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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: 5-171392785-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=171392785&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 171392785,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000296930.10",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPM1",
"gene_hgnc_id": 7910,
"hgvs_c": "c.428C>G",
"hgvs_p": "p.Ser143Cys",
"transcript": "NM_002520.7",
"protein_id": "NP_002511.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 294,
"cds_start": 428,
"cds_end": null,
"cds_length": 885,
"cdna_start": 528,
"cdna_end": null,
"cdna_length": 1320,
"mane_select": "ENST00000296930.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPM1",
"gene_hgnc_id": 7910,
"hgvs_c": "c.428C>G",
"hgvs_p": "p.Ser143Cys",
"transcript": "ENST00000296930.10",
"protein_id": "ENSP00000296930.5",
"transcript_support_level": 1,
"aa_start": 143,
"aa_end": null,
"aa_length": 294,
"cds_start": 428,
"cds_end": null,
"cds_length": 885,
"cdna_start": 528,
"cdna_end": null,
"cdna_length": 1320,
"mane_select": "NM_002520.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPM1",
"gene_hgnc_id": 7910,
"hgvs_c": "c.428C>G",
"hgvs_p": "p.Ser143Cys",
"transcript": "ENST00000517671.5",
"protein_id": "ENSP00000428755.1",
"transcript_support_level": 1,
"aa_start": 143,
"aa_end": null,
"aa_length": 294,
"cds_start": 428,
"cds_end": null,
"cds_length": 885,
"cdna_start": 563,
"cdna_end": null,
"cdna_length": 1338,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPM1",
"gene_hgnc_id": 7910,
"hgvs_c": "c.428C>G",
"hgvs_p": "p.Ser143Cys",
"transcript": "ENST00000351986.10",
"protein_id": "ENSP00000341168.6",
"transcript_support_level": 1,
"aa_start": 143,
"aa_end": null,
"aa_length": 265,
"cds_start": 428,
"cds_end": null,
"cds_length": 798,
"cdna_start": 548,
"cdna_end": null,
"cdna_length": 1237,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPM1",
"gene_hgnc_id": 7910,
"hgvs_c": "c.428C>G",
"hgvs_p": "p.Ser143Cys",
"transcript": "ENST00000393820.2",
"protein_id": "ENSP00000377408.2",
"transcript_support_level": 1,
"aa_start": 143,
"aa_end": null,
"aa_length": 259,
"cds_start": 428,
"cds_end": null,
"cds_length": 780,
"cdna_start": 526,
"cdna_end": null,
"cdna_length": 1598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPM1",
"gene_hgnc_id": 7910,
"hgvs_c": "c.428C>G",
"hgvs_p": "p.Ser143Cys",
"transcript": "ENST00000676589.1",
"protein_id": "ENSP00000503283.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 323,
"cds_start": 428,
"cds_end": null,
"cds_length": 972,
"cdna_start": 546,
"cdna_end": null,
"cdna_length": 1338,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPM1",
"gene_hgnc_id": 7910,
"hgvs_c": "c.428C>G",
"hgvs_p": "p.Ser143Cys",
"transcript": "ENST00000677357.1",
"protein_id": "ENSP00000504740.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 305,
"cds_start": 428,
"cds_end": null,
"cds_length": 918,
"cdna_start": 534,
"cdna_end": null,
"cdna_length": 1346,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPM1",
"gene_hgnc_id": 7910,
"hgvs_c": "c.428C>G",
"hgvs_p": "p.Ser143Cys",
"transcript": "NM_001355006.2",
"protein_id": "NP_001341935.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 294,
"cds_start": 428,
"cds_end": null,
"cds_length": 885,
"cdna_start": 563,
"cdna_end": null,
"cdna_length": 1355,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPM1",
"gene_hgnc_id": 7910,
"hgvs_c": "c.428C>G",
"hgvs_p": "p.Ser143Cys",
"transcript": "NM_199185.4",
"protein_id": "NP_954654.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 265,
"cds_start": 428,
"cds_end": null,
"cds_length": 798,
"cdna_start": 528,
"cdna_end": null,
"cdna_length": 1233,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPM1",
"gene_hgnc_id": 7910,
"hgvs_c": "c.428C>G",
"hgvs_p": "p.Ser143Cys",
"transcript": "NM_001037738.3",
"protein_id": "NP_001032827.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 259,
"cds_start": 428,
"cds_end": null,
"cds_length": 780,
"cdna_start": 528,
"cdna_end": null,
"cdna_length": 1600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPM1",
"gene_hgnc_id": 7910,
"hgvs_c": "c.236C>G",
"hgvs_p": "p.Ser79Cys",
"transcript": "NM_001355007.2",
"protein_id": "NP_001341936.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 230,
"cds_start": 236,
"cds_end": null,
"cds_length": 693,
"cdna_start": 448,
"cdna_end": null,
"cdna_length": 1240,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPM1",
"gene_hgnc_id": 7910,
"hgvs_c": "c.428C>G",
"hgvs_p": "p.Ser143Cys",
"transcript": "NM_001355009.2",
"protein_id": "NP_001341938.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 230,
"cds_start": 428,
"cds_end": null,
"cds_length": 693,
"cdna_start": 528,
"cdna_end": null,
"cdna_length": 1513,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPM1",
"gene_hgnc_id": 7910,
"hgvs_c": "c.236C>G",
"hgvs_p": "p.Ser79Cys",
"transcript": "ENST00000521672.6",
"protein_id": "ENSP00000429485.2",
"transcript_support_level": 5,
"aa_start": 79,
"aa_end": null,
"aa_length": 230,
"cds_start": 236,
"cds_end": null,
"cds_length": 693,
"cdna_start": 498,
"cdna_end": null,
"cdna_length": 1263,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPM1",
"gene_hgnc_id": 7910,
"hgvs_c": "c.236C>G",
"hgvs_p": "p.Ser79Cys",
"transcript": "ENST00000677325.1",
"protein_id": "ENSP00000503781.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 230,
"cds_start": 236,
"cds_end": null,
"cds_length": 693,
"cdna_start": 556,
"cdna_end": null,
"cdna_length": 2258,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPM1",
"gene_hgnc_id": 7910,
"hgvs_c": "c.236C>G",
"hgvs_p": "p.Ser79Cys",
"transcript": "ENST00000677907.1",
"protein_id": "ENSP00000504308.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 201,
"cds_start": 236,
"cds_end": null,
"cds_length": 606,
"cdna_start": 532,
"cdna_end": null,
"cdna_length": 1335,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPM1",
"gene_hgnc_id": 7910,
"hgvs_c": "c.428C>G",
"hgvs_p": "p.Ser143Cys",
"transcript": "ENST00000679233.1",
"protein_id": "ENSP00000503717.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 195,
"cds_start": 428,
"cds_end": null,
"cds_length": 588,
"cdna_start": 534,
"cdna_end": null,
"cdna_length": 1072,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPM1",
"gene_hgnc_id": 7910,
"hgvs_c": "c.134C>G",
"hgvs_p": "p.Ser45Cys",
"transcript": "NM_001355010.2",
"protein_id": "NP_001341939.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 167,
"cds_start": 134,
"cds_end": null,
"cds_length": 504,
"cdna_start": 234,
"cdna_end": null,
"cdna_length": 939,
"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": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPM1",
"gene_hgnc_id": 7910,
"hgvs_c": "n.525C>G",
"hgvs_p": null,
"transcript": "ENST00000518587.2",
"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": 1382,
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPM1",
"gene_hgnc_id": 7910,
"hgvs_c": "n.806C>G",
"hgvs_p": null,
"transcript": "ENST00000521260.2",
"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,
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"cdna_length": 1571,
"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": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPM1",
"gene_hgnc_id": 7910,
"hgvs_c": "n.546C>G",
"hgvs_p": null,
"transcript": "ENST00000676504.1",
"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": 1936,
"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": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPM1",
"gene_hgnc_id": 7910,
"hgvs_c": "n.428C>G",
"hgvs_p": null,
"transcript": "ENST00000676613.1",
"protein_id": "ENSP00000503767.1",
"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": 2676,
"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": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPM1",
"gene_hgnc_id": 7910,
"hgvs_c": "n.549C>G",
"hgvs_p": null,
"transcript": "ENST00000676625.1",
"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": 3605,
"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": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPM1",
"gene_hgnc_id": 7910,
"hgvs_c": "n.550C>G",
"hgvs_p": null,
"transcript": "ENST00000677467.1",
"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,
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],
"clinvar_disease": "not specified",
"clinvar_classification": "not provided",
"clinvar_review_status": "no classification provided",
"clinvar_submissions_summary": "O:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "not provided",
"custom_annotations": null
}
],
"message": null
}