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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: 17-74866471-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=74866471&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 74866471,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001258012.4",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.368A>C",
"hgvs_p": "p.Gln123Pro",
"transcript": "NM_024417.5",
"protein_id": "NP_077728.3",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 491,
"cds_start": 368,
"cds_end": null,
"cds_length": 1476,
"cdna_start": 418,
"cdna_end": null,
"cdna_length": 1846,
"mane_select": "ENST00000293195.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024417.5"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.368A>C",
"hgvs_p": "p.Gln123Pro",
"transcript": "ENST00000293195.10",
"protein_id": "ENSP00000293195.5",
"transcript_support_level": 1,
"aa_start": 123,
"aa_end": null,
"aa_length": 491,
"cds_start": 368,
"cds_end": null,
"cds_length": 1476,
"cdna_start": 418,
"cdna_end": null,
"cdna_length": 1846,
"mane_select": "NM_024417.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000293195.10"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.368A>C",
"hgvs_p": "p.Gln123Pro",
"transcript": "ENST00000581530.5",
"protein_id": "ENSP00000462972.1",
"transcript_support_level": 1,
"aa_start": 123,
"aa_end": null,
"aa_length": 497,
"cds_start": 368,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 385,
"cdna_end": null,
"cdna_length": 1827,
"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": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "n.1056A>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": 2482,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000578473.5"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.497A>C",
"hgvs_p": "p.Gln166Pro",
"transcript": "ENST00000933581.1",
"protein_id": "ENSP00000603640.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 540,
"cds_start": 497,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 527,
"cdna_end": null,
"cdna_length": 1973,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933581.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.497A>C",
"hgvs_p": "p.Gln166Pro",
"transcript": "NM_001258012.4",
"protein_id": "NP_001244941.2",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 534,
"cds_start": 497,
"cds_end": null,
"cds_length": 1605,
"cdna_start": 547,
"cdna_end": null,
"cdna_length": 1975,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001258012.4"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.497A>C",
"hgvs_p": "p.Gln166Pro",
"transcript": "ENST00000442102.6",
"protein_id": "ENSP00000416515.2",
"transcript_support_level": 2,
"aa_start": 166,
"aa_end": null,
"aa_length": 534,
"cds_start": 497,
"cds_end": null,
"cds_length": 1605,
"cdna_start": 584,
"cdna_end": null,
"cdna_length": 1967,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000442102.6"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.464A>C",
"hgvs_p": "p.Gln155Pro",
"transcript": "ENST00000946597.1",
"protein_id": "ENSP00000616656.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 523,
"cds_start": 464,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 488,
"cdna_end": null,
"cdna_length": 1915,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946597.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.461A>C",
"hgvs_p": "p.Gln154Pro",
"transcript": "NM_001258013.4",
"protein_id": "NP_001244942.2",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 522,
"cds_start": 461,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 511,
"cdna_end": null,
"cdna_length": 1939,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001258013.4"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.461A>C",
"hgvs_p": "p.Gln154Pro",
"transcript": "ENST00000413947.6",
"protein_id": "ENSP00000408595.2",
"transcript_support_level": 2,
"aa_start": 154,
"aa_end": null,
"aa_length": 522,
"cds_start": 461,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 493,
"cdna_end": null,
"cdna_length": 1809,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000413947.6"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.368A>C",
"hgvs_p": "p.Gln123Pro",
"transcript": "ENST00000946595.1",
"protein_id": "ENSP00000616654.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 519,
"cds_start": 368,
"cds_end": null,
"cds_length": 1560,
"cdna_start": 398,
"cdna_end": null,
"cdna_length": 1909,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946595.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.446A>C",
"hgvs_p": "p.Gln149Pro",
"transcript": "ENST00000946589.1",
"protein_id": "ENSP00000616648.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 517,
"cds_start": 446,
"cds_end": null,
"cds_length": 1554,
"cdna_start": 501,
"cdna_end": null,
"cdna_length": 1925,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946589.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.416A>C",
"hgvs_p": "p.Gln139Pro",
"transcript": "ENST00000946592.1",
"protein_id": "ENSP00000616651.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 507,
"cds_start": 416,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 464,
"cdna_end": null,
"cdna_length": 1888,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946592.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.368A>C",
"hgvs_p": "p.Gln123Pro",
"transcript": "ENST00000933578.1",
"protein_id": "ENSP00000603637.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 501,
"cds_start": 368,
"cds_end": null,
"cds_length": 1506,
"cdna_start": 418,
"cdna_end": null,
"cdna_length": 1876,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933578.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.371A>C",
"hgvs_p": "p.Gln124Pro",
"transcript": "ENST00000868980.1",
"protein_id": "ENSP00000539039.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 498,
"cds_start": 371,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 401,
"cdna_end": null,
"cdna_length": 1845,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868980.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.368A>C",
"hgvs_p": "p.Gln123Pro",
"transcript": "NM_004110.6",
"protein_id": "NP_004101.3",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 497,
"cds_start": 368,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 418,
"cdna_end": null,
"cdna_length": 1864,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004110.6"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.371A>C",
"hgvs_p": "p.Gln124Pro",
"transcript": "ENST00000868974.1",
"protein_id": "ENSP00000539033.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 492,
"cds_start": 371,
"cds_end": null,
"cds_length": 1479,
"cdna_start": 466,
"cdna_end": null,
"cdna_length": 1895,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868974.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.365A>C",
"hgvs_p": "p.Gln122Pro",
"transcript": "ENST00000868979.1",
"protein_id": "ENSP00000539038.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 490,
"cds_start": 365,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 405,
"cdna_end": null,
"cdna_length": 1833,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868979.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.368A>C",
"hgvs_p": "p.Gln123Pro",
"transcript": "ENST00000933576.1",
"protein_id": "ENSP00000603635.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 490,
"cds_start": 368,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 445,
"cdna_end": null,
"cdna_length": 1872,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933576.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.362A>C",
"hgvs_p": "p.Gln121Pro",
"transcript": "ENST00000868978.1",
"protein_id": "ENSP00000539037.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 489,
"cds_start": 362,
"cds_end": null,
"cds_length": 1470,
"cdna_start": 410,
"cdna_end": null,
"cdna_length": 1838,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868978.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.359A>C",
"hgvs_p": "p.Gln120Pro",
"transcript": "ENST00000933579.1",
"protein_id": "ENSP00000603638.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 488,
"cds_start": 359,
"cds_end": null,
"cds_length": 1467,
"cdna_start": 409,
"cdna_end": null,
"cdna_length": 1837,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933579.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDXR",
"gene_hgnc_id": 3642,
"hgvs_c": "c.368A>C",
"hgvs_p": "p.Gln123Pro",
"transcript": "ENST00000946594.1",
"protein_id": "ENSP00000616653.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 487,
"cds_start": 368,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 416,
"cdna_end": null,
"cdna_length": 1827,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946594.1"
},
{
"aa_ref": "Q",
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}
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}