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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: 22-31838822-G-GAGA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=31838822&ref=G&alt=GAGA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 31838822,
"ref": "G",
"alt": "GAGA",
"effect": "disruptive_inframe_insertion",
"transcript": "ENST00000651528.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "RD",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.2492_2493insAGA",
"hgvs_p": "p.Ser831delinsArgAsp",
"transcript": "NM_001242896.3",
"protein_id": "NP_001229825.1",
"transcript_support_level": null,
"aa_start": 831,
"aa_end": null,
"aa_length": 1603,
"cds_start": 2493,
"cds_end": null,
"cds_length": 4812,
"cdna_start": 2699,
"cdna_end": null,
"cdna_length": 6554,
"mane_select": "ENST00000651528.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "RD",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.2492_2493insAGA",
"hgvs_p": "p.Ser831delinsArgAsp",
"transcript": "ENST00000651528.2",
"protein_id": "ENSP00000498382.1",
"transcript_support_level": null,
"aa_start": 831,
"aa_end": null,
"aa_length": 1603,
"cds_start": 2493,
"cds_end": null,
"cds_length": 4812,
"cdna_start": 2699,
"cdna_end": null,
"cdna_length": 6554,
"mane_select": "NM_001242896.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "RD",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.2492_2493insAGA",
"hgvs_p": "p.Ser831delinsArgAsp",
"transcript": "ENST00000382112.8",
"protein_id": "ENSP00000371546.4",
"transcript_support_level": 1,
"aa_start": 831,
"aa_end": null,
"aa_length": 1603,
"cds_start": 2493,
"cds_end": null,
"cds_length": 4812,
"cdna_start": 2579,
"cdna_end": null,
"cdna_length": 5390,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "RD",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.2408_2409insAGA",
"hgvs_p": "p.Ser803delinsArgAsp",
"transcript": "ENST00000433147.2",
"protein_id": "ENSP00000410544.2",
"transcript_support_level": 1,
"aa_start": 803,
"aa_end": null,
"aa_length": 1575,
"cds_start": 2409,
"cds_end": null,
"cds_length": 4728,
"cdna_start": 2511,
"cdna_end": null,
"cdna_length": 5331,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "RD",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.2465_2466insAGA",
"hgvs_p": "p.Ser822delinsArgAsp",
"transcript": "ENST00000400248.7",
"protein_id": "ENSP00000383107.1",
"transcript_support_level": 1,
"aa_start": 822,
"aa_end": null,
"aa_length": 1572,
"cds_start": 2466,
"cds_end": null,
"cds_length": 4719,
"cdna_start": 2549,
"cdna_end": null,
"cdna_length": 5319,
"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": 25,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "n.2258_2259insAGA",
"hgvs_p": null,
"transcript": "ENST00000400246.7",
"protein_id": "ENSP00000383105.3",
"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": 5725,
"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": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "n.548_549insAGA",
"hgvs_p": null,
"transcript": "ENST00000448753.6",
"protein_id": "ENSP00000402173.1",
"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": 3256,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285404",
"gene_hgnc_id": null,
"hgvs_c": "c.1786+19597_1786+19598insAGA",
"hgvs_p": null,
"transcript": "ENST00000646701.1",
"protein_id": "ENSP00000496158.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 600,
"cds_start": -4,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1914,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "RD",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.2492_2493insAGA",
"hgvs_p": "p.Ser831delinsArgAsp",
"transcript": "NM_001364318.2",
"protein_id": "NP_001351247.1",
"transcript_support_level": null,
"aa_start": 831,
"aa_end": null,
"aa_length": 1603,
"cds_start": 2493,
"cds_end": null,
"cds_length": 4812,
"cdna_start": 2582,
"cdna_end": null,
"cdna_length": 6437,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "RD",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.2465_2466insAGA",
"hgvs_p": "p.Ser822delinsArgAsp",
"transcript": "NM_001136029.4",
"protein_id": "NP_001129501.1",
"transcript_support_level": null,
"aa_start": 822,
"aa_end": null,
"aa_length": 1594,
"cds_start": 2466,
"cds_end": null,
"cds_length": 4785,
"cdna_start": 2555,
"cdna_end": null,
"cdna_length": 6410,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "RD",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.2465_2466insAGA",
"hgvs_p": "p.Ser822delinsArgAsp",
"transcript": "ENST00000645711.1",
"protein_id": "ENSP00000493489.1",
"transcript_support_level": null,
"aa_start": 822,
"aa_end": null,
"aa_length": 1594,
"cds_start": 2466,
"cds_end": null,
"cds_length": 4785,
"cdna_start": 2623,
"cdna_end": null,
"cdna_length": 5450,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "RD",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.2516_2517insAGA",
"hgvs_p": "p.Ser839delinsArgAsp",
"transcript": "ENST00000645407.1",
"protein_id": "ENSP00000496252.1",
"transcript_support_level": null,
"aa_start": 839,
"aa_end": null,
"aa_length": 1589,
"cds_start": 2517,
"cds_end": null,
"cds_length": 4770,
"cdna_start": 2524,
"cdna_end": null,
"cdna_length": 5010,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "RD",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.2492_2493insAGA",
"hgvs_p": "p.Ser831delinsArgAsp",
"transcript": "NM_001363852.2",
"protein_id": "NP_001350781.1",
"transcript_support_level": null,
"aa_start": 831,
"aa_end": null,
"aa_length": 1581,
"cds_start": 2493,
"cds_end": null,
"cds_length": 4746,
"cdna_start": 2582,
"cdna_end": null,
"cdna_length": 5353,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "RD",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.2492_2493insAGA",
"hgvs_p": "p.Ser831delinsArgAsp",
"transcript": "NM_001364320.2",
"protein_id": "NP_001351249.1",
"transcript_support_level": null,
"aa_start": 831,
"aa_end": null,
"aa_length": 1581,
"cds_start": 2493,
"cds_end": null,
"cds_length": 4746,
"cdna_start": 2699,
"cdna_end": null,
"cdna_length": 6488,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "RD",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.2492_2493insAGA",
"hgvs_p": "p.Ser831delinsArgAsp",
"transcript": "ENST00000400249.7",
"protein_id": "ENSP00000383108.3",
"transcript_support_level": 5,
"aa_start": 831,
"aa_end": null,
"aa_length": 1581,
"cds_start": 2493,
"cds_end": null,
"cds_length": 4746,
"cdna_start": 2585,
"cdna_end": null,
"cdna_length": 5350,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "RD",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.2492_2493insAGA",
"hgvs_p": "p.Ser831delinsArgAsp",
"transcript": "ENST00000644331.1",
"protein_id": "ENSP00000494406.1",
"transcript_support_level": null,
"aa_start": 831,
"aa_end": null,
"aa_length": 1581,
"cds_start": 2493,
"cds_end": null,
"cds_length": 4746,
"cdna_start": 2638,
"cdna_end": null,
"cdna_length": 5383,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "RD",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.2408_2409insAGA",
"hgvs_p": "p.Ser803delinsArgAsp",
"transcript": "NM_001369901.1",
"protein_id": "NP_001356830.1",
"transcript_support_level": null,
"aa_start": 803,
"aa_end": null,
"aa_length": 1575,
"cds_start": 2409,
"cds_end": null,
"cds_length": 4728,
"cdna_start": 2611,
"cdna_end": null,
"cdna_length": 5448,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "RD",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.2408_2409insAGA",
"hgvs_p": "p.Ser803delinsArgAsp",
"transcript": "NM_001369902.1",
"protein_id": "NP_001356831.1",
"transcript_support_level": null,
"aa_start": 803,
"aa_end": null,
"aa_length": 1575,
"cds_start": 2409,
"cds_end": null,
"cds_length": 4728,
"cdna_start": 2498,
"cdna_end": null,
"cdna_length": 5335,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "RD",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.2465_2466insAGA",
"hgvs_p": "p.Ser822delinsArgAsp",
"transcript": "NM_001369903.1",
"protein_id": "NP_001356832.1",
"transcript_support_level": null,
"aa_start": 822,
"aa_end": null,
"aa_length": 1572,
"cds_start": 2466,
"cds_end": null,
"cds_length": 4719,
"cdna_start": 2668,
"cdna_end": null,
"cdna_length": 5439,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "RD",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.2465_2466insAGA",
"hgvs_p": "p.Ser822delinsArgAsp",
"transcript": "NM_014662.6",
"protein_id": "NP_055477.1",
"transcript_support_level": null,
"aa_start": 822,
"aa_end": null,
"aa_length": 1572,
"cds_start": 2466,
"cds_end": null,
"cds_length": 4719,
"cdna_start": 2555,
"cdna_end": null,
"cdna_length": 6344,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "RD",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.2465_2466insAGA",
"hgvs_p": "p.Ser822delinsArgAsp",
"transcript": "ENST00000642696.1",
"protein_id": "ENSP00000495917.1",
"transcript_support_level": null,
"aa_start": 822,
"aa_end": null,
"aa_length": 1572,
"cds_start": 2466,
"cds_end": null,
"cds_length": 4719,
"cdna_start": 2690,
"cdna_end": null,
"cdna_length": 6479,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "RD",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.2492_2493insAGA",
"hgvs_p": "p.Ser831delinsArgAsp",
"transcript": "ENST00000382111.6",
"protein_id": "ENSP00000371545.2",
"transcript_support_level": 5,
"aa_start": 831,
"aa_end": null,
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{
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},
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}
],
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"dbsnp": "rs1555897392",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 2.925,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PM4_Supporting,PP5",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PM4_Supporting",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000651528.2",
"gene_symbol": "DEPDC5",
"hgnc_id": 18423,
"effects": [
"disruptive_inframe_insertion"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2492_2493insAGA",
"hgvs_p": "p.Ser831delinsArgAsp"
},
{
"score": 3,
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"pathogenic_score": 3,
"criteria": [
"PM2",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000646701.1",
"gene_symbol": "ENSG00000285404",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1786+19597_1786+19598insAGA",
"hgvs_p": null
}
],
"clinvar_disease": "Self-limited epilepsy with centrotemporal spikes",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Self-limited epilepsy with centrotemporal spikes",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}