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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: 6-145627509-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=145627509&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 145627509,
"ref": "C",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "ENST00000367519.9",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPM2A",
"gene_hgnc_id": 3413,
"hgvs_c": "c.661G>C",
"hgvs_p": "p.Gly221Arg",
"transcript": "ENST00000638262.1",
"protein_id": "ENSP00000492876.1",
"transcript_support_level": 1,
"aa_start": 221,
"aa_end": null,
"aa_length": 224,
"cds_start": 661,
"cds_end": null,
"cds_length": 675,
"cdna_start": 661,
"cdna_end": null,
"cdna_length": 2679,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPM2A",
"gene_hgnc_id": 3413,
"hgvs_c": "c.903G>C",
"hgvs_p": "p.Pro301Pro",
"transcript": "NM_005670.4",
"protein_id": "NP_005661.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 331,
"cds_start": 903,
"cds_end": null,
"cds_length": 996,
"cdna_start": 925,
"cdna_end": null,
"cdna_length": 3129,
"mane_select": "ENST00000367519.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPM2A",
"gene_hgnc_id": 3413,
"hgvs_c": "c.903G>C",
"hgvs_p": "p.Pro301Pro",
"transcript": "ENST00000367519.9",
"protein_id": "ENSP00000356489.3",
"transcript_support_level": 1,
"aa_start": 301,
"aa_end": null,
"aa_length": 331,
"cds_start": 903,
"cds_end": null,
"cds_length": 996,
"cdna_start": 925,
"cdna_end": null,
"cdna_length": 3129,
"mane_select": "NM_005670.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPM2A",
"gene_hgnc_id": 3413,
"hgvs_c": "c.903G>C",
"hgvs_p": "p.Pro301Pro",
"transcript": "ENST00000435470.2",
"protein_id": "ENSP00000405913.2",
"transcript_support_level": 1,
"aa_start": 301,
"aa_end": null,
"aa_length": 317,
"cds_start": 903,
"cds_end": null,
"cds_length": 954,
"cdna_start": 903,
"cdna_end": null,
"cdna_length": 1278,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPM2A",
"gene_hgnc_id": 3413,
"hgvs_c": "c.489G>C",
"hgvs_p": "p.Pro163Pro",
"transcript": "ENST00000639423.1",
"protein_id": "ENSP00000492701.1",
"transcript_support_level": 1,
"aa_start": 163,
"aa_end": null,
"aa_length": 193,
"cds_start": 489,
"cds_end": null,
"cds_length": 582,
"cdna_start": 681,
"cdna_end": null,
"cdna_length": 2886,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPM2A",
"gene_hgnc_id": 3413,
"hgvs_c": "n.*747G>C",
"hgvs_p": null,
"transcript": "ENST00000639049.1",
"protein_id": "ENSP00000491590.1",
"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": 3335,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPM2A",
"gene_hgnc_id": 3413,
"hgvs_c": "n.1444G>C",
"hgvs_p": null,
"transcript": "ENST00000639799.1",
"protein_id": null,
"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": 3649,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPM2A",
"gene_hgnc_id": 3413,
"hgvs_c": "n.*747G>C",
"hgvs_p": null,
"transcript": "ENST00000639049.1",
"protein_id": "ENSP00000491590.1",
"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": 3335,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPM2A",
"gene_hgnc_id": 3413,
"hgvs_c": "c.661G>C",
"hgvs_p": "p.Gly221Arg",
"transcript": "NM_001360057.2",
"protein_id": "NP_001346986.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 224,
"cds_start": 661,
"cds_end": null,
"cds_length": 675,
"cdna_start": 683,
"cdna_end": null,
"cdna_length": 2887,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPM2A",
"gene_hgnc_id": 3413,
"hgvs_c": "c.247G>C",
"hgvs_p": "p.Gly83Arg",
"transcript": "ENST00000640980.1",
"protein_id": "ENSP00000491191.1",
"transcript_support_level": 3,
"aa_start": 83,
"aa_end": null,
"aa_length": 86,
"cds_start": 247,
"cds_end": null,
"cds_length": 261,
"cdna_start": 417,
"cdna_end": null,
"cdna_length": 647,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPM2A",
"gene_hgnc_id": 3413,
"hgvs_c": "c.903G>C",
"hgvs_p": "p.Pro301Pro",
"transcript": "NM_001018041.2",
"protein_id": "NP_001018051.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 317,
"cds_start": 903,
"cds_end": null,
"cds_length": 954,
"cdna_start": 925,
"cdna_end": null,
"cdna_length": 1366,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPM2A",
"gene_hgnc_id": 3413,
"hgvs_c": "c.489G>C",
"hgvs_p": "p.Pro163Pro",
"transcript": "NM_001360064.2",
"protein_id": "NP_001346993.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 193,
"cds_start": 489,
"cds_end": null,
"cds_length": 582,
"cdna_start": 718,
"cdna_end": null,
"cdna_length": 2922,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPM2A",
"gene_hgnc_id": 3413,
"hgvs_c": "c.489G>C",
"hgvs_p": "p.Pro163Pro",
"transcript": "NM_001360071.2",
"protein_id": "NP_001347000.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 193,
"cds_start": 489,
"cds_end": null,
"cds_length": 582,
"cdna_start": 1180,
"cdna_end": null,
"cdna_length": 3384,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPM2A",
"gene_hgnc_id": 3413,
"hgvs_c": "c.489G>C",
"hgvs_p": "p.Pro163Pro",
"transcript": "NM_001368131.1",
"protein_id": "NP_001355060.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 193,
"cds_start": 489,
"cds_end": null,
"cds_length": 582,
"cdna_start": 878,
"cdna_end": null,
"cdna_length": 3082,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPM2A",
"gene_hgnc_id": 3413,
"hgvs_c": "c.489G>C",
"hgvs_p": "p.Pro163Pro",
"transcript": "ENST00000611340.5",
"protein_id": "ENSP00000480268.1",
"transcript_support_level": 2,
"aa_start": 163,
"aa_end": null,
"aa_length": 193,
"cds_start": 489,
"cds_end": null,
"cds_length": 582,
"cdna_start": 630,
"cdna_end": null,
"cdna_length": 2786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPM2A",
"gene_hgnc_id": 3413,
"hgvs_c": "c.489G>C",
"hgvs_p": "p.Pro163Pro",
"transcript": "ENST00000638778.1",
"protein_id": "ENSP00000491353.1",
"transcript_support_level": 4,
"aa_start": 163,
"aa_end": null,
"aa_length": 193,
"cds_start": 489,
"cds_end": null,
"cds_length": 582,
"cdna_start": 690,
"cdna_end": null,
"cdna_length": 813,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPM2A",
"gene_hgnc_id": 3413,
"hgvs_c": "c.489G>C",
"hgvs_p": "p.Pro163Pro",
"transcript": "ENST00000638783.1",
"protein_id": "ENSP00000491338.1",
"transcript_support_level": 5,
"aa_start": 163,
"aa_end": null,
"aa_length": 193,
"cds_start": 489,
"cds_end": null,
"cds_length": 582,
"cdna_start": 621,
"cdna_end": null,
"cdna_length": 801,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPM2A",
"gene_hgnc_id": 3413,
"hgvs_c": "c.489G>C",
"hgvs_p": "p.Pro163Pro",
"transcript": "ENST00000639465.1",
"protein_id": "ENSP00000491180.1",
"transcript_support_level": 5,
"aa_start": 163,
"aa_end": null,
"aa_length": 193,
"cds_start": 489,
"cds_end": null,
"cds_length": 582,
"cdna_start": 639,
"cdna_end": null,
"cdna_length": 2203,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPM2A",
"gene_hgnc_id": 3413,
"hgvs_c": "c.441G>C",
"hgvs_p": "p.Pro147Pro",
"transcript": "NM_001368129.2",
"protein_id": "NP_001355058.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 177,
"cds_start": 441,
"cds_end": null,
"cds_length": 534,
"cdna_start": 1086,
"cdna_end": null,
"cdna_length": 3290,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPM2A",
"gene_hgnc_id": 3413,
"hgvs_c": "c.441G>C",
"hgvs_p": "p.Pro147Pro",
"transcript": "NM_001368132.1",
"protein_id": "NP_001355061.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 177,
"cds_start": 441,
"cds_end": null,
"cds_length": 534,
"cdna_start": 797,
"cdna_end": null,
"cdna_length": 3001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPM2A",
"gene_hgnc_id": 3413,
"hgvs_c": "c.489G>C",
"hgvs_p": "p.Pro163Pro",
"transcript": "XM_011536116.2",
"protein_id": "XP_011534418.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 193,
"cds_start": 489,
"cds_end": null,
"cds_length": 582,
"cdna_start": 636,
"cdna_end": null,
"cdna_length": 2840,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPM2A",
"gene_hgnc_id": 3413,
"hgvs_c": "c.489G>C",
"hgvs_p": "p.Pro163Pro",
"transcript": "XM_024446551.2",
"protein_id": "XP_024302319.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 193,
"cds_start": 489,
"cds_end": null,
"cds_length": 582,
"cdna_start": 822,
"cdna_end": null,
"cdna_length": 3026,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPM2A",
"gene_hgnc_id": 3413,
"hgvs_c": "c.441G>C",
"hgvs_p": "p.Pro147Pro",
"transcript": "XM_017011302.2",
"protein_id": "XP_016866791.1",
"transcript_support_level": null,
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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{
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"BS1",
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"verdict": "Benign",
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],
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"clinvar_submissions_summary": "LB:1 B:3",
"phenotype_combined": "not specified|Progressive myoclonic epilepsy|Inborn genetic diseases",
"pathogenicity_classification_combined": "Benign/Likely benign",
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}
],
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}