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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: 1-200648515-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=200648515&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "DDX59",
"hgnc_id": 25360,
"hgvs_c": "c.1520G>A",
"hgvs_p": "p.Arg507Gln",
"inheritance_mode": "AR",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_001031725.6",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 45,
"alphamissense_prediction": null,
"alphamissense_score": 0.7204,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.36,
"chr": "1",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Inborn genetic diseases",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8824468851089478,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 619,
"aa_ref": "R",
"aa_start": 507,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2229,
"cdna_start": 1672,
"cds_end": null,
"cds_length": 1860,
"cds_start": 1520,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001031725.6",
"gene_hgnc_id": 25360,
"gene_symbol": "DDX59",
"hgvs_c": "c.1520G>A",
"hgvs_p": "p.Arg507Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000331314.11",
"protein_coding": true,
"protein_id": "NP_001026895.2",
"strand": false,
"transcript": "NM_001031725.6",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 619,
"aa_ref": "R",
"aa_start": 507,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2229,
"cdna_start": 1672,
"cds_end": null,
"cds_length": 1860,
"cds_start": 1520,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000331314.11",
"gene_hgnc_id": 25360,
"gene_symbol": "DDX59",
"hgvs_c": "c.1520G>A",
"hgvs_p": "p.Arg507Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001031725.6",
"protein_coding": true,
"protein_id": "ENSP00000330460.6",
"strand": false,
"transcript": "ENST00000331314.11",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 619,
"aa_ref": "R",
"aa_start": 507,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2258,
"cdna_start": 1701,
"cds_end": null,
"cds_length": 1860,
"cds_start": 1520,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001349799.3",
"gene_hgnc_id": 25360,
"gene_symbol": "DDX59",
"hgvs_c": "c.1520G>A",
"hgvs_p": "p.Arg507Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336728.1",
"strand": false,
"transcript": "NM_001349799.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 619,
"aa_ref": "R",
"aa_start": 507,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2183,
"cdna_start": 1626,
"cds_end": null,
"cds_length": 1860,
"cds_start": 1520,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001349800.3",
"gene_hgnc_id": 25360,
"gene_symbol": "DDX59",
"hgvs_c": "c.1520G>A",
"hgvs_p": "p.Arg507Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336729.1",
"strand": false,
"transcript": "NM_001349800.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 619,
"aa_ref": "R",
"aa_start": 507,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3194,
"cdna_start": 2640,
"cds_end": null,
"cds_length": 1860,
"cds_start": 1520,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000936161.1",
"gene_hgnc_id": 25360,
"gene_symbol": "DDX59",
"hgvs_c": "c.1520G>A",
"hgvs_p": "p.Arg507Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606220.1",
"strand": false,
"transcript": "ENST00000936161.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 619,
"aa_ref": "R",
"aa_start": 507,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2137,
"cdna_start": 1581,
"cds_end": null,
"cds_length": 1860,
"cds_start": 1520,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000936162.1",
"gene_hgnc_id": 25360,
"gene_symbol": "DDX59",
"hgvs_c": "c.1520G>A",
"hgvs_p": "p.Arg507Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606221.1",
"strand": false,
"transcript": "ENST00000936162.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 619,
"aa_ref": "R",
"aa_start": 507,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2896,
"cdna_start": 2284,
"cds_end": null,
"cds_length": 1860,
"cds_start": 1520,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000958771.1",
"gene_hgnc_id": 25360,
"gene_symbol": "DDX59",
"hgvs_c": "c.1520G>A",
"hgvs_p": "p.Arg507Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628830.1",
"strand": false,
"transcript": "ENST00000958771.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 619,
"aa_ref": "R",
"aa_start": 507,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3088,
"cdna_start": 2533,
"cds_end": null,
"cds_length": 1860,
"cds_start": 1520,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000958772.1",
"gene_hgnc_id": 25360,
"gene_symbol": "DDX59",
"hgvs_c": "c.1520G>A",
"hgvs_p": "p.Arg507Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628831.1",
"strand": false,
"transcript": "ENST00000958772.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 619,
"aa_ref": "R",
"aa_start": 507,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4070,
"cdna_start": 3519,
"cds_end": null,
"cds_length": 1860,
"cds_start": 1520,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000958776.1",
"gene_hgnc_id": 25360,
"gene_symbol": "DDX59",
"hgvs_c": "c.1520G>A",
"hgvs_p": "p.Arg507Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628835.1",
"strand": false,
"transcript": "ENST00000958776.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 619,
"aa_ref": "R",
"aa_start": 507,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2867,
"cdna_start": 2312,
"cds_end": null,
"cds_length": 1860,
"cds_start": 1520,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000958777.1",
"gene_hgnc_id": 25360,
"gene_symbol": "DDX59",
"hgvs_c": "c.1520G>A",
"hgvs_p": "p.Arg507Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628836.1",
"strand": false,
"transcript": "ENST00000958777.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 597,
"aa_ref": "R",
"aa_start": 485,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2202,
"cdna_start": 1645,
"cds_end": null,
"cds_length": 1794,
"cds_start": 1454,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000886517.1",
"gene_hgnc_id": 25360,
"gene_symbol": "DDX59",
"hgvs_c": "c.1454G>A",
"hgvs_p": "p.Arg485Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556576.1",
"strand": false,
"transcript": "ENST00000886517.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 597,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2888,
"cdna_start": 2418,
"cds_end": null,
"cds_length": 1794,
"cds_start": 1454,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000958774.1",
"gene_hgnc_id": 25360,
"gene_symbol": "DDX59",
"hgvs_c": "c.1454G>A",
"hgvs_p": "p.Arg485Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628833.1",
"strand": false,
"transcript": "ENST00000958774.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2189,
"cdna_start": 1632,
"cds_end": null,
"cds_length": 1785,
"cds_start": 1445,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000936159.1",
"gene_hgnc_id": 25360,
"gene_symbol": "DDX59",
"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": "ENSP00000606218.1",
"strand": false,
"transcript": "ENST00000936159.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 589,
"aa_ref": "R",
"aa_start": 477,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2216,
"cdna_start": 1659,
"cds_end": null,
"cds_length": 1770,
"cds_start": 1430,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000886516.1",
"gene_hgnc_id": 25360,
"gene_symbol": "DDX59",
"hgvs_c": "c.1430G>A",
"hgvs_p": "p.Arg477Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556575.1",
"strand": false,
"transcript": "ENST00000886516.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 580,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2900,
"cdna_start": 1672,
"cds_end": null,
"cds_length": 1743,
"cds_start": 1520,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000447706.6",
"gene_hgnc_id": 25360,
"gene_symbol": "DDX59",
"hgvs_c": "c.1520G>A",
"hgvs_p": "p.Arg507Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000394367.2",
"strand": false,
"transcript": "ENST00000447706.6",
"transcript_support_level": 2
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 567,
"aa_ref": "R",
"aa_start": 507,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2200,
"cdna_start": 1672,
"cds_end": null,
"cds_length": 1704,
"cds_start": 1520,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001320181.2",
"gene_hgnc_id": 25360,
"gene_symbol": "DDX59",
"hgvs_c": "c.1520G>A",
"hgvs_p": "p.Arg507Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307110.1",
"strand": false,
"transcript": "NM_001320181.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 557,
"aa_ref": "R",
"aa_start": 507,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2129,
"cdna_start": 1672,
"cds_end": null,
"cds_length": 1674,
"cds_start": 1520,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001349802.3",
"gene_hgnc_id": 25360,
"gene_symbol": "DDX59",
"hgvs_c": "c.1520G>A",
"hgvs_p": "p.Arg507Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336731.1",
"strand": false,
"transcript": "NM_001349802.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 535,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1977,
"cdna_start": 1420,
"cds_end": null,
"cds_length": 1608,
"cds_start": 1268,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001349803.3",
"gene_hgnc_id": 25360,
"gene_symbol": "DDX59",
"hgvs_c": "c.1268G>A",
"hgvs_p": "p.Arg423Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336732.1",
"strand": false,
"transcript": "NM_001349803.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 1922,
"cdna_start": 1453,
"cds_end": null,
"cds_length": 1608,
"cds_start": 1268,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000886518.1",
"gene_hgnc_id": 25360,
"gene_symbol": "DDX59",
"hgvs_c": "c.1268G>A",
"hgvs_p": "p.Arg423Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556577.1",
"strand": false,
"transcript": "ENST00000886518.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 535,
"aa_ref": "R",
"aa_start": 423,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2130,
"cdna_start": 1660,
"cds_end": null,
"cds_length": 1608,
"cds_start": 1268,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000958778.1",
"gene_hgnc_id": 25360,
"gene_symbol": "DDX59",
"hgvs_c": "c.1268G>A",
"hgvs_p": "p.Arg423Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628837.1",
"strand": false,
"transcript": "ENST00000958778.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 505,
"aa_ref": "R",
"aa_start": 393,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1746,
"cdna_start": 1189,
"cds_end": null,
"cds_length": 1518,
"cds_start": 1178,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001320182.1",
"gene_hgnc_id": 25360,
"gene_symbol": "DDX59",
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