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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: 1-6471499-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=6471499&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 6471499,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000377728.8",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.1270G>T",
"hgvs_p": "p.Gly424Cys",
"transcript": "NM_020631.6",
"protein_id": "NP_065682.2",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 1006,
"cds_start": 1270,
"cds_end": null,
"cds_length": 3021,
"cdna_start": 1388,
"cdna_end": null,
"cdna_length": 3580,
"mane_select": "ENST00000377728.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.1270G>T",
"hgvs_p": "p.Gly424Cys",
"transcript": "ENST00000377728.8",
"protein_id": "ENSP00000366957.3",
"transcript_support_level": 2,
"aa_start": 424,
"aa_end": null,
"aa_length": 1006,
"cds_start": 1270,
"cds_end": null,
"cds_length": 3021,
"cdna_start": 1388,
"cdna_end": null,
"cdna_length": 3580,
"mane_select": "NM_020631.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.1381G>T",
"hgvs_p": "p.Gly461Cys",
"transcript": "ENST00000377732.5",
"protein_id": "ENSP00000366961.1",
"transcript_support_level": 1,
"aa_start": 461,
"aa_end": null,
"aa_length": 1043,
"cds_start": 1381,
"cds_end": null,
"cds_length": 3132,
"cdna_start": 1561,
"cdna_end": null,
"cdna_length": 3753,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.1381G>T",
"hgvs_p": "p.Gly461Cys",
"transcript": "ENST00000400915.8",
"protein_id": "ENSP00000383706.4",
"transcript_support_level": 1,
"aa_start": 461,
"aa_end": null,
"aa_length": 1043,
"cds_start": 1381,
"cds_end": null,
"cds_length": 3132,
"cdna_start": 1539,
"cdna_end": null,
"cdna_length": 3731,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.1270G>T",
"hgvs_p": "p.Gly424Cys",
"transcript": "ENST00000377740.5",
"protein_id": "ENSP00000366969.4",
"transcript_support_level": 1,
"aa_start": 424,
"aa_end": null,
"aa_length": 1006,
"cds_start": 1270,
"cds_end": null,
"cds_length": 3021,
"cdna_start": 1999,
"cdna_end": null,
"cdna_length": 4191,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.1270G>T",
"hgvs_p": "p.Gly424Cys",
"transcript": "ENST00000377725.5",
"protein_id": "ENSP00000366954.1",
"transcript_support_level": 1,
"aa_start": 424,
"aa_end": null,
"aa_length": 930,
"cds_start": 1270,
"cds_end": null,
"cds_length": 2793,
"cdna_start": 1483,
"cdna_end": null,
"cdna_length": 3475,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.1567G>T",
"hgvs_p": "p.Gly523Cys",
"transcript": "ENST00000673471.2",
"protein_id": "ENSP00000500749.1",
"transcript_support_level": null,
"aa_start": 523,
"aa_end": null,
"aa_length": 1105,
"cds_start": 1567,
"cds_end": null,
"cds_length": 3318,
"cdna_start": 1567,
"cdna_end": null,
"cdna_length": 3759,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.1477G>T",
"hgvs_p": "p.Gly493Cys",
"transcript": "NM_001265593.2",
"protein_id": "NP_001252522.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 1075,
"cds_start": 1477,
"cds_end": null,
"cds_length": 3228,
"cdna_start": 1501,
"cdna_end": null,
"cdna_length": 3693,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.1477G>T",
"hgvs_p": "p.Gly493Cys",
"transcript": "ENST00000535355.6",
"protein_id": "ENSP00000441445.1",
"transcript_support_level": 2,
"aa_start": 493,
"aa_end": null,
"aa_length": 1075,
"cds_start": 1477,
"cds_end": null,
"cds_length": 3228,
"cdna_start": 1503,
"cdna_end": null,
"cdna_length": 3695,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.1444G>T",
"hgvs_p": "p.Gly482Cys",
"transcript": "ENST00000377748.6",
"protein_id": "ENSP00000366977.2",
"transcript_support_level": 2,
"aa_start": 482,
"aa_end": null,
"aa_length": 1064,
"cds_start": 1444,
"cds_end": null,
"cds_length": 3195,
"cdna_start": 1497,
"cdna_end": null,
"cdna_length": 3689,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.1381G>T",
"hgvs_p": "p.Gly461Cys",
"transcript": "NM_001042663.3",
"protein_id": "NP_001036128.2",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 1043,
"cds_start": 1381,
"cds_end": null,
"cds_length": 3132,
"cdna_start": 1527,
"cdna_end": null,
"cdna_length": 3719,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.1381G>T",
"hgvs_p": "p.Gly461Cys",
"transcript": "NM_001265592.2",
"protein_id": "NP_001252521.2",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 1043,
"cds_start": 1381,
"cds_end": null,
"cds_length": 3132,
"cdna_start": 1707,
"cdna_end": null,
"cdna_length": 3899,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.1381G>T",
"hgvs_p": "p.Gly461Cys",
"transcript": "ENST00000537245.6",
"protein_id": "ENSP00000439625.2",
"transcript_support_level": 2,
"aa_start": 461,
"aa_end": null,
"aa_length": 1043,
"cds_start": 1381,
"cds_end": null,
"cds_length": 3132,
"cdna_start": 1572,
"cdna_end": null,
"cdna_length": 3381,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.1270G>T",
"hgvs_p": "p.Gly424Cys",
"transcript": "NM_001042664.2",
"protein_id": "NP_001036129.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 1006,
"cds_start": 1270,
"cds_end": null,
"cds_length": 3021,
"cdna_start": 1493,
"cdna_end": null,
"cdna_length": 3685,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.1270G>T",
"hgvs_p": "p.Gly424Cys",
"transcript": "NM_001042665.2",
"protein_id": "NP_001036130.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 1006,
"cds_start": 1270,
"cds_end": null,
"cds_length": 3021,
"cdna_start": 1473,
"cdna_end": null,
"cdna_length": 3665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.1270G>T",
"hgvs_p": "p.Gly424Cys",
"transcript": "NM_198681.4",
"protein_id": "NP_941374.3",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 1006,
"cds_start": 1270,
"cds_end": null,
"cds_length": 3021,
"cdna_start": 2082,
"cdna_end": null,
"cdna_length": 4274,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.1270G>T",
"hgvs_p": "p.Gly424Cys",
"transcript": "ENST00000340850.10",
"protein_id": "ENSP00000344570.5",
"transcript_support_level": 5,
"aa_start": 424,
"aa_end": null,
"aa_length": 1006,
"cds_start": 1270,
"cds_end": null,
"cds_length": 3021,
"cdna_start": 1507,
"cdna_end": null,
"cdna_length": 3699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.1270G>T",
"hgvs_p": "p.Gly424Cys",
"transcript": "ENST00000400913.6",
"protein_id": "ENSP00000383704.1",
"transcript_support_level": 5,
"aa_start": 424,
"aa_end": null,
"aa_length": 1006,
"cds_start": 1270,
"cds_end": null,
"cds_length": 3021,
"cdna_start": 1476,
"cdna_end": null,
"cdna_length": 3668,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.1270G>T",
"hgvs_p": "p.Gly424Cys",
"transcript": "ENST00000675694.1",
"protein_id": "ENSP00000501925.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 1006,
"cds_start": 1270,
"cds_end": null,
"cds_length": 3021,
"cdna_start": 1451,
"cdna_end": null,
"cdna_length": 3637,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.1270G>T",
"hgvs_p": "p.Gly424Cys",
"transcript": "NM_001265594.3",
"protein_id": "NP_001252523.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 930,
"cds_start": 1270,
"cds_end": null,
"cds_length": 2793,
"cdna_start": 1493,
"cdna_end": null,
"cdna_length": 3485,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.1270G>T",
"hgvs_p": "p.Gly424Cys",
"transcript": "ENST00000675123.1",
"protein_id": "ENSP00000502132.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 775,
"cds_start": 1270,
"cds_end": null,
"cds_length": 2328,
"cdna_start": 1357,
"cdna_end": null,
"cdna_length": 2708,
"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": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "n.85G>T",
"hgvs_p": null,
"transcript": "ENST00000487949.4",
"protein_id": null,
"transcript_support_level": 2,
"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": 2664,
"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": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
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"gene_symbol": "PLEKHG5",
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}
],
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"hom_count_reference_population": 0,
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"computational_prediction_selected": "Pathogenic",
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Uncertain_significance",
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"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.198,
"phylop100way_prediction": "Uncertain_significance",
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"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
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{
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"verdict": "Uncertain_significance",
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"effects": [
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"inheritance_mode": "AR",
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"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}