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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: 2-27364525-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=27364525&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 27364525,
"ref": "G",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000347454.9",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B4",
"gene_hgnc_id": 3260,
"hgvs_c": "c.1447C>A",
"hgvs_p": "p.Arg483Arg",
"transcript": "NM_001034116.2",
"protein_id": "NP_001029288.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 523,
"cds_start": 1447,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 1471,
"cdna_end": null,
"cdna_length": 1644,
"mane_select": "ENST00000347454.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B4",
"gene_hgnc_id": 3260,
"hgvs_c": "c.1447C>A",
"hgvs_p": "p.Arg483Arg",
"transcript": "ENST00000347454.9",
"protein_id": "ENSP00000233552.6",
"transcript_support_level": 1,
"aa_start": 483,
"aa_end": null,
"aa_length": 523,
"cds_start": 1447,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 1471,
"cdna_end": null,
"cdna_length": 1644,
"mane_select": "NM_001034116.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B4",
"gene_hgnc_id": 3260,
"hgvs_c": "c.1507C>A",
"hgvs_p": "p.Arg503Arg",
"transcript": "ENST00000451130.6",
"protein_id": "ENSP00000394869.2",
"transcript_support_level": 1,
"aa_start": 503,
"aa_end": null,
"aa_length": 543,
"cds_start": 1507,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 1507,
"cdna_end": null,
"cdna_length": 1633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B4",
"gene_hgnc_id": 3260,
"hgvs_c": "c.1444C>A",
"hgvs_p": "p.Arg482Arg",
"transcript": "ENST00000445933.6",
"protein_id": "ENSP00000394397.2",
"transcript_support_level": 1,
"aa_start": 482,
"aa_end": null,
"aa_length": 522,
"cds_start": 1444,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 1464,
"cdna_end": null,
"cdna_length": 1608,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B4",
"gene_hgnc_id": 3260,
"hgvs_c": "n.*713C>A",
"hgvs_p": null,
"transcript": "ENST00000405940.6",
"protein_id": "ENSP00000384375.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B4",
"gene_hgnc_id": 3260,
"hgvs_c": "n.*713C>A",
"hgvs_p": null,
"transcript": "ENST00000405940.6",
"protein_id": "ENSP00000384375.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B4",
"gene_hgnc_id": 3260,
"hgvs_c": "c.1510C>A",
"hgvs_p": "p.Arg504Arg",
"transcript": "NM_001318965.2",
"protein_id": "NP_001305894.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 544,
"cds_start": 1510,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 1522,
"cdna_end": null,
"cdna_length": 1695,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B4",
"gene_hgnc_id": 3260,
"hgvs_c": "c.1510C>A",
"hgvs_p": "p.Arg504Arg",
"transcript": "ENST00000493344.6",
"protein_id": "ENSP00000429323.1",
"transcript_support_level": 5,
"aa_start": 504,
"aa_end": null,
"aa_length": 544,
"cds_start": 1510,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 1823,
"cdna_end": null,
"cdna_length": 1949,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B4",
"gene_hgnc_id": 3260,
"hgvs_c": "c.1507C>A",
"hgvs_p": "p.Arg503Arg",
"transcript": "NM_172195.4",
"protein_id": "NP_751945.2",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 543,
"cds_start": 1507,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 1519,
"cdna_end": null,
"cdna_length": 1692,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B4",
"gene_hgnc_id": 3260,
"hgvs_c": "c.1444C>A",
"hgvs_p": "p.Arg482Arg",
"transcript": "NM_015636.4",
"protein_id": "NP_056451.3",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 522,
"cds_start": 1444,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 1468,
"cdna_end": null,
"cdna_length": 1641,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B4",
"gene_hgnc_id": 3260,
"hgvs_c": "c.1402C>A",
"hgvs_p": "p.Arg468Arg",
"transcript": "NM_001318966.2",
"protein_id": "NP_001305895.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 508,
"cds_start": 1402,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 1649,
"cdna_end": null,
"cdna_length": 1822,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B4",
"gene_hgnc_id": 3260,
"hgvs_c": "c.1354C>A",
"hgvs_p": "p.Arg452Arg",
"transcript": "NM_001318967.2",
"protein_id": "NP_001305896.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 492,
"cds_start": 1354,
"cds_end": null,
"cds_length": 1479,
"cdna_start": 1464,
"cdna_end": null,
"cdna_length": 1637,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B4",
"gene_hgnc_id": 3260,
"hgvs_c": "c.862C>A",
"hgvs_p": "p.Arg288Arg",
"transcript": "NM_001318968.2",
"protein_id": "NP_001305897.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 328,
"cds_start": 862,
"cds_end": null,
"cds_length": 987,
"cdna_start": 1452,
"cdna_end": null,
"cdna_length": 1625,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B4",
"gene_hgnc_id": 3260,
"hgvs_c": "c.829C>A",
"hgvs_p": "p.Arg277Arg",
"transcript": "NM_001318969.2",
"protein_id": "NP_001305898.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 317,
"cds_start": 829,
"cds_end": null,
"cds_length": 954,
"cdna_start": 1445,
"cdna_end": null,
"cdna_length": 1618,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B4",
"gene_hgnc_id": 3260,
"hgvs_c": "n.440C>A",
"hgvs_p": null,
"transcript": "ENST00000478311.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 607,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GTF3C2-AS2",
"gene_hgnc_id": 55699,
"hgvs_c": "n.238-2899G>T",
"hgvs_p": null,
"transcript": "ENST00000412749.2",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 695,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GTF3C2-AS2",
"gene_hgnc_id": 55699,
"hgvs_c": "n.303-2899G>T",
"hgvs_p": null,
"transcript": "ENST00000847761.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 759,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GTF3C2-AS2",
"gene_hgnc_id": 55699,
"hgvs_c": "n.1746-2899G>T",
"hgvs_p": null,
"transcript": "NR_183825.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2202,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GTF3C2-AS2",
"gene_hgnc_id": 55699,
"hgvs_c": "n.669-2899G>T",
"hgvs_p": null,
"transcript": "NR_183826.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1125,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GTF3C2-AS2",
"gene_hgnc_id": 55699,
"hgvs_c": "n.764-2899G>T",
"hgvs_p": null,
"transcript": "NR_183827.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1220,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GTF3C2-AS2",
"gene_hgnc_id": 55699,
"hgvs_c": "n.93-552G>T",
"hgvs_p": null,
"transcript": "NR_183828.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 900,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GTF3C2-AS2",
"gene_hgnc_id": 55699,
"hgvs_c": "n.905-2899G>T",
"hgvs_p": null,
"transcript": "NR_183831.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1361,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GTF3C2-AS2",
"gene_hgnc_id": 55699,
"hgvs_c": "n.825-552G>T",
"hgvs_p": null,
"transcript": "NR_183832.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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{
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"verdict": "Uncertain_significance",
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{
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],
"clinvar_disease": "",
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"clinvar_review_status": "",
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"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}