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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: 6-145686205-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=145686205&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 145686205,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_005670.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPM2A",
"gene_hgnc_id": 3413,
"hgvs_c": "c.393G>A",
"hgvs_p": "p.Glu131Glu",
"transcript": "NM_005670.4",
"protein_id": "NP_005661.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 331,
"cds_start": 393,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000367519.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005670.4"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPM2A",
"gene_hgnc_id": 3413,
"hgvs_c": "c.393G>A",
"hgvs_p": "p.Glu131Glu",
"transcript": "ENST00000367519.9",
"protein_id": "ENSP00000356489.3",
"transcript_support_level": 1,
"aa_start": 131,
"aa_end": null,
"aa_length": 331,
"cds_start": 393,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005670.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367519.9"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPM2A",
"gene_hgnc_id": 3413,
"hgvs_c": "c.393G>A",
"hgvs_p": "p.Glu131Glu",
"transcript": "ENST00000435470.2",
"protein_id": "ENSP00000405913.2",
"transcript_support_level": 1,
"aa_start": 131,
"aa_end": null,
"aa_length": 317,
"cds_start": 393,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000435470.2"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPM2A",
"gene_hgnc_id": 3413,
"hgvs_c": "c.393G>A",
"hgvs_p": "p.Glu131Glu",
"transcript": "ENST00000638262.1",
"protein_id": "ENSP00000492876.1",
"transcript_support_level": 1,
"aa_start": 131,
"aa_end": null,
"aa_length": 224,
"cds_start": 393,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000638262.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPM2A",
"gene_hgnc_id": 3413,
"hgvs_c": "c.-22G>A",
"hgvs_p": null,
"transcript": "ENST00000639423.1",
"protein_id": "ENSP00000492701.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 193,
"cds_start": null,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000639423.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPM2A",
"gene_hgnc_id": 3413,
"hgvs_c": "n.*237G>A",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000639049.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPM2A",
"gene_hgnc_id": 3413,
"hgvs_c": "n.934G>A",
"hgvs_p": null,
"transcript": "ENST00000639799.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000639799.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPM2A",
"gene_hgnc_id": 3413,
"hgvs_c": "n.*237G>A",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000639049.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPM2A",
"gene_hgnc_id": 3413,
"hgvs_c": "c.393G>A",
"hgvs_p": "p.Glu131Glu",
"transcript": "NM_001018041.2",
"protein_id": "NP_001018051.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 317,
"cds_start": 393,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001018041.2"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPM2A",
"gene_hgnc_id": 3413,
"hgvs_c": "c.393G>A",
"hgvs_p": "p.Glu131Glu",
"transcript": "NM_001368130.1",
"protein_id": "NP_001355059.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 267,
"cds_start": 393,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001368130.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPM2A",
"gene_hgnc_id": 3413,
"hgvs_c": "c.393G>A",
"hgvs_p": "p.Glu131Glu",
"transcript": "NM_001360057.2",
"protein_id": "NP_001346986.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 224,
"cds_start": 393,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001360057.2"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPM2A",
"gene_hgnc_id": 3413,
"hgvs_c": "c.174G>A",
"hgvs_p": "p.Glu58Glu",
"transcript": "ENST00000638717.1",
"protein_id": "ENSP00000491330.1",
"transcript_support_level": 5,
"aa_start": 58,
"aa_end": null,
"aa_length": 208,
"cds_start": 174,
"cds_end": null,
"cds_length": 627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000638717.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPM2A",
"gene_hgnc_id": 3413,
"hgvs_c": "c.15G>A",
"hgvs_p": "p.Glu5Glu",
"transcript": "ENST00000450221.6",
"protein_id": "ENSP00000414900.2",
"transcript_support_level": 3,
"aa_start": 5,
"aa_end": null,
"aa_length": 144,
"cds_start": 15,
"cds_end": null,
"cds_length": 435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000450221.6"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPM2A",
"gene_hgnc_id": 3413,
"hgvs_c": "c.393G>A",
"hgvs_p": "p.Glu131Glu",
"transcript": "XM_024446550.2",
"protein_id": "XP_024302318.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 281,
"cds_start": 393,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446550.2"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPM2A",
"gene_hgnc_id": 3413,
"hgvs_c": "c.393G>A",
"hgvs_p": "p.Glu131Glu",
"transcript": "XM_011536113.3",
"protein_id": "XP_011534415.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 272,
"cds_start": 393,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011536113.3"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPM2A",
"gene_hgnc_id": 3413,
"hgvs_c": "c.393G>A",
"hgvs_p": "p.Glu131Glu",
"transcript": "XM_047419363.1",
"protein_id": "XP_047275319.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 245,
"cds_start": 393,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419363.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPM2A",
"gene_hgnc_id": 3413,
"hgvs_c": "c.-22G>A",
"hgvs_p": null,
"transcript": "NM_001360064.2",
"protein_id": "NP_001346993.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 193,
"cds_start": null,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001360064.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPM2A",
"gene_hgnc_id": 3413,
"hgvs_c": "c.-22G>A",
"hgvs_p": null,
"transcript": "NM_001360071.2",
"protein_id": "NP_001347000.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 193,
"cds_start": null,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001360071.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPM2A",
"gene_hgnc_id": 3413,
"hgvs_c": "c.-22G>A",
"hgvs_p": null,
"transcript": "NM_001368131.1",
"protein_id": "NP_001355060.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 193,
"cds_start": null,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001368131.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPM2A",
"gene_hgnc_id": 3413,
"hgvs_c": "c.-22G>A",
"hgvs_p": null,
"transcript": "ENST00000611340.5",
"protein_id": "ENSP00000480268.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 193,
"cds_start": null,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000611340.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPM2A",
"gene_hgnc_id": 3413,
"hgvs_c": "c.-22G>A",
"hgvs_p": null,
"transcript": "ENST00000638778.1",
"protein_id": "ENSP00000491353.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 193,
"cds_start": null,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000638778.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPM2A",
"gene_hgnc_id": 3413,
"hgvs_c": "c.-22G>A",
"hgvs_p": null,
"transcript": "ENST00000638783.1",
"protein_id": "ENSP00000491338.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 193,
"cds_start": null,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000638783.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
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"transcript": "ENST00000828896.1",
"gene_symbol": "ENSG00000307801",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.147-29608C>T",
"hgvs_p": null
}
],
"clinvar_disease": "Inborn genetic diseases,Progressive myoclonic epilepsy,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:5 B:3",
"phenotype_combined": "not specified|not provided|Progressive myoclonic epilepsy|Inborn genetic diseases",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}