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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: 11-65866948-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=65866948&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 65866948,
"ref": "G",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_016938.5",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFEMP2",
"gene_hgnc_id": 3219,
"hgvs_c": "c.1302C>A",
"hgvs_p": "p.Leu434Leu",
"transcript": "NM_016938.5",
"protein_id": "NP_058634.4",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 443,
"cds_start": 1302,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000307998.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016938.5"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFEMP2",
"gene_hgnc_id": 3219,
"hgvs_c": "c.1302C>A",
"hgvs_p": "p.Leu434Leu",
"transcript": "ENST00000307998.11",
"protein_id": "ENSP00000309953.6",
"transcript_support_level": 1,
"aa_start": 434,
"aa_end": null,
"aa_length": 443,
"cds_start": 1302,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016938.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000307998.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFEMP2",
"gene_hgnc_id": 3219,
"hgvs_c": "n.1302C>A",
"hgvs_p": null,
"transcript": "ENST00000531972.5",
"protein_id": "ENSP00000435295.1",
"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": "ENST00000531972.5"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFEMP2",
"gene_hgnc_id": 3219,
"hgvs_c": "c.1521C>A",
"hgvs_p": "p.Leu507Leu",
"transcript": "ENST00000907927.1",
"protein_id": "ENSP00000577986.1",
"transcript_support_level": null,
"aa_start": 507,
"aa_end": null,
"aa_length": 516,
"cds_start": 1521,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907927.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFEMP2",
"gene_hgnc_id": 3219,
"hgvs_c": "c.1386C>A",
"hgvs_p": "p.Leu462Leu",
"transcript": "ENST00000947418.1",
"protein_id": "ENSP00000617477.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 471,
"cds_start": 1386,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947418.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFEMP2",
"gene_hgnc_id": 3219,
"hgvs_c": "c.1308C>A",
"hgvs_p": "p.Leu436Leu",
"transcript": "ENST00000907924.1",
"protein_id": "ENSP00000577983.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 445,
"cds_start": 1308,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907924.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFEMP2",
"gene_hgnc_id": 3219,
"hgvs_c": "c.1302C>A",
"hgvs_p": "p.Leu434Leu",
"transcript": "ENST00000907916.1",
"protein_id": "ENSP00000577975.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 443,
"cds_start": 1302,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907916.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFEMP2",
"gene_hgnc_id": 3219,
"hgvs_c": "c.1302C>A",
"hgvs_p": "p.Leu434Leu",
"transcript": "ENST00000907917.1",
"protein_id": "ENSP00000577976.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 443,
"cds_start": 1302,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907917.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFEMP2",
"gene_hgnc_id": 3219,
"hgvs_c": "c.1302C>A",
"hgvs_p": "p.Leu434Leu",
"transcript": "ENST00000907918.1",
"protein_id": "ENSP00000577977.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 443,
"cds_start": 1302,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907918.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFEMP2",
"gene_hgnc_id": 3219,
"hgvs_c": "c.1302C>A",
"hgvs_p": "p.Leu434Leu",
"transcript": "ENST00000907919.1",
"protein_id": "ENSP00000577978.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 443,
"cds_start": 1302,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907919.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFEMP2",
"gene_hgnc_id": 3219,
"hgvs_c": "c.1302C>A",
"hgvs_p": "p.Leu434Leu",
"transcript": "ENST00000907920.1",
"protein_id": "ENSP00000577979.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 443,
"cds_start": 1302,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907920.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFEMP2",
"gene_hgnc_id": 3219,
"hgvs_c": "c.1302C>A",
"hgvs_p": "p.Leu434Leu",
"transcript": "ENST00000907922.1",
"protein_id": "ENSP00000577981.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 443,
"cds_start": 1302,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907922.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFEMP2",
"gene_hgnc_id": 3219,
"hgvs_c": "c.1302C>A",
"hgvs_p": "p.Leu434Leu",
"transcript": "ENST00000907923.1",
"protein_id": "ENSP00000577982.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 443,
"cds_start": 1302,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907923.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFEMP2",
"gene_hgnc_id": 3219,
"hgvs_c": "c.1302C>A",
"hgvs_p": "p.Leu434Leu",
"transcript": "ENST00000947415.1",
"protein_id": "ENSP00000617474.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 443,
"cds_start": 1302,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947415.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFEMP2",
"gene_hgnc_id": 3219,
"hgvs_c": "c.1302C>A",
"hgvs_p": "p.Leu434Leu",
"transcript": "ENST00000947416.1",
"protein_id": "ENSP00000617475.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 443,
"cds_start": 1302,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947416.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFEMP2",
"gene_hgnc_id": 3219,
"hgvs_c": "c.1302C>A",
"hgvs_p": "p.Leu434Leu",
"transcript": "ENST00000947417.1",
"protein_id": "ENSP00000617476.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 443,
"cds_start": 1302,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947417.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFEMP2",
"gene_hgnc_id": 3219,
"hgvs_c": "c.1302C>A",
"hgvs_p": "p.Leu434Leu",
"transcript": "ENST00000947419.1",
"protein_id": "ENSP00000617478.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 443,
"cds_start": 1302,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947419.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFEMP2",
"gene_hgnc_id": 3219,
"hgvs_c": "c.1299C>A",
"hgvs_p": "p.Leu433Leu",
"transcript": "ENST00000907921.1",
"protein_id": "ENSP00000577980.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 442,
"cds_start": 1299,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907921.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFEMP2",
"gene_hgnc_id": 3219,
"hgvs_c": "c.1299C>A",
"hgvs_p": "p.Leu433Leu",
"transcript": "ENST00000947421.1",
"protein_id": "ENSP00000617480.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 442,
"cds_start": 1299,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947421.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFEMP2",
"gene_hgnc_id": 3219,
"hgvs_c": "c.1179C>A",
"hgvs_p": "p.Leu393Leu",
"transcript": "ENST00000907925.1",
"protein_id": "ENSP00000577984.1",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 402,
"cds_start": 1179,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907925.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFEMP2",
"gene_hgnc_id": 3219,
"hgvs_c": "c.1128C>A",
"hgvs_p": "p.Leu376Leu",
"transcript": "ENST00000947420.1",
"protein_id": "ENSP00000617479.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 385,
"cds_start": 1128,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947420.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFEMP2",
"gene_hgnc_id": 3219,
"hgvs_c": "c.1095C>A",
"hgvs_p": "p.Leu365Leu",
"transcript": "ENST00000907926.1",
"protein_id": "ENSP00000577985.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
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{
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"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
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],
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{
"score": -4,
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],
"clinvar_disease": " autosomal recessive, type 1B,Cutis laxa",
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"clinvar_review_status": "criteria provided, single submitter",
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"phenotype_combined": "Cutis laxa, autosomal recessive, type 1B",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}