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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: 22-31893734-GC-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=31893734&ref=GC&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 31893734,
"ref": "GC",
"alt": "G",
"effect": "frameshift_variant",
"transcript": "ENST00000651528.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.4187delC",
"hgvs_p": "p.Ala1396fs",
"transcript": "NM_001242896.3",
"protein_id": "NP_001229825.1",
"transcript_support_level": null,
"aa_start": 1396,
"aa_end": null,
"aa_length": 1603,
"cds_start": 4187,
"cds_end": null,
"cds_length": 4812,
"cdna_start": 4393,
"cdna_end": null,
"cdna_length": 6554,
"mane_select": "ENST00000651528.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.4187delC",
"hgvs_p": "p.Ala1396fs",
"transcript": "ENST00000651528.2",
"protein_id": "ENSP00000498382.1",
"transcript_support_level": null,
"aa_start": 1396,
"aa_end": null,
"aa_length": 1603,
"cds_start": 4187,
"cds_end": null,
"cds_length": 4812,
"cdna_start": 4393,
"cdna_end": null,
"cdna_length": 6554,
"mane_select": "NM_001242896.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.4187delC",
"hgvs_p": "p.Ala1396fs",
"transcript": "ENST00000382112.8",
"protein_id": "ENSP00000371546.4",
"transcript_support_level": 1,
"aa_start": 1396,
"aa_end": null,
"aa_length": 1603,
"cds_start": 4187,
"cds_end": null,
"cds_length": 4812,
"cdna_start": 4273,
"cdna_end": null,
"cdna_length": 5390,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.4103delC",
"hgvs_p": "p.Ala1368fs",
"transcript": "ENST00000433147.2",
"protein_id": "ENSP00000410544.2",
"transcript_support_level": 1,
"aa_start": 1368,
"aa_end": null,
"aa_length": 1575,
"cds_start": 4103,
"cds_end": null,
"cds_length": 4728,
"cdna_start": 4205,
"cdna_end": null,
"cdna_length": 5331,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.4094delC",
"hgvs_p": "p.Ala1365fs",
"transcript": "ENST00000400248.7",
"protein_id": "ENSP00000383107.1",
"transcript_support_level": 1,
"aa_start": 1365,
"aa_end": null,
"aa_length": 1572,
"cds_start": 4094,
"cds_end": null,
"cds_length": 4719,
"cdna_start": 4177,
"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": 36,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "n.3887delC",
"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": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "n.*154delC",
"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": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "n.*154delC",
"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.1787-62404delC",
"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": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.4187delC",
"hgvs_p": "p.Ala1396fs",
"transcript": "NM_001364318.2",
"protein_id": "NP_001351247.1",
"transcript_support_level": null,
"aa_start": 1396,
"aa_end": null,
"aa_length": 1603,
"cds_start": 4187,
"cds_end": null,
"cds_length": 4812,
"cdna_start": 4276,
"cdna_end": null,
"cdna_length": 6437,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.4160delC",
"hgvs_p": "p.Ala1387fs",
"transcript": "NM_001136029.4",
"protein_id": "NP_001129501.1",
"transcript_support_level": null,
"aa_start": 1387,
"aa_end": null,
"aa_length": 1594,
"cds_start": 4160,
"cds_end": null,
"cds_length": 4785,
"cdna_start": 4249,
"cdna_end": null,
"cdna_length": 6410,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.4160delC",
"hgvs_p": "p.Ala1387fs",
"transcript": "ENST00000645711.1",
"protein_id": "ENSP00000493489.1",
"transcript_support_level": null,
"aa_start": 1387,
"aa_end": null,
"aa_length": 1594,
"cds_start": 4160,
"cds_end": null,
"cds_length": 4785,
"cdna_start": 4317,
"cdna_end": null,
"cdna_length": 5450,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.4145delC",
"hgvs_p": "p.Ala1382fs",
"transcript": "ENST00000645407.1",
"protein_id": "ENSP00000496252.1",
"transcript_support_level": null,
"aa_start": 1382,
"aa_end": null,
"aa_length": 1589,
"cds_start": 4145,
"cds_end": null,
"cds_length": 4770,
"cdna_start": 4152,
"cdna_end": null,
"cdna_length": 5010,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.4121delC",
"hgvs_p": "p.Ala1374fs",
"transcript": "NM_001363852.2",
"protein_id": "NP_001350781.1",
"transcript_support_level": null,
"aa_start": 1374,
"aa_end": null,
"aa_length": 1581,
"cds_start": 4121,
"cds_end": null,
"cds_length": 4746,
"cdna_start": 4210,
"cdna_end": null,
"cdna_length": 5353,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.4121delC",
"hgvs_p": "p.Ala1374fs",
"transcript": "NM_001364320.2",
"protein_id": "NP_001351249.1",
"transcript_support_level": null,
"aa_start": 1374,
"aa_end": null,
"aa_length": 1581,
"cds_start": 4121,
"cds_end": null,
"cds_length": 4746,
"cdna_start": 4327,
"cdna_end": null,
"cdna_length": 6488,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.4121delC",
"hgvs_p": "p.Ala1374fs",
"transcript": "ENST00000400249.7",
"protein_id": "ENSP00000383108.3",
"transcript_support_level": 5,
"aa_start": 1374,
"aa_end": null,
"aa_length": 1581,
"cds_start": 4121,
"cds_end": null,
"cds_length": 4746,
"cdna_start": 4213,
"cdna_end": null,
"cdna_length": 5350,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.4121delC",
"hgvs_p": "p.Ala1374fs",
"transcript": "ENST00000644331.1",
"protein_id": "ENSP00000494406.1",
"transcript_support_level": null,
"aa_start": 1374,
"aa_end": null,
"aa_length": 1581,
"cds_start": 4121,
"cds_end": null,
"cds_length": 4746,
"cdna_start": 4266,
"cdna_end": null,
"cdna_length": 5383,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.4103delC",
"hgvs_p": "p.Ala1368fs",
"transcript": "NM_001369901.1",
"protein_id": "NP_001356830.1",
"transcript_support_level": null,
"aa_start": 1368,
"aa_end": null,
"aa_length": 1575,
"cds_start": 4103,
"cds_end": null,
"cds_length": 4728,
"cdna_start": 4305,
"cdna_end": null,
"cdna_length": 5448,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.4103delC",
"hgvs_p": "p.Ala1368fs",
"transcript": "NM_001369902.1",
"protein_id": "NP_001356831.1",
"transcript_support_level": null,
"aa_start": 1368,
"aa_end": null,
"aa_length": 1575,
"cds_start": 4103,
"cds_end": null,
"cds_length": 4728,
"cdna_start": 4192,
"cdna_end": null,
"cdna_length": 5335,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.4094delC",
"hgvs_p": "p.Ala1365fs",
"transcript": "NM_001369903.1",
"protein_id": "NP_001356832.1",
"transcript_support_level": null,
"aa_start": 1365,
"aa_end": null,
"aa_length": 1572,
"cds_start": 4094,
"cds_end": null,
"cds_length": 4719,
"cdna_start": 4296,
"cdna_end": null,
"cdna_length": 5439,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.4094delC",
"hgvs_p": "p.Ala1365fs",
"transcript": "NM_014662.6",
"protein_id": "NP_055477.1",
"transcript_support_level": null,
"aa_start": 1365,
"aa_end": null,
"aa_length": 1572,
"cds_start": 4094,
"cds_end": null,
"cds_length": 4719,
"cdna_start": 4183,
"cdna_end": null,
"cdna_length": 6344,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.4094delC",
"hgvs_p": "p.Ala1365fs",
"transcript": "ENST00000642696.1",
"protein_id": "ENSP00000495917.1",
"transcript_support_level": null,
"aa_start": 1365,
"aa_end": null,
"aa_length": 1572,
"cds_start": 4094,
"cds_end": null,
"cds_length": 4719,
"cdna_start": 4318,
"cdna_end": null,
"cdna_length": 6479,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
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}
],
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"splice_prediction_selected": "Benign",
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"spliceai_max_score": 0.01,
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"acmg_by_gene": [
{
"score": 10,
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"PM2"
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"verdict": "Pathogenic",
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"effects": [
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],
"inheritance_mode": "AD",
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{
"score": 2,
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],
"verdict": "Uncertain_significance",
"transcript": "ENST00000646701.1",
"gene_symbol": "ENSG00000285404",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1787-62404delC",
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},
{
"score": 2,
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"criteria": [
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"verdict": "Uncertain_significance",
"transcript": "ENST00000757455.1",
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"effects": [
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"hgvs_c": "n.351delG",
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],
"clinvar_disease": " familial focal, with variable foci 1,Epilepsy",
"clinvar_classification": "not provided",
"clinvar_review_status": "no classification provided",
"clinvar_submissions_summary": "O:1",
"phenotype_combined": "Epilepsy, familial focal, with variable foci 1",
"pathogenicity_classification_combined": "not provided",
"custom_annotations": null
}
],
"message": null
}