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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: 9-137110716-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=137110716&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 137110716,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001438108.1",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"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": "DPP7",
"gene_hgnc_id": 14892,
"hgvs_c": "c.1411G>A",
"hgvs_p": "p.Glu471Lys",
"transcript": "NM_013379.3",
"protein_id": "NP_037511.2",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 492,
"cds_start": 1411,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000371579.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013379.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"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": "DPP7",
"gene_hgnc_id": 14892,
"hgvs_c": "c.1411G>A",
"hgvs_p": "p.Glu471Lys",
"transcript": "ENST00000371579.7",
"protein_id": "ENSP00000360635.2",
"transcript_support_level": 1,
"aa_start": 471,
"aa_end": null,
"aa_length": 492,
"cds_start": 1411,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_013379.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371579.7"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "DPP7",
"gene_hgnc_id": 14892,
"hgvs_c": "c.1549G>A",
"hgvs_p": "p.Glu517Lys",
"transcript": "ENST00000894946.1",
"protein_id": "ENSP00000565005.1",
"transcript_support_level": null,
"aa_start": 517,
"aa_end": null,
"aa_length": 538,
"cds_start": 1549,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894946.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "DPP7",
"gene_hgnc_id": 14892,
"hgvs_c": "c.1498G>A",
"hgvs_p": "p.Glu500Lys",
"transcript": "ENST00000894945.1",
"protein_id": "ENSP00000565004.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 521,
"cds_start": 1498,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894945.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "DPP7",
"gene_hgnc_id": 14892,
"hgvs_c": "c.1477G>A",
"hgvs_p": "p.Glu493Lys",
"transcript": "NM_001438108.1",
"protein_id": "NP_001425037.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 514,
"cds_start": 1477,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438108.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP7",
"gene_hgnc_id": 14892,
"hgvs_c": "c.1435G>A",
"hgvs_p": "p.Glu479Lys",
"transcript": "ENST00000894950.1",
"protein_id": "ENSP00000565009.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 500,
"cds_start": 1435,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894950.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "DPP7",
"gene_hgnc_id": 14892,
"hgvs_c": "c.1408G>A",
"hgvs_p": "p.Glu470Lys",
"transcript": "ENST00000894947.1",
"protein_id": "ENSP00000565006.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 491,
"cds_start": 1408,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894947.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "DPP7",
"gene_hgnc_id": 14892,
"hgvs_c": "c.1396G>A",
"hgvs_p": "p.Glu466Lys",
"transcript": "ENST00000718335.1",
"protein_id": "ENSP00000520772.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 487,
"cds_start": 1396,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000718335.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "DPP7",
"gene_hgnc_id": 14892,
"hgvs_c": "c.1393G>A",
"hgvs_p": "p.Glu465Lys",
"transcript": "ENST00000894943.1",
"protein_id": "ENSP00000565002.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 486,
"cds_start": 1393,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894943.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "DPP7",
"gene_hgnc_id": 14892,
"hgvs_c": "c.1390G>A",
"hgvs_p": "p.Glu464Lys",
"transcript": "ENST00000960840.1",
"protein_id": "ENSP00000630899.1",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 485,
"cds_start": 1390,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960840.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "DPP7",
"gene_hgnc_id": 14892,
"hgvs_c": "c.1378G>A",
"hgvs_p": "p.Glu460Lys",
"transcript": "ENST00000960841.1",
"protein_id": "ENSP00000630900.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 481,
"cds_start": 1378,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960841.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "DPP7",
"gene_hgnc_id": 14892,
"hgvs_c": "c.1375G>A",
"hgvs_p": "p.Glu459Lys",
"transcript": "ENST00000894944.1",
"protein_id": "ENSP00000565003.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 480,
"cds_start": 1375,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894944.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "DPP7",
"gene_hgnc_id": 14892,
"hgvs_c": "c.1375G>A",
"hgvs_p": "p.Glu459Lys",
"transcript": "ENST00000894948.1",
"protein_id": "ENSP00000565007.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 480,
"cds_start": 1375,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894948.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "DPP7",
"gene_hgnc_id": 14892,
"hgvs_c": "c.1372G>A",
"hgvs_p": "p.Glu458Lys",
"transcript": "ENST00000960839.1",
"protein_id": "ENSP00000630898.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 479,
"cds_start": 1372,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960839.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "DPP7",
"gene_hgnc_id": 14892,
"hgvs_c": "c.1339G>A",
"hgvs_p": "p.Glu447Lys",
"transcript": "ENST00000894949.1",
"protein_id": "ENSP00000565008.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 468,
"cds_start": 1339,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894949.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "DPP7",
"gene_hgnc_id": 14892,
"hgvs_c": "c.1387G>A",
"hgvs_p": "p.Glu463Lys",
"transcript": "XM_011518600.2",
"protein_id": "XP_011516902.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 484,
"cds_start": 1387,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011518600.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "DPP7",
"gene_hgnc_id": 14892,
"hgvs_c": "c.1267G>A",
"hgvs_p": "p.Glu423Lys",
"transcript": "XM_047423280.1",
"protein_id": "XP_047279236.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 444,
"cds_start": 1267,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423280.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "DPP7",
"gene_hgnc_id": 14892,
"hgvs_c": "c.1177G>A",
"hgvs_p": "p.Glu393Lys",
"transcript": "XM_047423281.1",
"protein_id": "XP_047279237.1",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 414,
"cds_start": 1177,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423281.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP7",
"gene_hgnc_id": 14892,
"hgvs_c": "c.*32G>A",
"hgvs_p": null,
"transcript": "NM_001438109.1",
"protein_id": "NP_001425038.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 458,
"cds_start": null,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438109.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"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": "DPP7",
"gene_hgnc_id": 14892,
"hgvs_c": "c.*32G>A",
"hgvs_p": null,
"transcript": "NM_001438110.1",
"protein_id": "NP_001425039.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 436,
"cds_start": null,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438110.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"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": "DPP7",
"gene_hgnc_id": 14892,
"hgvs_c": "c.*32G>A",
"hgvs_p": null,
"transcript": "ENST00000718334.1",
"protein_id": "ENSP00000520771.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 436,
"cds_start": null,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000718334.1"
},
{
"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": "DPP7",
"gene_hgnc_id": 14892,
"hgvs_c": "n.1964G>A",
"hgvs_p": null,
"transcript": "ENST00000460830.2",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000460830.2"
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"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}