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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: 5-171392927-TTGC-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=171392927&ref=TTGC&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 171392927,
"ref": "TTGC",
"alt": "T",
"effect": "disruptive_inframe_deletion",
"transcript": "NM_002520.7",
"consequences": [
{
"aa_ref": "AD",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPM1",
"gene_hgnc_id": 7910,
"hgvs_c": "c.479_481delCTG",
"hgvs_p": "p.Ala160del",
"transcript": "NM_002520.7",
"protein_id": "NP_002511.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 294,
"cds_start": 479,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000296930.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002520.7"
},
{
"aa_ref": "AD",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPM1",
"gene_hgnc_id": 7910,
"hgvs_c": "c.479_481delCTG",
"hgvs_p": "p.Ala160del",
"transcript": "ENST00000296930.10",
"protein_id": "ENSP00000296930.5",
"transcript_support_level": 1,
"aa_start": 160,
"aa_end": null,
"aa_length": 294,
"cds_start": 479,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002520.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000296930.10"
},
{
"aa_ref": "AD",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPM1",
"gene_hgnc_id": 7910,
"hgvs_c": "c.479_481delCTG",
"hgvs_p": "p.Ala160del",
"transcript": "ENST00000517671.5",
"protein_id": "ENSP00000428755.1",
"transcript_support_level": 1,
"aa_start": 160,
"aa_end": null,
"aa_length": 294,
"cds_start": 479,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000517671.5"
},
{
"aa_ref": "AD",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPM1",
"gene_hgnc_id": 7910,
"hgvs_c": "c.479_481delCTG",
"hgvs_p": "p.Ala160del",
"transcript": "ENST00000351986.10",
"protein_id": "ENSP00000341168.6",
"transcript_support_level": 1,
"aa_start": 160,
"aa_end": null,
"aa_length": 265,
"cds_start": 479,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000351986.10"
},
{
"aa_ref": "AD",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPM1",
"gene_hgnc_id": 7910,
"hgvs_c": "c.479_481delCTG",
"hgvs_p": "p.Ala160del",
"transcript": "ENST00000393820.2",
"protein_id": "ENSP00000377408.2",
"transcript_support_level": 1,
"aa_start": 160,
"aa_end": null,
"aa_length": 259,
"cds_start": 479,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393820.2"
},
{
"aa_ref": "AD",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"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.479_481delCTG",
"hgvs_p": "p.Ala160del",
"transcript": "ENST00000676589.1",
"protein_id": "ENSP00000503283.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 323,
"cds_start": 479,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676589.1"
},
{
"aa_ref": "AD",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"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.479_481delCTG",
"hgvs_p": "p.Ala160del",
"transcript": "ENST00000677357.1",
"protein_id": "ENSP00000504740.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 305,
"cds_start": 479,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677357.1"
},
{
"aa_ref": "AD",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"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.479_481delCTG",
"hgvs_p": "p.Ala160del",
"transcript": "ENST00000964720.1",
"protein_id": "ENSP00000634779.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 300,
"cds_start": 479,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964720.1"
},
{
"aa_ref": "AD",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPM1",
"gene_hgnc_id": 7910,
"hgvs_c": "c.479_481delCTG",
"hgvs_p": "p.Ala160del",
"transcript": "NM_001355006.2",
"protein_id": "NP_001341935.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 294,
"cds_start": 479,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001355006.2"
},
{
"aa_ref": "AD",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPM1",
"gene_hgnc_id": 7910,
"hgvs_c": "c.479_481delCTG",
"hgvs_p": "p.Ala160del",
"transcript": "ENST00000867397.1",
"protein_id": "ENSP00000537456.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 294,
"cds_start": 479,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867397.1"
},
{
"aa_ref": "AD",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPM1",
"gene_hgnc_id": 7910,
"hgvs_c": "c.479_481delCTG",
"hgvs_p": "p.Ala160del",
"transcript": "ENST00000923456.1",
"protein_id": "ENSP00000593515.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 294,
"cds_start": 479,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923456.1"
},
{
"aa_ref": "AD",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPM1",
"gene_hgnc_id": 7910,
"hgvs_c": "c.479_481delCTG",
"hgvs_p": "p.Ala160del",
"transcript": "ENST00000923457.1",
"protein_id": "ENSP00000593516.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 294,
"cds_start": 479,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923457.1"
},
{
"aa_ref": "AD",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPM1",
"gene_hgnc_id": 7910,
"hgvs_c": "c.479_481delCTG",
"hgvs_p": "p.Ala160del",
"transcript": "ENST00000923458.1",
"protein_id": "ENSP00000593517.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 294,
"cds_start": 479,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923458.1"
},
{
"aa_ref": "AD",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPM1",
"gene_hgnc_id": 7910,
"hgvs_c": "c.479_481delCTG",
"hgvs_p": "p.Ala160del",
"transcript": "ENST00000923459.1",
"protein_id": "ENSP00000593518.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 294,
"cds_start": 479,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923459.1"
},
{
"aa_ref": "AD",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPM1",
"gene_hgnc_id": 7910,
"hgvs_c": "c.479_481delCTG",
"hgvs_p": "p.Ala160del",
"transcript": "ENST00000923460.1",
"protein_id": "ENSP00000593519.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 294,
"cds_start": 479,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923460.1"
},
{
"aa_ref": "AD",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPM1",
"gene_hgnc_id": 7910,
"hgvs_c": "c.479_481delCTG",
"hgvs_p": "p.Ala160del",
"transcript": "ENST00000923461.1",
"protein_id": "ENSP00000593520.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 294,
"cds_start": 479,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923461.1"
},
{
"aa_ref": "AD",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPM1",
"gene_hgnc_id": 7910,
"hgvs_c": "c.479_481delCTG",
"hgvs_p": "p.Ala160del",
"transcript": "ENST00000923462.1",
"protein_id": "ENSP00000593521.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 294,
"cds_start": 479,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923462.1"
},
{
"aa_ref": "AD",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPM1",
"gene_hgnc_id": 7910,
"hgvs_c": "c.479_481delCTG",
"hgvs_p": "p.Ala160del",
"transcript": "ENST00000923463.1",
"protein_id": "ENSP00000593522.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 294,
"cds_start": 479,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923463.1"
},
{
"aa_ref": "AD",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPM1",
"gene_hgnc_id": 7910,
"hgvs_c": "c.479_481delCTG",
"hgvs_p": "p.Ala160del",
"transcript": "ENST00000923472.1",
"protein_id": "ENSP00000593531.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 289,
"cds_start": 479,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923472.1"
},
{
"aa_ref": "AD",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPM1",
"gene_hgnc_id": 7910,
"hgvs_c": "c.479_481delCTG",
"hgvs_p": "p.Ala160del",
"transcript": "ENST00000923465.1",
"protein_id": "ENSP00000593524.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 276,
"cds_start": 479,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923465.1"
},
{
"aa_ref": "AD",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPM1",
"gene_hgnc_id": 7910,
"hgvs_c": "c.479_481delCTG",
"hgvs_p": "p.Ala160del",
"transcript": "ENST00000923474.1",
"protein_id": "ENSP00000593533.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 269,
"cds_start": 479,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923474.1"
},
{
"aa_ref": "AD",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPM1",
"gene_hgnc_id": 7910,
"hgvs_c": "c.479_481delCTG",
"hgvs_p": "p.Ala160del",
"transcript": "NM_199185.4",
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"transcript": "NR_149149.2",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "NR_149149.2"
}
],
"gene_symbol": "NPM1",
"gene_hgnc_id": 7910,
"dbsnp": "rs587778581",
"frequency_reference_population": 0.00012286431,
"hom_count_reference_population": 0,
"allele_count_reference_population": 198,
"gnomad_exomes_af": 0.000119914,
"gnomad_genomes_af": 0.000151167,
"gnomad_exomes_ac": 175,
"gnomad_genomes_ac": 23,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 1.922,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP3,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP3",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_002520.7",
"gene_symbol": "NPM1",
"hgnc_id": 7910,
"effects": [
"disruptive_inframe_deletion"
],
"inheritance_mode": "AD",
"hgvs_c": "c.479_481delCTG",
"hgvs_p": "p.Ala160del"
}
],
"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
}