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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: 22-18913491-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=18913491&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"PM5",
"BP4_Strong",
"BP6_Very_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PRODH",
"hgnc_id": 9453,
"hgvs_c": "c.1562G>A",
"hgvs_p": "p.Arg521Gln",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -10,
"transcript": "NM_016335.6",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000283809",
"hgnc_id": null,
"hgvs_c": "c.513+2463C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "ENST00000638240.1",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong"
],
"effects": [
"3_prime_UTR_variant"
],
"gene_symbol": "DGCR6",
"hgnc_id": 2846,
"hgvs_c": "c.*1802C>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "ENST00000881231.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "PM5,BP4_Strong,BP6_Very_Strong",
"acmg_score": -10,
"allele_count_reference_population": 63,
"alphamissense_prediction": null,
"alphamissense_score": 0.0582,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.57,
"chr": "22",
"clinvar_classification": "Benign",
"clinvar_disease": "Proline dehydrogenase deficiency,Schizophrenia 4,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:4",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.000026020017685368657,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 600,
"aa_ref": "R",
"aa_start": 521,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2203,
"cdna_start": 1568,
"cds_end": null,
"cds_length": 1803,
"cds_start": 1562,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_016335.6",
"gene_hgnc_id": 9453,
"gene_symbol": "PRODH",
"hgvs_c": "c.1562G>A",
"hgvs_p": "p.Arg521Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000357068.11",
"protein_coding": true,
"protein_id": "NP_057419.5",
"strand": false,
"transcript": "NM_016335.6",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 600,
"aa_ref": "R",
"aa_start": 521,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2203,
"cdna_start": 1568,
"cds_end": null,
"cds_length": 1803,
"cds_start": 1562,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000357068.11",
"gene_hgnc_id": 9453,
"gene_symbol": "PRODH",
"hgvs_c": "c.1562G>A",
"hgvs_p": "p.Arg521Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_016335.6",
"protein_coding": true,
"protein_id": "ENSP00000349577.6",
"strand": false,
"transcript": "ENST00000357068.11",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 600,
"aa_ref": "R",
"aa_start": 521,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2405,
"cdna_start": 1766,
"cds_end": null,
"cds_length": 1803,
"cds_start": 1562,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000610940.4",
"gene_hgnc_id": 9453,
"gene_symbol": "PRODH",
"hgvs_c": "c.1562G>A",
"hgvs_p": "p.Arg521Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000480347.1",
"strand": false,
"transcript": "ENST00000610940.4",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 492,
"aa_ref": "R",
"aa_start": 413,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1985,
"cdna_start": 1351,
"cds_end": null,
"cds_length": 1479,
"cds_start": 1238,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000334029.6",
"gene_hgnc_id": 9453,
"gene_symbol": "PRODH",
"hgvs_c": "c.1238G>A",
"hgvs_p": "p.Arg413Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000334726.2",
"strand": false,
"transcript": "ENST00000334029.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 180,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1669,
"cdna_start": null,
"cds_end": null,
"cds_length": 543,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000638240.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000283809",
"hgvs_c": "c.513+2463C>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000492446.1",
"strand": true,
"transcript": "ENST00000638240.1",
"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": 4676,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000482858.5",
"gene_hgnc_id": 9453,
"gene_symbol": "PRODH",
"hgvs_c": "n.4042G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000482858.5",
"transcript_support_level": 1
},
{
"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": 3106,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000491604.5",
"gene_hgnc_id": 9453,
"gene_symbol": "PRODH",
"hgvs_c": "n.2471G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000491604.5",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 655,
"aa_ref": "R",
"aa_start": 576,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2378,
"cdna_start": 1745,
"cds_end": null,
"cds_length": 1968,
"cds_start": 1727,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000916124.1",
"gene_hgnc_id": 9453,
"gene_symbol": "PRODH",
"hgvs_c": "c.1727G>A",
"hgvs_p": "p.Arg576Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586183.1",
"strand": false,
"transcript": "ENST00000916124.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 607,
"aa_ref": "R",
"aa_start": 528,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2247,
"cdna_start": 1605,
"cds_end": null,
"cds_length": 1824,
"cds_start": 1583,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000881003.1",
"gene_hgnc_id": 9453,
"gene_symbol": "PRODH",
"hgvs_c": "c.1583G>A",
"hgvs_p": "p.Arg528Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551062.1",
"strand": false,
"transcript": "ENST00000881003.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 605,
"aa_ref": "R",
"aa_start": 526,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2218,
"cdna_start": 1583,
"cds_end": null,
"cds_length": 1818,
"cds_start": 1577,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000881004.1",
"gene_hgnc_id": 9453,
"gene_symbol": "PRODH",
"hgvs_c": "c.1577G>A",
"hgvs_p": "p.Arg526Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551063.1",
"strand": false,
"transcript": "ENST00000881004.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 598,
"aa_ref": "R",
"aa_start": 519,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2192,
"cdna_start": 1559,
"cds_end": null,
"cds_length": 1797,
"cds_start": 1556,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000881005.1",
"gene_hgnc_id": 9453,
"gene_symbol": "PRODH",
"hgvs_c": "c.1556G>A",
"hgvs_p": "p.Arg519Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551064.1",
"strand": false,
"transcript": "ENST00000881005.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 583,
"aa_ref": "R",
"aa_start": 504,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2185,
"cdna_start": 1550,
"cds_end": null,
"cds_length": 1752,
"cds_start": 1511,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000881001.1",
"gene_hgnc_id": 9453,
"gene_symbol": "PRODH",
"hgvs_c": "c.1511G>A",
"hgvs_p": "p.Arg504Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551060.1",
"strand": false,
"transcript": "ENST00000881001.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 561,
"aa_ref": "R",
"aa_start": 482,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2116,
"cdna_start": 1482,
"cds_end": null,
"cds_length": 1686,
"cds_start": 1445,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000881002.1",
"gene_hgnc_id": 9453,
"gene_symbol": "PRODH",
"hgvs_c": "c.1445G>A",
"hgvs_p": "p.Arg482Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551061.1",
"strand": false,
"transcript": "ENST00000881002.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 551,
"aa_ref": "R",
"aa_start": 472,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2055,
"cdna_start": 1421,
"cds_end": null,
"cds_length": 1656,
"cds_start": 1415,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000965629.1",
"gene_hgnc_id": 9453,
"gene_symbol": "PRODH",
"hgvs_c": "c.1415G>A",
"hgvs_p": "p.Arg472Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635688.1",
"strand": false,
"transcript": "ENST00000965629.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 546,
"aa_ref": "R",
"aa_start": 467,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2039,
"cdna_start": 1405,
"cds_end": null,
"cds_length": 1641,
"cds_start": 1400,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000916125.1",
"gene_hgnc_id": 9453,
"gene_symbol": "PRODH",
"hgvs_c": "c.1400G>A",
"hgvs_p": "p.Arg467Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586184.1",
"strand": false,
"transcript": "ENST00000916125.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 492,
"aa_ref": "R",
"aa_start": 413,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2088,
"cdna_start": 1453,
"cds_end": null,
"cds_length": 1479,
"cds_start": 1238,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001195226.2",
"gene_hgnc_id": 9453,
"gene_symbol": "PRODH",
"hgvs_c": "c.1238G>A",
"hgvs_p": "p.Arg413Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001182155.2",
"strand": false,
"transcript": "NM_001195226.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 492,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2048,
"cdna_start": 1413,
"cds_end": null,
"cds_length": 1479,
"cds_start": 1238,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001368250.2",
"gene_hgnc_id": 9453,
"gene_symbol": "PRODH",
"hgvs_c": "c.1238G>A",
"hgvs_p": "p.Arg413Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001355179.2",
"strand": false,
"transcript": "NM_001368250.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 492,
"aa_ref": "R",
"aa_start": 413,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2034,
"cdna_start": 1399,
"cds_end": null,
"cds_length": 1479,
"cds_start": 1238,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000420436.5",
"gene_hgnc_id": 9453,
"gene_symbol": "PRODH",
"hgvs_c": "c.1238G>A",
"hgvs_p": "p.Arg413Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000410805.1",
"strand": false,
"transcript": "ENST00000420436.5",
"transcript_support_level": 2
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 484,
"aa_ref": "R",
"aa_start": 405,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1852,
"cdna_start": 1220,
"cds_end": null,
"cds_length": 1455,
"cds_start": 1214,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000916126.1",
"gene_hgnc_id": 9453,
"gene_symbol": "PRODH",
"hgvs_c": "c.1214G>A",
"hgvs_p": "p.Arg405Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586185.1",
"strand": false,
"transcript": "ENST00000916126.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 455,
"aa_ref": "R",
"aa_start": 376,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1767,
"cdna_start": 1133,
"cds_end": null,
"cds_length": 1368,
"cds_start": 1127,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000965628.1",
"gene_hgnc_id": 9453,
"gene_symbol": "PRODH",
"hgvs_c": "c.1127G>A",
"hgvs_p": "p.Arg376Gln",
"intron_rank": null,
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}