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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: 17-74862864-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=74862864&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 74862864,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001258012.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.1429G>C",
"hgvs_p": "p.Glu477Gln",
"transcript": "NM_024417.5",
"protein_id": "NP_077728.3",
"transcript_support_level": null,
"aa_start": 477,
"aa_end": null,
"aa_length": 491,
"cds_start": 1429,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000293195.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024417.5"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.1429G>C",
"hgvs_p": "p.Glu477Gln",
"transcript": "ENST00000293195.10",
"protein_id": "ENSP00000293195.5",
"transcript_support_level": 1,
"aa_start": 477,
"aa_end": null,
"aa_length": 491,
"cds_start": 1429,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024417.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000293195.10"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.1447G>C",
"hgvs_p": "p.Glu483Gln",
"transcript": "ENST00000581530.5",
"protein_id": "ENSP00000462972.1",
"transcript_support_level": 1,
"aa_start": 483,
"aa_end": null,
"aa_length": 497,
"cds_start": 1447,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000581530.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "n.2117G>C",
"hgvs_p": null,
"transcript": "ENST00000578473.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000578473.5"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.1576G>C",
"hgvs_p": "p.Glu526Gln",
"transcript": "ENST00000933581.1",
"protein_id": "ENSP00000603640.1",
"transcript_support_level": null,
"aa_start": 526,
"aa_end": null,
"aa_length": 540,
"cds_start": 1576,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933581.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.1558G>C",
"hgvs_p": "p.Glu520Gln",
"transcript": "NM_001258012.4",
"protein_id": "NP_001244941.2",
"transcript_support_level": null,
"aa_start": 520,
"aa_end": null,
"aa_length": 534,
"cds_start": 1558,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001258012.4"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.1558G>C",
"hgvs_p": "p.Glu520Gln",
"transcript": "ENST00000442102.6",
"protein_id": "ENSP00000416515.2",
"transcript_support_level": 2,
"aa_start": 520,
"aa_end": null,
"aa_length": 534,
"cds_start": 1558,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000442102.6"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.1525G>C",
"hgvs_p": "p.Glu509Gln",
"transcript": "ENST00000946597.1",
"protein_id": "ENSP00000616656.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 523,
"cds_start": 1525,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946597.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.1522G>C",
"hgvs_p": "p.Glu508Gln",
"transcript": "NM_001258013.4",
"protein_id": "NP_001244942.2",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 522,
"cds_start": 1522,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001258013.4"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.1522G>C",
"hgvs_p": "p.Glu508Gln",
"transcript": "ENST00000413947.6",
"protein_id": "ENSP00000408595.2",
"transcript_support_level": 2,
"aa_start": 508,
"aa_end": null,
"aa_length": 522,
"cds_start": 1522,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000413947.6"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.1513G>C",
"hgvs_p": "p.Glu505Gln",
"transcript": "ENST00000946595.1",
"protein_id": "ENSP00000616654.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 519,
"cds_start": 1513,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946595.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.1507G>C",
"hgvs_p": "p.Glu503Gln",
"transcript": "ENST00000946589.1",
"protein_id": "ENSP00000616648.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 517,
"cds_start": 1507,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946589.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.1477G>C",
"hgvs_p": "p.Glu493Gln",
"transcript": "ENST00000946592.1",
"protein_id": "ENSP00000616651.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 507,
"cds_start": 1477,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946592.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.1459G>C",
"hgvs_p": "p.Glu487Gln",
"transcript": "ENST00000933578.1",
"protein_id": "ENSP00000603637.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 501,
"cds_start": 1459,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933578.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.1450G>C",
"hgvs_p": "p.Glu484Gln",
"transcript": "ENST00000868980.1",
"protein_id": "ENSP00000539039.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 498,
"cds_start": 1450,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868980.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.1447G>C",
"hgvs_p": "p.Glu483Gln",
"transcript": "NM_004110.6",
"protein_id": "NP_004101.3",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 497,
"cds_start": 1447,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004110.6"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.1435G>C",
"hgvs_p": "p.Glu479Gln",
"transcript": "ENST00000946596.1",
"protein_id": "ENSP00000616655.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 493,
"cds_start": 1435,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946596.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.1432G>C",
"hgvs_p": "p.Glu478Gln",
"transcript": "ENST00000868974.1",
"protein_id": "ENSP00000539033.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 492,
"cds_start": 1432,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868974.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.1426G>C",
"hgvs_p": "p.Glu476Gln",
"transcript": "ENST00000868979.1",
"protein_id": "ENSP00000539038.1",
"transcript_support_level": null,
"aa_start": 476,
"aa_end": null,
"aa_length": 490,
"cds_start": 1426,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868979.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.1426G>C",
"hgvs_p": "p.Glu476Gln",
"transcript": "ENST00000933576.1",
"protein_id": "ENSP00000603635.1",
"transcript_support_level": null,
"aa_start": 476,
"aa_end": null,
"aa_length": 490,
"cds_start": 1426,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933576.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.1423G>C",
"hgvs_p": "p.Glu475Gln",
"transcript": "ENST00000868978.1",
"protein_id": "ENSP00000539037.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 489,
"cds_start": 1423,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868978.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.1420G>C",
"hgvs_p": "p.Glu474Gln",
"transcript": "ENST00000933579.1",
"protein_id": "ENSP00000603638.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 488,
"cds_start": 1420,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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{
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{
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000583881.5"
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],
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"dbsnp": "rs997026784",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84585e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
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"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5451459288597107,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.163,
"revel_prediction": "Benign",
"alphamissense_score": 0.328,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.32,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.072,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
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"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001258012.4",
"gene_symbol": "FDXR",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
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"hgvs_p": "p.Glu520Gln"
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}