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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: 6-116437084-T-TGGG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=116437084&ref=T&alt=TGGG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PM4_Supporting"
],
"effects": [
"disruptive_inframe_insertion"
],
"gene_symbol": "DSE",
"hgnc_id": 21144,
"hgvs_c": "c.2676_2678dupGGG",
"hgvs_p": "p.Gly893dup",
"inheritance_mode": "AR",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_001322939.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000285446",
"hgnc_id": null,
"hgvs_c": "c.766+5894_766+5896dupGGG",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "ENST00000644499.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PM4_Supporting",
"acmg_score": 3,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TGGG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "6",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "GG",
"aa_end": null,
"aa_length": 958,
"aa_ref": "G",
"aa_start": 874,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10621,
"cdna_start": 2850,
"cds_end": null,
"cds_length": 2877,
"cds_start": 2622,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_013352.4",
"gene_hgnc_id": 21144,
"gene_symbol": "DSE",
"hgvs_c": "c.2619_2621dupGGG",
"hgvs_p": "p.Gly874dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000644252.3",
"protein_coding": true,
"protein_id": "NP_037484.1",
"strand": true,
"transcript": "NM_013352.4",
"transcript_support_level": null
},
{
"aa_alt": "GG",
"aa_end": null,
"aa_length": 958,
"aa_ref": "G",
"aa_start": 874,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 10621,
"cdna_start": 2850,
"cds_end": null,
"cds_length": 2877,
"cds_start": 2622,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000644252.3",
"gene_hgnc_id": 21144,
"gene_symbol": "DSE",
"hgvs_c": "c.2619_2621dupGGG",
"hgvs_p": "p.Gly874dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_013352.4",
"protein_coding": true,
"protein_id": "ENSP00000494147.2",
"strand": true,
"transcript": "ENST00000644252.3",
"transcript_support_level": null
},
{
"aa_alt": "GG",
"aa_end": null,
"aa_length": 958,
"aa_ref": "G",
"aa_start": 874,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10586,
"cdna_start": 2816,
"cds_end": null,
"cds_length": 2877,
"cds_start": 2622,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000452085.7",
"gene_hgnc_id": 21144,
"gene_symbol": "DSE",
"hgvs_c": "c.2619_2621dupGGG",
"hgvs_p": "p.Gly874dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000404049.2",
"strand": true,
"transcript": "ENST00000452085.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 308,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3692,
"cdna_start": null,
"cds_end": null,
"cds_length": 927,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000359564.3",
"gene_hgnc_id": 21144,
"gene_symbol": "DSE",
"hgvs_c": "c.*1484_*1486dupGGG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000352567.3",
"strand": true,
"transcript": "ENST00000359564.3",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 282,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1180,
"cdna_start": null,
"cds_end": null,
"cds_length": 849,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000644499.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000285446",
"hgvs_c": "c.766+5894_766+5896dupGGG",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495266.1",
"strand": true,
"transcript": "ENST00000644499.1",
"transcript_support_level": null
},
{
"aa_alt": "GG",
"aa_end": null,
"aa_length": 977,
"aa_ref": "G",
"aa_start": 893,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10555,
"cdna_start": 2784,
"cds_end": null,
"cds_length": 2934,
"cds_start": 2679,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001322939.2",
"gene_hgnc_id": 21144,
"gene_symbol": "DSE",
"hgvs_c": "c.2676_2678dupGGG",
"hgvs_p": "p.Gly893dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001309868.1",
"strand": true,
"transcript": "NM_001322939.2",
"transcript_support_level": null
},
{
"aa_alt": "GG",
"aa_end": null,
"aa_length": 965,
"aa_ref": "G",
"aa_start": 881,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4061,
"cdna_start": 2743,
"cds_end": null,
"cds_length": 2898,
"cds_start": 2643,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000931461.1",
"gene_hgnc_id": 21144,
"gene_symbol": "DSE",
"hgvs_c": "c.2640_2642dupGGG",
"hgvs_p": "p.Gly881dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601520.1",
"strand": true,
"transcript": "ENST00000931461.1",
"transcript_support_level": null
},
{
"aa_alt": "GG",
"aa_end": null,
"aa_length": 958,
"aa_ref": "G",
"aa_start": 874,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10621,
"cdna_start": 2850,
"cds_end": null,
"cds_length": 2877,
"cds_start": 2622,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001080976.3",
"gene_hgnc_id": 21144,
"gene_symbol": "DSE",
"hgvs_c": "c.2619_2621dupGGG",
"hgvs_p": "p.Gly874dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001074445.1",
"strand": true,
"transcript": "NM_001080976.3",
"transcript_support_level": null
},
{
"aa_alt": "GG",
"aa_end": null,
"aa_length": 958,
"aa_ref": "G",
"aa_start": 874,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11181,
"cdna_start": 3410,
"cds_end": null,
"cds_length": 2877,
"cds_start": 2622,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001322937.2",
"gene_hgnc_id": 21144,
"gene_symbol": "DSE",
"hgvs_c": "c.2619_2621dupGGG",
"hgvs_p": "p.Gly874dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001309866.1",
"strand": true,
"transcript": "NM_001322937.2",
"transcript_support_level": null
},
{
"aa_alt": "GG",
"aa_end": null,
"aa_length": 958,
"aa_ref": "G",
"aa_start": 874,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11093,
"cdna_start": 3322,
"cds_end": null,
"cds_length": 2877,
"cds_start": 2622,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001322938.2",
"gene_hgnc_id": 21144,
"gene_symbol": "DSE",
"hgvs_c": "c.2619_2621dupGGG",
"hgvs_p": "p.Gly874dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001309867.1",
"strand": true,
"transcript": "NM_001322938.2",
"transcript_support_level": null
},
{
"aa_alt": "GG",
"aa_end": null,
"aa_length": 958,
"aa_ref": "G",
"aa_start": 874,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7237,
"cdna_start": 3066,
"cds_end": null,
"cds_length": 2877,
"cds_start": 2622,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000331677.7",
"gene_hgnc_id": 21144,
"gene_symbol": "DSE",
"hgvs_c": "c.2619_2621dupGGG",
"hgvs_p": "p.Gly874dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000332151.2",
"strand": true,
"transcript": "ENST00000331677.7",
"transcript_support_level": 5
},
{
"aa_alt": "GG",
"aa_end": null,
"aa_length": 958,
"aa_ref": "G",
"aa_start": 874,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5163,
"cdna_start": 3977,
"cds_end": null,
"cds_length": 2877,
"cds_start": 2622,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000891542.1",
"gene_hgnc_id": 21144,
"gene_symbol": "DSE",
"hgvs_c": "c.2619_2621dupGGG",
"hgvs_p": "p.Gly874dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561601.1",
"strand": true,
"transcript": "ENST00000891542.1",
"transcript_support_level": null
},
{
"aa_alt": "GG",
"aa_end": null,
"aa_length": 958,
"aa_ref": "G",
"aa_start": 874,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4661,
"cdna_start": 3475,
"cds_end": null,
"cds_length": 2877,
"cds_start": 2622,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000891543.1",
"gene_hgnc_id": 21144,
"gene_symbol": "DSE",
"hgvs_c": "c.2619_2621dupGGG",
"hgvs_p": "p.Gly874dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561602.1",
"strand": true,
"transcript": "ENST00000891543.1",
"transcript_support_level": null
},
{
"aa_alt": "GG",
"aa_end": null,
"aa_length": 958,
"aa_ref": "G",
"aa_start": 874,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4499,
"cdna_start": 3313,
"cds_end": null,
"cds_length": 2877,
"cds_start": 2622,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000891544.1",
"gene_hgnc_id": 21144,
"gene_symbol": "DSE",
"hgvs_c": "c.2619_2621dupGGG",
"hgvs_p": "p.Gly874dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561603.1",
"strand": true,
"transcript": "ENST00000891544.1",
"transcript_support_level": null
},
{
"aa_alt": "GG",
"aa_end": null,
"aa_length": 958,
"aa_ref": "G",
"aa_start": 874,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4986,
"cdna_start": 3807,
"cds_end": null,
"cds_length": 2877,
"cds_start": 2622,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000950996.1",
"gene_hgnc_id": 21144,
"gene_symbol": "DSE",
"hgvs_c": "c.2619_2621dupGGG",
"hgvs_p": "p.Gly874dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621055.1",
"strand": true,
"transcript": "ENST00000950996.1",
"transcript_support_level": null
},
{
"aa_alt": "GG",
"aa_end": null,
"aa_length": 958,
"aa_ref": "G",
"aa_start": 874,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4205,
"cdna_start": 3013,
"cds_end": null,
"cds_length": 2877,
"cds_start": 2622,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000950997.1",
"gene_hgnc_id": 21144,
"gene_symbol": "DSE",
"hgvs_c": "c.2619_2621dupGGG",
"hgvs_p": "p.Gly874dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621056.1",
"strand": true,
"transcript": "ENST00000950997.1",
"transcript_support_level": null
},
{
"aa_alt": "GG",
"aa_end": null,
"aa_length": 958,
"aa_ref": "G",
"aa_start": 874,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4224,
"cdna_start": 3037,
"cds_end": null,
"cds_length": 2877,
"cds_start": 2622,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000950998.1",
"gene_hgnc_id": 21144,
"gene_symbol": "DSE",
"hgvs_c": "c.2619_2621dupGGG",
"hgvs_p": "p.Gly874dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621057.1",
"strand": true,
"transcript": "ENST00000950998.1",
"transcript_support_level": null
},
{
"aa_alt": "GG",
"aa_end": null,
"aa_length": 958,
"aa_ref": "G",
"aa_start": 874,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4321,
"cdna_start": 3135,
"cds_end": null,
"cds_length": 2877,
"cds_start": 2622,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000950999.1",
"gene_hgnc_id": 21144,
"gene_symbol": "DSE",
"hgvs_c": "c.2619_2621dupGGG",
"hgvs_p": "p.Gly874dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621058.1",
"strand": true,
"transcript": "ENST00000950999.1",
"transcript_support_level": null
},
{
"aa_alt": "GG",
"aa_end": null,
"aa_length": 958,
"aa_ref": "G",
"aa_start": 874,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4165,
"cdna_start": 2978,
"cds_end": null,
"cds_length": 2877,
"cds_start": 2622,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000951000.1",
"gene_hgnc_id": 21144,
"gene_symbol": "DSE",
"hgvs_c": "c.2619_2621dupGGG",
"hgvs_p": "p.Gly874dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621059.1",
"strand": true,
"transcript": "ENST00000951000.1",
"transcript_support_level": null
},
{
"aa_alt": "GG",
"aa_end": null,
"aa_length": 771,
"aa_ref": "G",
"aa_start": 687,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11177,
"cdna_start": 3406,
"cds_end": null,
"cds_length": 2316,
"cds_start": 2061,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001322940.2",
"gene_hgnc_id": 21144,
"gene_symbol": "DSE",
"hgvs_c": "c.2058_2060dupGGG",
"hgvs_p": "p.Gly687dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001309869.1",
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