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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: 1-6469122-T-TTCCTCCTCCTCCTCC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=6469122&ref=T&alt=TTCCTCCTCCTCCTCC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 6469122,
"ref": "T",
"alt": "TTCCTCCTCCTCCTCC",
"effect": "disruptive_inframe_insertion",
"transcript": "NM_001265593.2",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "EEEEEE",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.2154_2168dupGGAGGAGGAGGAGGA",
"hgvs_p": "p.Glu719_Glu723dup",
"transcript": "NM_020631.6",
"protein_id": "NP_065682.2",
"transcript_support_level": null,
"aa_start": 723,
"aa_end": null,
"aa_length": 1006,
"cds_start": 2168,
"cds_end": null,
"cds_length": 3021,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000377728.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020631.6"
},
{
"aa_ref": "E",
"aa_alt": "EEEEEE",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.2154_2168dupGGAGGAGGAGGAGGA",
"hgvs_p": "p.Glu719_Glu723dup",
"transcript": "ENST00000377728.8",
"protein_id": "ENSP00000366957.3",
"transcript_support_level": 2,
"aa_start": 723,
"aa_end": null,
"aa_length": 1006,
"cds_start": 2168,
"cds_end": null,
"cds_length": 3021,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020631.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377728.8"
},
{
"aa_ref": "E",
"aa_alt": "EEEEEE",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.2265_2279dupGGAGGAGGAGGAGGA",
"hgvs_p": "p.Glu756_Glu760dup",
"transcript": "ENST00000377732.5",
"protein_id": "ENSP00000366961.1",
"transcript_support_level": 1,
"aa_start": 760,
"aa_end": null,
"aa_length": 1043,
"cds_start": 2279,
"cds_end": null,
"cds_length": 3132,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377732.5"
},
{
"aa_ref": "E",
"aa_alt": "EEEEEE",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.2265_2279dupGGAGGAGGAGGAGGA",
"hgvs_p": "p.Glu756_Glu760dup",
"transcript": "ENST00000400915.8",
"protein_id": "ENSP00000383706.4",
"transcript_support_level": 1,
"aa_start": 760,
"aa_end": null,
"aa_length": 1043,
"cds_start": 2279,
"cds_end": null,
"cds_length": 3132,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000400915.8"
},
{
"aa_ref": "E",
"aa_alt": "EEEEEE",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.2154_2168dupGGAGGAGGAGGAGGA",
"hgvs_p": "p.Glu719_Glu723dup",
"transcript": "ENST00000377740.5",
"protein_id": "ENSP00000366969.4",
"transcript_support_level": 1,
"aa_start": 723,
"aa_end": null,
"aa_length": 1006,
"cds_start": 2168,
"cds_end": null,
"cds_length": 3021,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377740.5"
},
{
"aa_ref": "E",
"aa_alt": "EEEEEE",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.2154_2168dupGGAGGAGGAGGAGGA",
"hgvs_p": "p.Glu719_Glu723dup",
"transcript": "ENST00000377725.5",
"protein_id": "ENSP00000366954.1",
"transcript_support_level": 1,
"aa_start": 723,
"aa_end": null,
"aa_length": 930,
"cds_start": 2168,
"cds_end": null,
"cds_length": 2793,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377725.5"
},
{
"aa_ref": "E",
"aa_alt": "EEEEEE",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.2451_2465dupGGAGGAGGAGGAGGA",
"hgvs_p": "p.Glu818_Glu822dup",
"transcript": "ENST00000673471.2",
"protein_id": "ENSP00000500749.1",
"transcript_support_level": null,
"aa_start": 822,
"aa_end": null,
"aa_length": 1105,
"cds_start": 2465,
"cds_end": null,
"cds_length": 3318,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000673471.2"
},
{
"aa_ref": "E",
"aa_alt": "EEEEEE",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.2361_2375dupGGAGGAGGAGGAGGA",
"hgvs_p": "p.Glu788_Glu792dup",
"transcript": "NM_001265593.2",
"protein_id": "NP_001252522.1",
"transcript_support_level": null,
"aa_start": 792,
"aa_end": null,
"aa_length": 1075,
"cds_start": 2375,
"cds_end": null,
"cds_length": 3228,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001265593.2"
},
{
"aa_ref": "E",
"aa_alt": "EEEEEE",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.2361_2375dupGGAGGAGGAGGAGGA",
"hgvs_p": "p.Glu788_Glu792dup",
"transcript": "ENST00000535355.6",
"protein_id": "ENSP00000441445.1",
"transcript_support_level": 2,
"aa_start": 792,
"aa_end": null,
"aa_length": 1075,
"cds_start": 2375,
"cds_end": null,
"cds_length": 3228,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000535355.6"
},
{
"aa_ref": "E",
"aa_alt": "EEEEEE",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.2328_2342dupGGAGGAGGAGGAGGA",
"hgvs_p": "p.Glu777_Glu781dup",
"transcript": "ENST00000377748.6",
"protein_id": "ENSP00000366977.2",
"transcript_support_level": 2,
"aa_start": 781,
"aa_end": null,
"aa_length": 1064,
"cds_start": 2342,
"cds_end": null,
"cds_length": 3195,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377748.6"
},
{
"aa_ref": "E",
"aa_alt": "EEEEEE",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.2265_2279dupGGAGGAGGAGGAGGA",
"hgvs_p": "p.Glu756_Glu760dup",
"transcript": "NM_001042663.3",
"protein_id": "NP_001036128.2",
"transcript_support_level": null,
"aa_start": 760,
"aa_end": null,
"aa_length": 1043,
"cds_start": 2279,
"cds_end": null,
"cds_length": 3132,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042663.3"
},
{
"aa_ref": "E",
"aa_alt": "EEEEEE",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.2265_2279dupGGAGGAGGAGGAGGA",
"hgvs_p": "p.Glu756_Glu760dup",
"transcript": "NM_001265592.2",
"protein_id": "NP_001252521.2",
"transcript_support_level": null,
"aa_start": 760,
"aa_end": null,
"aa_length": 1043,
"cds_start": 2279,
"cds_end": null,
"cds_length": 3132,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001265592.2"
},
{
"aa_ref": "E",
"aa_alt": "EEEEEE",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.2265_2279dupGGAGGAGGAGGAGGA",
"hgvs_p": "p.Glu756_Glu760dup",
"transcript": "ENST00000537245.6",
"protein_id": "ENSP00000439625.2",
"transcript_support_level": 2,
"aa_start": 760,
"aa_end": null,
"aa_length": 1043,
"cds_start": 2279,
"cds_end": null,
"cds_length": 3132,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000537245.6"
},
{
"aa_ref": "E",
"aa_alt": "EEEEEE",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.2193_2207dupGGAGGAGGAGGAGGA",
"hgvs_p": "p.Glu732_Glu736dup",
"transcript": "ENST00000856967.1",
"protein_id": "ENSP00000527026.1",
"transcript_support_level": null,
"aa_start": 736,
"aa_end": null,
"aa_length": 1019,
"cds_start": 2207,
"cds_end": null,
"cds_length": 3060,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856967.1"
},
{
"aa_ref": "E",
"aa_alt": "EEEEEE",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.2154_2168dupGGAGGAGGAGGAGGA",
"hgvs_p": "p.Glu719_Glu723dup",
"transcript": "NM_001042664.2",
"protein_id": "NP_001036129.1",
"transcript_support_level": null,
"aa_start": 723,
"aa_end": null,
"aa_length": 1006,
"cds_start": 2168,
"cds_end": null,
"cds_length": 3021,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042664.2"
},
{
"aa_ref": "E",
"aa_alt": "EEEEEE",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.2154_2168dupGGAGGAGGAGGAGGA",
"hgvs_p": "p.Glu719_Glu723dup",
"transcript": "NM_001042665.2",
"protein_id": "NP_001036130.1",
"transcript_support_level": null,
"aa_start": 723,
"aa_end": null,
"aa_length": 1006,
"cds_start": 2168,
"cds_end": null,
"cds_length": 3021,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042665.2"
},
{
"aa_ref": "E",
"aa_alt": "EEEEEE",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.2154_2168dupGGAGGAGGAGGAGGA",
"hgvs_p": "p.Glu719_Glu723dup",
"transcript": "NM_198681.4",
"protein_id": "NP_941374.3",
"transcript_support_level": null,
"aa_start": 723,
"aa_end": null,
"aa_length": 1006,
"cds_start": 2168,
"cds_end": null,
"cds_length": 3021,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198681.4"
},
{
"aa_ref": "E",
"aa_alt": "EEEEEE",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.2154_2168dupGGAGGAGGAGGAGGA",
"hgvs_p": "p.Glu719_Glu723dup",
"transcript": "ENST00000340850.10",
"protein_id": "ENSP00000344570.5",
"transcript_support_level": 5,
"aa_start": 723,
"aa_end": null,
"aa_length": 1006,
"cds_start": 2168,
"cds_end": null,
"cds_length": 3021,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340850.10"
},
{
"aa_ref": "E",
"aa_alt": "EEEEEE",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.2154_2168dupGGAGGAGGAGGAGGA",
"hgvs_p": "p.Glu719_Glu723dup",
"transcript": "ENST00000400913.6",
"protein_id": "ENSP00000383704.1",
"transcript_support_level": 5,
"aa_start": 723,
"aa_end": null,
"aa_length": 1006,
"cds_start": 2168,
"cds_end": null,
"cds_length": 3021,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000400913.6"
},
{
"aa_ref": "E",
"aa_alt": "EEEEEE",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.2154_2168dupGGAGGAGGAGGAGGA",
"hgvs_p": "p.Glu719_Glu723dup",
"transcript": "ENST00000675694.1",
"protein_id": "ENSP00000501925.1",
"transcript_support_level": null,
"aa_start": 723,
"aa_end": null,
"aa_length": 1006,
"cds_start": 2168,
"cds_end": null,
"cds_length": 3021,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675694.1"
},
{
"aa_ref": "E",
"aa_alt": "EEEEEE",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.2154_2168dupGGAGGAGGAGGAGGA",
"hgvs_p": "p.Glu719_Glu723dup",
"transcript": "ENST00000856966.1",
"protein_id": "ENSP00000527025.1",
"transcript_support_level": null,
"aa_start": 723,
"aa_end": null,
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"hgvs_c": "c.2361_2375dupGGAGGAGGAGGAGGA",
"hgvs_p": "p.Glu788_Glu792dup"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}