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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: 1-200666422-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=200666422&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 200666422,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000331314.11",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.319A>G",
"hgvs_p": "p.Ile107Val",
"transcript": "NM_001031725.6",
"protein_id": "NP_001026895.2",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 619,
"cds_start": 319,
"cds_end": null,
"cds_length": 1860,
"cdna_start": 471,
"cdna_end": null,
"cdna_length": 2229,
"mane_select": "ENST00000331314.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.319A>G",
"hgvs_p": "p.Ile107Val",
"transcript": "ENST00000331314.11",
"protein_id": "ENSP00000330460.6",
"transcript_support_level": 1,
"aa_start": 107,
"aa_end": null,
"aa_length": 619,
"cds_start": 319,
"cds_end": null,
"cds_length": 1860,
"cdna_start": 471,
"cdna_end": null,
"cdna_length": 2229,
"mane_select": "NM_001031725.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.319A>G",
"hgvs_p": "p.Ile107Val",
"transcript": "NM_001349799.3",
"protein_id": "NP_001336728.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 619,
"cds_start": 319,
"cds_end": null,
"cds_length": 1860,
"cdna_start": 500,
"cdna_end": null,
"cdna_length": 2258,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.319A>G",
"hgvs_p": "p.Ile107Val",
"transcript": "NM_001349800.3",
"protein_id": "NP_001336729.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 619,
"cds_start": 319,
"cds_end": null,
"cds_length": 1860,
"cdna_start": 425,
"cdna_end": null,
"cdna_length": 2183,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.319A>G",
"hgvs_p": "p.Ile107Val",
"transcript": "ENST00000447706.6",
"protein_id": "ENSP00000394367.2",
"transcript_support_level": 2,
"aa_start": 107,
"aa_end": null,
"aa_length": 580,
"cds_start": 319,
"cds_end": null,
"cds_length": 1743,
"cdna_start": 471,
"cdna_end": null,
"cdna_length": 2900,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.319A>G",
"hgvs_p": "p.Ile107Val",
"transcript": "NM_001349801.3",
"protein_id": "NP_001336730.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 576,
"cds_start": 319,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 471,
"cdna_end": null,
"cdna_length": 2100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.319A>G",
"hgvs_p": "p.Ile107Val",
"transcript": "NM_001320181.2",
"protein_id": "NP_001307110.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 567,
"cds_start": 319,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 471,
"cdna_end": null,
"cdna_length": 2200,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.319A>G",
"hgvs_p": "p.Ile107Val",
"transcript": "NM_001349802.3",
"protein_id": "NP_001336731.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 557,
"cds_start": 319,
"cds_end": null,
"cds_length": 1674,
"cdna_start": 471,
"cdna_end": null,
"cdna_length": 2129,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.319A>G",
"hgvs_p": "p.Ile107Val",
"transcript": "NM_001349803.3",
"protein_id": "NP_001336732.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 535,
"cds_start": 319,
"cds_end": null,
"cds_length": 1608,
"cdna_start": 471,
"cdna_end": null,
"cdna_length": 1977,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.319A>G",
"hgvs_p": "p.Ile107Val",
"transcript": "NM_001320182.1",
"protein_id": "NP_001307111.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 505,
"cds_start": 319,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 330,
"cdna_end": null,
"cdna_length": 1746,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.319A>G",
"hgvs_p": "p.Ile107Val",
"transcript": "NM_001349804.2",
"protein_id": "NP_001336733.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 441,
"cds_start": 319,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 471,
"cdna_end": null,
"cdna_length": 1695,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
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"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.319A>G",
"hgvs_p": "p.Ile107Val",
"transcript": "ENST00000436897.1",
"protein_id": "ENSP00000391312.1",
"transcript_support_level": 3,
"aa_start": 107,
"aa_end": null,
"aa_length": 159,
"cds_start": 319,
"cds_end": null,
"cds_length": 482,
"cdna_start": 472,
"cdna_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.319A>G",
"hgvs_p": "p.Ile107Val",
"transcript": "XM_017002432.3",
"protein_id": "XP_016857921.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
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"cds_start": 319,
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"cdna_start": 1892,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
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"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.319A>G",
"hgvs_p": "p.Ile107Val",
"transcript": "XM_047431458.1",
"protein_id": "XP_047287414.1",
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"feature": null
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 2,
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"exon_count": 7,
"intron_rank": null,
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"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.319A>G",
"hgvs_p": "p.Ile107Val",
"transcript": "XM_047431459.1",
"protein_id": "XP_047287415.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 576,
"cds_start": 319,
"cds_end": null,
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"cdna_start": 500,
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"cdna_length": 2129,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
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"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.319A>G",
"hgvs_p": "p.Ile107Val",
"transcript": "XM_047431461.1",
"protein_id": "XP_047287417.1",
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"feature": null
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 2,
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"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.319A>G",
"hgvs_p": "p.Ile107Val",
"transcript": "XM_047431466.1",
"protein_id": "XP_047287422.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
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"cds_start": 319,
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"cdna_start": 500,
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"cdna_length": 2006,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.319A>G",
"hgvs_p": "p.Ile107Val",
"transcript": "XM_047431468.1",
"protein_id": "XP_047287424.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 492,
"cds_start": 319,
"cds_end": null,
"cds_length": 1479,
"cdna_start": 471,
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"cdna_length": 1848,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "I",
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"strand": false,
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],
"exon_rank": 2,
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"intron_rank": null,
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"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.319A>G",
"hgvs_p": "p.Ile107Val",
"transcript": "XM_047431471.1",
"protein_id": "XP_047287427.1",
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},
{
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"protein_coding": true,
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"consequences": [
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],
"exon_rank": 2,
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"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.319A>G",
"hgvs_p": "p.Ile107Val",
"transcript": "XM_047431472.1",
"protein_id": "XP_047287428.1",
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"aa_end": null,
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"cds_start": 319,
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"mane_select": null,
"mane_plus": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
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"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.319A>G",
"hgvs_p": "p.Ile107Val",
"transcript": "XM_047431475.1",
"protein_id": "XP_047287431.1",
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"aa_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.319A>G",
"hgvs_p": "p.Ile107Val",
"transcript": "XM_047431477.1",
"protein_id": "XP_047287433.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 400,
"cds_start": 319,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 471,
"cdna_end": null,
"cdna_length": 1454,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.319A>G",
"hgvs_p": "p.Ile107Val",
"transcript": "XM_047431480.1",
"protein_id": "XP_047287436.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 395,
"cds_start": 319,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 471,
"cdna_end": null,
"cdna_length": 1412,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"dbsnp": "rs3795634",
"frequency_reference_population": 0.08494502,
"hom_count_reference_population": 10390,
"allele_count_reference_population": 137105,
"gnomad_exomes_af": 0.081461,
"gnomad_genomes_af": 0.118414,
"gnomad_exomes_ac": 119085,
"gnomad_genomes_ac": 18020,
"gnomad_exomes_homalt": 8841,
"gnomad_genomes_homalt": 1549,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.004608899354934692,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.11,
"revel_prediction": "Benign",
"alphamissense_score": 0.0474,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.69,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.755,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000331314.11",
"gene_symbol": "DDX59",
"hgnc_id": 25360,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.319A>G",
"hgvs_p": "p.Ile107Val"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}