val495Ala",
"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": "A",
"aa_end": null,
"aa_length": 489,
"aa_ref": "V",
"aa_start": 475,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1896,
"cdna_start": 1497,
"cds_end": null,
"cds_length": 1470,
"cds_start": 1424,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000457527.6",
"gene_hgnc_id": 4816,
"gene_symbol": "HARS1",
"hgvs_c": "c.1424T>C",
"hgvs_p": "p.Val475Ala",
"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": "A",
"aa_end": null,
"aa_length": 548,
"aa_ref": "V",
"aa_start": 534,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2058,
"cdna_start": 1664,
"cds_end": null,
"cds_length": 1647,
"cds_start": 1601,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000942727.1",
"gene_hgnc_id": 4816,
"gene_symbol": "HARS1",
"hgvs_c": "c.1601T>C",
"hgvs_p": "p.Val534Ala",
"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": "A",
"aa_end": null,
"aa_length": 513,
"aa_ref": "V",
"aa_start": 499,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1903,
"cdna_start": 1507,
"cds_end": null,
"cds_length": 1542,
"cds_start": 1496,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000942728.1",
"gene_hgnc_id": 4816,
"gene_symbol": "HARS1",
"hgvs_c": "c.1496T>C",
"hgvs_p": "p.Val499Ala",
"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": "A",
"aa_end": null,
"aa_length": 512,
"aa_ref": "V",
"aa_start": 498,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1902,
"cdna_start": 1604,
"cds_end": null,
"cds_length": 1539,
"cds_start": 1493,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000507746.7",
"gene_hgnc_id": 4816,
"gene_symbol": "HARS1",
"hgvs_c": "c.1493T>C",
"hgvs_p": "p.Val498Ala",
"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": "A",
"aa_end": null,
"aa_length": 507,
"aa_ref": "V",
"aa_start": 493,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1953,
"cdna_start": 1555,
"cds_end": null,
"cds_length": 1524,
"cds_start": 1478,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000937417.1",
"gene_hgnc_id": 4816,
"gene_symbol": "HARS1",
"hgvs_c": "c.1478T>C",
"hgvs_p": "p.Val493Ala",
"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": "A",
"aa_end": null,
"aa_length": 492,
"aa_ref": "V",
"aa_start": 478,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1901,
"cdna_start": 1506,
"cds_end": null,
"cds_length": 1479,
"cds_start": 1433,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000937418.1",
"gene_hgnc_id": 4816,
"gene_symbol": "HARS1",
"hgvs_c": "c.1433T>C",
"hgvs_p": "p.Val478Ala",
"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": "A",
"aa_end": null,
"aa_length": 489,
"aa_ref": "V",
"aa_start": 475,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1888,
"cdna_start": 1490,
"cds_end": null,
"cds_length": 1470,
"cds_start": 1424,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001258041.3",
"gene_hgnc_id": 4816,
"gene_symbol": "HARS1",
"hgvs_c": "c.1424T>C",
"hgvs_p": "p.Val475Ala",
"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": "A",
"aa_end": null,
"aa_length": 489,
"aa_ref": "V",
"aa_start": 475,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1898,
"cdna_start": 1501,
"cds_end": null,
"cds_length": 1470,
"cds_start": 1424,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000942725.1",
"gene_hgnc_id": 4816,
"gene_symbol": "HARS1",
"hgvs_c": "c.1424T>C",
"hgvs_p": "p.Val475Ala",
"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": "A",
"aa_end": null,
"aa_length": 480,
"aa_ref": "V",
"aa_start": 466,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1861,
"cdna_start": 1463,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1397,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001289094.2",
"gene_hgnc_id": 4816,
"gene_symbol": "HARS1",
"hgvs_c": "c.1397T>C",
"hgvs_p": "p.Val466Ala",
"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": "A",
"aa_end": null,
"aa_length": 473,
"aa_ref": "V",
"aa_start": 459,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2729,
"cdna_start": 1461,
"cds_end": null,
"cds_length": 1422,
"cds_start": 1376,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000676327.1",
"gene_hgnc_id": 4816,
"gene_symbol": "HARS1",
"hgvs_c": "c.1376T>C",
"hgvs_p": "p.Val459Ala",
"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": "A",
"aa_end": null,
"aa_length": 470,
"aa_ref": "V",
"aa_start": 456,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2746,
"cdna_start": 1478,
"cds_end": null,
"cds_length": 1413,
"cds_start": 1367,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000675366.1",
"gene_hgnc_id": 4816,
"gene_symbol": "HARS1",
"hgvs_c": "c.1367T>C",
"hgvs_p": "p.Val456Ala",
"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": "A",
"aa_end": null,
"aa_length": 469,
"aa_ref": "V",
"aa_start": 455,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1828,
"cdna_start": 1430,
"cds_end": null,
"cds_length": 1410,
"cds_start": 1364,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001258040.3",
"gene_hgnc_id": 4816,
"gene_symbol": "HARS1",
"hgvs_c": "c.1364T>C",
"hgvs_p": "p.Val455Ala",
"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": "A",
"aa_end": null,
"aa_length": 469,
"aa_ref": "V",
"aa_start": 455,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1789,
"cdna_start": 1401,
"cds_end": null,
"cds_length": 1410,
"cds_start": 1364,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000438307.6",
"gene_hgnc_id": 4816,
"gene_symbol": "HARS1",
"hgvs_c": "c.1364T>C",
"hgvs_p": "p.Val455Ala",
"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": "A",
"aa_end": null,
"aa_length": 467,
"aa_ref": "V",
"aa_start": 453,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1822,
"cdna_start": 1424,
"cds_end": null,
"cds_length": 1404,
"cds_start": 1358,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000937419.1",
"gene_hgnc_id": 4816,
"gene_symbol": "HARS1",
"hgvs_c": "c.1358T>C",
"hgvs_p": "p.Val453Ala",
"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": "A",
"aa_end": null,
"aa_length": 449,
"aa_ref": "V",
"aa_start": 435,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1768,
"cdna_start": 1370,
"cds_end": null,
"cds_length": 1350,
"cds_start": 1304,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001258042.3",
"gene_hgnc_id": 4816,
"gene_symbol": "HARS1",
"hgvs_c": "c.1304T>C",
"hgvs_p": "p.Val435Ala",
"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": "A",
"aa_end": null,
"aa_length": 449,
"aa_ref": "V",
"aa_start": 435,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1780,
"cdna_start": 1383,
"cds_end": null,
"cds_length": 1350,
"cds_start": 1304,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000307633.7",
"gene_hgnc_id": 4816,
"gene_symbol": "HARS1",
"hgvs_c": "c.1304T>C",
"hgvs_p": "p.Val435Ala",
"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": "A",
"aa_end": null,
"aa_length": 440,
"aa_ref": "V",
"aa_start": 426,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2595,
"cdna_start": 1327,
"cds_end": null,
"cds_length": 1323,
"cds_start": 1277,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000675698.1",
"gene_hgnc_id": 4816,
"gene_symbol": "HARS1",
"hgvs_c": "c.1277T>C",
"hgvs_p": "p.Val426Ala",
"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": "A",
"aa_end": null,
"aa_length": 438,
"aa_ref": "V",
"aa_start": 424,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1804,
"cdna_start": 1313,
"cds_end": null,
"cds_length": 1317,
"cds_start": 1271,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000937415.1",
"gene_hgnc_id": 4816,
"gene_symbol": "HARS1",
"hgvs_c": "c.1271T>C",
"hgvs_p": "p.Val424Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607474.1",
"strand": false,
"transcript": "ENST00000937415.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 435,
"aa_ref": "V",
"aa_start": 421,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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}