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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: 14-24117358-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=24117358&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 24117358,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000446197.8",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF11",
"gene_hgnc_id": 20258,
"hgvs_c": "c.376G>A",
"hgvs_p": "p.Ala126Thr",
"transcript": "NM_025230.5",
"protein_id": "NP_079506.3",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 546,
"cds_start": 376,
"cds_end": null,
"cds_length": 1641,
"cdna_start": 1106,
"cdna_end": null,
"cdna_length": 4304,
"mane_select": "ENST00000446197.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF11",
"gene_hgnc_id": 20258,
"hgvs_c": "c.376G>A",
"hgvs_p": "p.Ala126Thr",
"transcript": "ENST00000446197.8",
"protein_id": "ENSP00000415556.4",
"transcript_support_level": 1,
"aa_start": 126,
"aa_end": null,
"aa_length": 546,
"cds_start": 376,
"cds_end": null,
"cds_length": 1641,
"cdna_start": 1106,
"cdna_end": null,
"cdna_length": 4304,
"mane_select": "NM_025230.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF11",
"gene_hgnc_id": 20258,
"hgvs_c": "c.376G>A",
"hgvs_p": "p.Ala126Thr",
"transcript": "ENST00000559115.5",
"protein_id": "ENSP00000452898.1",
"transcript_support_level": 1,
"aa_start": 126,
"aa_end": null,
"aa_length": 546,
"cds_start": 376,
"cds_end": null,
"cds_length": 1641,
"cdna_start": 726,
"cdna_end": null,
"cdna_length": 2711,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF11",
"gene_hgnc_id": 20258,
"hgvs_c": "c.141G>A",
"hgvs_p": "p.Pro47Pro",
"transcript": "ENST00000396936.5",
"protein_id": "ENSP00000380142.1",
"transcript_support_level": 1,
"aa_start": 47,
"aa_end": null,
"aa_length": 446,
"cds_start": 141,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 597,
"cdna_end": null,
"cdna_length": 2469,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF11",
"gene_hgnc_id": 20258,
"hgvs_c": "n.*137G>A",
"hgvs_p": null,
"transcript": "ENST00000326009.9",
"protein_id": "ENSP00000323680.5",
"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": 2570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF11",
"gene_hgnc_id": 20258,
"hgvs_c": "n.*137G>A",
"hgvs_p": null,
"transcript": "ENST00000557802.5",
"protein_id": "ENSP00000453462.1",
"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": 4202,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF11",
"gene_hgnc_id": 20258,
"hgvs_c": "n.*137G>A",
"hgvs_p": null,
"transcript": "ENST00000326009.9",
"protein_id": "ENSP00000323680.5",
"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": 2570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF11",
"gene_hgnc_id": 20258,
"hgvs_c": "n.*137G>A",
"hgvs_p": null,
"transcript": "ENST00000557802.5",
"protein_id": "ENSP00000453462.1",
"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": 4202,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF11",
"gene_hgnc_id": 20258,
"hgvs_c": "c.376G>A",
"hgvs_p": "p.Ala126Thr",
"transcript": "NM_001163484.2",
"protein_id": "NP_001156956.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 546,
"cds_start": 376,
"cds_end": null,
"cds_length": 1641,
"cdna_start": 576,
"cdna_end": null,
"cdna_length": 3774,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF11",
"gene_hgnc_id": 20258,
"hgvs_c": "c.298G>A",
"hgvs_p": "p.Ala100Thr",
"transcript": "NM_181357.2",
"protein_id": "NP_852002.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 520,
"cds_start": 298,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 458,
"cdna_end": null,
"cdna_length": 3656,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF11",
"gene_hgnc_id": 20258,
"hgvs_c": "c.298G>A",
"hgvs_p": "p.Ala100Thr",
"transcript": "ENST00000396941.8",
"protein_id": "ENSP00000380146.4",
"transcript_support_level": 2,
"aa_start": 100,
"aa_end": null,
"aa_length": 520,
"cds_start": 298,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 417,
"cdna_end": null,
"cdna_length": 2402,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF11",
"gene_hgnc_id": 20258,
"hgvs_c": "c.298G>A",
"hgvs_p": "p.Ala100Thr",
"transcript": "ENST00000561375.5",
"protein_id": "ENSP00000453916.1",
"transcript_support_level": 3,
"aa_start": 100,
"aa_end": null,
"aa_length": 181,
"cds_start": 298,
"cds_end": null,
"cds_length": 548,
"cdna_start": 498,
"cdna_end": null,
"cdna_length": 748,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF11",
"gene_hgnc_id": 20258,
"hgvs_c": "c.376G>A",
"hgvs_p": "p.Ala126Thr",
"transcript": "ENST00000561041.5",
"protein_id": "ENSP00000454129.1",
"transcript_support_level": 3,
"aa_start": 126,
"aa_end": null,
"aa_length": 153,
"cds_start": 376,
"cds_end": null,
"cds_length": 462,
"cdna_start": 484,
"cdna_end": null,
"cdna_length": 570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF11",
"gene_hgnc_id": 20258,
"hgvs_c": "c.298G>A",
"hgvs_p": "p.Ala100Thr",
"transcript": "ENST00000558638.5",
"protein_id": "ENSP00000453505.1",
"transcript_support_level": 4,
"aa_start": 100,
"aa_end": null,
"aa_length": 148,
"cds_start": 298,
"cds_end": null,
"cds_length": 449,
"cdna_start": 430,
"cdna_end": null,
"cdna_length": 581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF11",
"gene_hgnc_id": 20258,
"hgvs_c": "c.376G>A",
"hgvs_p": "p.Ala126Thr",
"transcript": "ENST00000559593.5",
"protein_id": "ENSP00000452915.1",
"transcript_support_level": 4,
"aa_start": 126,
"aa_end": null,
"aa_length": 141,
"cds_start": 376,
"cds_end": null,
"cds_length": 428,
"cdna_start": 523,
"cdna_end": null,
"cdna_length": 575,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF11",
"gene_hgnc_id": 20258,
"hgvs_c": "c.298G>A",
"hgvs_p": "p.Ala100Thr",
"transcript": "ENST00000561001.5",
"protein_id": "ENSP00000453678.1",
"transcript_support_level": 4,
"aa_start": 100,
"aa_end": null,
"aa_length": 127,
"cds_start": 298,
"cds_end": null,
"cds_length": 384,
"cdna_start": 459,
"cdna_end": null,
"cdna_length": 545,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF11",
"gene_hgnc_id": 20258,
"hgvs_c": "c.298G>A",
"hgvs_p": "p.Ala100Thr",
"transcript": "ENST00000560713.5",
"protein_id": "ENSP00000453208.1",
"transcript_support_level": 4,
"aa_start": 100,
"aa_end": null,
"aa_length": 115,
"cds_start": 298,
"cds_end": null,
"cds_length": 348,
"cdna_start": 493,
"cdna_end": null,
"cdna_length": 543,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF11",
"gene_hgnc_id": 20258,
"hgvs_c": "c.321G>A",
"hgvs_p": "p.Pro107Pro",
"transcript": "ENST00000560901.5",
"protein_id": "ENSP00000453132.1",
"transcript_support_level": 3,
"aa_start": 107,
"aa_end": null,
"aa_length": 144,
"cds_start": 321,
"cds_end": null,
"cds_length": 436,
"cdna_start": 488,
"cdna_end": null,
"cdna_length": 603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF11",
"gene_hgnc_id": 20258,
"hgvs_c": "c.321G>A",
"hgvs_p": "p.Pro107Pro",
"transcript": "ENST00000559382.5",
"protein_id": "ENSP00000453587.1",
"transcript_support_level": 5,
"aa_start": 107,
"aa_end": null,
"aa_length": 117,
"cds_start": 321,
"cds_end": null,
"cds_length": 356,
"cdna_start": 514,
"cdna_end": null,
"cdna_length": 549,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF11",
"gene_hgnc_id": 20258,
"hgvs_c": "n.*137G>A",
"hgvs_p": null,
"transcript": "ENST00000557888.5",
"protein_id": "ENSP00000453550.1",
"transcript_support_level": 4,
"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": 552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF11",
"gene_hgnc_id": 20258,
"hgvs_c": "n.*77G>A",
"hgvs_p": null,
"transcript": "ENST00000558706.5",
"protein_id": "ENSP00000453803.1",
"transcript_support_level": 4,
"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": 641,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF11",
"gene_hgnc_id": 20258,
"hgvs_c": "n.321G>A",
"hgvs_p": null,
"transcript": "ENST00000558914.5",
"protein_id": "ENSP00000453035.1",
"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": 2342,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF11",
"gene_hgnc_id": 20258,
"hgvs_c": "n.*77G>A",
"hgvs_p": null,
"transcript": "ENST00000559451.5",
"protein_id": "ENSP00000453184.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
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"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
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}
],
"message": null
}