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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: 22-31861414-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=31861414&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 31861414,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000651528.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.3311C>T",
"hgvs_p": "p.Ser1104Leu",
"transcript": "NM_001242896.3",
"protein_id": "NP_001229825.1",
"transcript_support_level": null,
"aa_start": 1104,
"aa_end": null,
"aa_length": 1603,
"cds_start": 3311,
"cds_end": null,
"cds_length": 4812,
"cdna_start": 3517,
"cdna_end": null,
"cdna_length": 6554,
"mane_select": "ENST00000651528.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.3311C>T",
"hgvs_p": "p.Ser1104Leu",
"transcript": "ENST00000651528.2",
"protein_id": "ENSP00000498382.1",
"transcript_support_level": null,
"aa_start": 1104,
"aa_end": null,
"aa_length": 1603,
"cds_start": 3311,
"cds_end": null,
"cds_length": 4812,
"cdna_start": 3517,
"cdna_end": null,
"cdna_length": 6554,
"mane_select": "NM_001242896.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.3311C>T",
"hgvs_p": "p.Ser1104Leu",
"transcript": "ENST00000382112.8",
"protein_id": "ENSP00000371546.4",
"transcript_support_level": 1,
"aa_start": 1104,
"aa_end": null,
"aa_length": 1603,
"cds_start": 3311,
"cds_end": null,
"cds_length": 4812,
"cdna_start": 3397,
"cdna_end": null,
"cdna_length": 5390,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.3227C>T",
"hgvs_p": "p.Ser1076Leu",
"transcript": "ENST00000433147.2",
"protein_id": "ENSP00000410544.2",
"transcript_support_level": 1,
"aa_start": 1076,
"aa_end": null,
"aa_length": 1575,
"cds_start": 3227,
"cds_end": null,
"cds_length": 4728,
"cdna_start": 3329,
"cdna_end": null,
"cdna_length": 5331,
"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": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "n.1367C>T",
"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": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.3237+3861C>T",
"hgvs_p": null,
"transcript": "ENST00000400248.7",
"protein_id": "ENSP00000383107.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1572,
"cds_start": -4,
"cds_end": null,
"cds_length": 4719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5319,
"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+42189C>T",
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": 30,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "n.3030+3861C>T",
"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": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.3311C>T",
"hgvs_p": "p.Ser1104Leu",
"transcript": "NM_001364318.2",
"protein_id": "NP_001351247.1",
"transcript_support_level": null,
"aa_start": 1104,
"aa_end": null,
"aa_length": 1603,
"cds_start": 3311,
"cds_end": null,
"cds_length": 4812,
"cdna_start": 3400,
"cdna_end": null,
"cdna_length": 6437,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.3284C>T",
"hgvs_p": "p.Ser1095Leu",
"transcript": "NM_001136029.4",
"protein_id": "NP_001129501.1",
"transcript_support_level": null,
"aa_start": 1095,
"aa_end": null,
"aa_length": 1594,
"cds_start": 3284,
"cds_end": null,
"cds_length": 4785,
"cdna_start": 3373,
"cdna_end": null,
"cdna_length": 6410,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.3284C>T",
"hgvs_p": "p.Ser1095Leu",
"transcript": "ENST00000645711.1",
"protein_id": "ENSP00000493489.1",
"transcript_support_level": null,
"aa_start": 1095,
"aa_end": null,
"aa_length": 1594,
"cds_start": 3284,
"cds_end": null,
"cds_length": 4785,
"cdna_start": 3441,
"cdna_end": null,
"cdna_length": 5450,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.3227C>T",
"hgvs_p": "p.Ser1076Leu",
"transcript": "NM_001369901.1",
"protein_id": "NP_001356830.1",
"transcript_support_level": null,
"aa_start": 1076,
"aa_end": null,
"aa_length": 1575,
"cds_start": 3227,
"cds_end": null,
"cds_length": 4728,
"cdna_start": 3429,
"cdna_end": null,
"cdna_length": 5448,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.3227C>T",
"hgvs_p": "p.Ser1076Leu",
"transcript": "NM_001369902.1",
"protein_id": "NP_001356831.1",
"transcript_support_level": null,
"aa_start": 1076,
"aa_end": null,
"aa_length": 1575,
"cds_start": 3227,
"cds_end": null,
"cds_length": 4728,
"cdna_start": 3316,
"cdna_end": null,
"cdna_length": 5335,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.3311C>T",
"hgvs_p": "p.Ser1104Leu",
"transcript": "ENST00000382111.6",
"protein_id": "ENSP00000371545.2",
"transcript_support_level": 5,
"aa_start": 1104,
"aa_end": null,
"aa_length": 1552,
"cds_start": 3311,
"cds_end": null,
"cds_length": 4659,
"cdna_start": 3371,
"cdna_end": null,
"cdna_length": 5212,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.3077C>T",
"hgvs_p": "p.Ser1026Leu",
"transcript": "NM_001363854.2",
"protein_id": "NP_001350783.1",
"transcript_support_level": null,
"aa_start": 1026,
"aa_end": null,
"aa_length": 1525,
"cds_start": 3077,
"cds_end": null,
"cds_length": 4578,
"cdna_start": 3166,
"cdna_end": null,
"cdna_length": 5185,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.3077C>T",
"hgvs_p": "p.Ser1026Leu",
"transcript": "NM_001364319.2",
"protein_id": "NP_001351248.1",
"transcript_support_level": null,
"aa_start": 1026,
"aa_end": null,
"aa_length": 1525,
"cds_start": 3077,
"cds_end": null,
"cds_length": 4578,
"cdna_start": 3283,
"cdna_end": null,
"cdna_length": 6320,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.3077C>T",
"hgvs_p": "p.Ser1026Leu",
"transcript": "ENST00000645560.1",
"protein_id": "ENSP00000495544.1",
"transcript_support_level": null,
"aa_start": 1026,
"aa_end": null,
"aa_length": 1525,
"cds_start": 3077,
"cds_end": null,
"cds_length": 4578,
"cdna_start": 3202,
"cdna_end": null,
"cdna_length": 5207,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.3077C>T",
"hgvs_p": "p.Ser1026Leu",
"transcript": "ENST00000646969.1",
"protein_id": "ENSP00000496724.1",
"transcript_support_level": null,
"aa_start": 1026,
"aa_end": null,
"aa_length": 1525,
"cds_start": 3077,
"cds_end": null,
"cds_length": 4578,
"cdna_start": 3307,
"cdna_end": null,
"cdna_length": 5286,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.3077C>T",
"hgvs_p": "p.Ser1026Leu",
"transcript": "ENST00000646465.1",
"protein_id": "ENSP00000495655.1",
"transcript_support_level": null,
"aa_start": 1026,
"aa_end": null,
"aa_length": 1496,
"cds_start": 3077,
"cds_end": null,
"cds_length": 4491,
"cdna_start": 3234,
"cdna_end": null,
"cdna_length": 5258,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.3227C>T",
"hgvs_p": "p.Ser1076Leu",
"transcript": "ENST00000647343.1",
"protein_id": "ENSP00000494879.1",
"transcript_support_level": null,
"aa_start": 1076,
"aa_end": null,
"aa_length": 1483,
"cds_start": 3227,
"cds_end": null,
"cds_length": 4453,
"cdna_start": 3438,
"cdna_end": null,
"cdna_length": 4664,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.3284C>T",
"hgvs_p": "p.Ser1095Leu",
"transcript": "XM_011530557.3",
"protein_id": "XP_011528859.1",
"transcript_support_level": null,
"aa_start": 1095,
"aa_end": null,
"aa_length": 1594,
"cds_start": 3284,
"cds_end": null,
"cds_length": 4785,
"cdna_start": 3490,
"cdna_end": null,
"cdna_length": 6527,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC5",
"gene_hgnc_id": 18423,
"hgvs_c": "c.3050C>T",
"hgvs_p": "p.Ser1017Leu",
"transcript": "XM_011530561.3",
"protein_id": "XP_011528863.1",
"transcript_support_level": null,
"aa_start": 1017,
"aa_end": null,
"aa_length": 1516,
"cds_start": 3050,
"cds_end": null,
"cds_length": 4551,
"cdna_start": 3256,
"cdna_end": null,
"cdna_length": 6293,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 41,
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}
],
"gene_symbol": "DEPDC5",
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"dbsnp": "rs79027628",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 564,
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"gnomad_genomes_ac": 37,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.02859470248222351,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.15000000596046448,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.115,
"revel_prediction": "Benign",
"alphamissense_score": 0.0928,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.23,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.048,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.15,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS1,BS2",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000651528.2",
"gene_symbol": "DEPDC5",
"hgnc_id": 18423,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3311C>T",
"hgvs_p": "p.Ser1104Leu"
},
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "ENST00000646701.1",
"gene_symbol": "ENSG00000285404",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1786+42189C>T",
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}
],
"clinvar_disease": " familial focal, with variable foci 1,DEPDC5-related disorder,Epilepsy,Familial focal epilepsy with variable foci,Inborn genetic diseases,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:6 LB:1 B:1 O:1",
"phenotype_combined": "not specified|Epilepsy, familial focal, with variable foci 1|Familial focal epilepsy with variable foci|not provided|Inborn genetic diseases|DEPDC5-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}