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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: 1-6468294-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=6468294&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 6468294,
"ref": "G",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000377728.8",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.2542C>A",
"hgvs_p": "p.Arg848Arg",
"transcript": "NM_020631.6",
"protein_id": "NP_065682.2",
"transcript_support_level": null,
"aa_start": 848,
"aa_end": null,
"aa_length": 1006,
"cds_start": 2542,
"cds_end": null,
"cds_length": 3021,
"cdna_start": 2660,
"cdna_end": null,
"cdna_length": 3580,
"mane_select": "ENST00000377728.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.2542C>A",
"hgvs_p": "p.Arg848Arg",
"transcript": "ENST00000377728.8",
"protein_id": "ENSP00000366957.3",
"transcript_support_level": 2,
"aa_start": 848,
"aa_end": null,
"aa_length": 1006,
"cds_start": 2542,
"cds_end": null,
"cds_length": 3021,
"cdna_start": 2660,
"cdna_end": null,
"cdna_length": 3580,
"mane_select": "NM_020631.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.2653C>A",
"hgvs_p": "p.Arg885Arg",
"transcript": "ENST00000377732.5",
"protein_id": "ENSP00000366961.1",
"transcript_support_level": 1,
"aa_start": 885,
"aa_end": null,
"aa_length": 1043,
"cds_start": 2653,
"cds_end": null,
"cds_length": 3132,
"cdna_start": 2833,
"cdna_end": null,
"cdna_length": 3753,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.2653C>A",
"hgvs_p": "p.Arg885Arg",
"transcript": "ENST00000400915.8",
"protein_id": "ENSP00000383706.4",
"transcript_support_level": 1,
"aa_start": 885,
"aa_end": null,
"aa_length": 1043,
"cds_start": 2653,
"cds_end": null,
"cds_length": 3132,
"cdna_start": 2811,
"cdna_end": null,
"cdna_length": 3731,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.2542C>A",
"hgvs_p": "p.Arg848Arg",
"transcript": "ENST00000377740.5",
"protein_id": "ENSP00000366969.4",
"transcript_support_level": 1,
"aa_start": 848,
"aa_end": null,
"aa_length": 1006,
"cds_start": 2542,
"cds_end": null,
"cds_length": 3021,
"cdna_start": 3271,
"cdna_end": null,
"cdna_length": 4191,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"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.2542C>A",
"hgvs_p": "p.Arg848Arg",
"transcript": "ENST00000377725.5",
"protein_id": "ENSP00000366954.1",
"transcript_support_level": 1,
"aa_start": 848,
"aa_end": null,
"aa_length": 930,
"cds_start": 2542,
"cds_end": null,
"cds_length": 2793,
"cdna_start": 2755,
"cdna_end": null,
"cdna_length": 3475,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.2839C>A",
"hgvs_p": "p.Arg947Arg",
"transcript": "ENST00000673471.2",
"protein_id": "ENSP00000500749.1",
"transcript_support_level": null,
"aa_start": 947,
"aa_end": null,
"aa_length": 1105,
"cds_start": 2839,
"cds_end": null,
"cds_length": 3318,
"cdna_start": 2839,
"cdna_end": null,
"cdna_length": 3759,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.2749C>A",
"hgvs_p": "p.Arg917Arg",
"transcript": "NM_001265593.2",
"protein_id": "NP_001252522.1",
"transcript_support_level": null,
"aa_start": 917,
"aa_end": null,
"aa_length": 1075,
"cds_start": 2749,
"cds_end": null,
"cds_length": 3228,
"cdna_start": 2773,
"cdna_end": null,
"cdna_length": 3693,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.2749C>A",
"hgvs_p": "p.Arg917Arg",
"transcript": "ENST00000535355.6",
"protein_id": "ENSP00000441445.1",
"transcript_support_level": 2,
"aa_start": 917,
"aa_end": null,
"aa_length": 1075,
"cds_start": 2749,
"cds_end": null,
"cds_length": 3228,
"cdna_start": 2775,
"cdna_end": null,
"cdna_length": 3695,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.2716C>A",
"hgvs_p": "p.Arg906Arg",
"transcript": "ENST00000377748.6",
"protein_id": "ENSP00000366977.2",
"transcript_support_level": 2,
"aa_start": 906,
"aa_end": null,
"aa_length": 1064,
"cds_start": 2716,
"cds_end": null,
"cds_length": 3195,
"cdna_start": 2769,
"cdna_end": null,
"cdna_length": 3689,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.2653C>A",
"hgvs_p": "p.Arg885Arg",
"transcript": "NM_001042663.3",
"protein_id": "NP_001036128.2",
"transcript_support_level": null,
"aa_start": 885,
"aa_end": null,
"aa_length": 1043,
"cds_start": 2653,
"cds_end": null,
"cds_length": 3132,
"cdna_start": 2799,
"cdna_end": null,
"cdna_length": 3719,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.2653C>A",
"hgvs_p": "p.Arg885Arg",
"transcript": "NM_001265592.2",
"protein_id": "NP_001252521.2",
"transcript_support_level": null,
"aa_start": 885,
"aa_end": null,
"aa_length": 1043,
"cds_start": 2653,
"cds_end": null,
"cds_length": 3132,
"cdna_start": 2979,
"cdna_end": null,
"cdna_length": 3899,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.2653C>A",
"hgvs_p": "p.Arg885Arg",
"transcript": "ENST00000537245.6",
"protein_id": "ENSP00000439625.2",
"transcript_support_level": 2,
"aa_start": 885,
"aa_end": null,
"aa_length": 1043,
"cds_start": 2653,
"cds_end": null,
"cds_length": 3132,
"cdna_start": 2844,
"cdna_end": null,
"cdna_length": 3381,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.2542C>A",
"hgvs_p": "p.Arg848Arg",
"transcript": "NM_001042664.2",
"protein_id": "NP_001036129.1",
"transcript_support_level": null,
"aa_start": 848,
"aa_end": null,
"aa_length": 1006,
"cds_start": 2542,
"cds_end": null,
"cds_length": 3021,
"cdna_start": 2765,
"cdna_end": null,
"cdna_length": 3685,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.2542C>A",
"hgvs_p": "p.Arg848Arg",
"transcript": "NM_001042665.2",
"protein_id": "NP_001036130.1",
"transcript_support_level": null,
"aa_start": 848,
"aa_end": null,
"aa_length": 1006,
"cds_start": 2542,
"cds_end": null,
"cds_length": 3021,
"cdna_start": 2745,
"cdna_end": null,
"cdna_length": 3665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.2542C>A",
"hgvs_p": "p.Arg848Arg",
"transcript": "NM_198681.4",
"protein_id": "NP_941374.3",
"transcript_support_level": null,
"aa_start": 848,
"aa_end": null,
"aa_length": 1006,
"cds_start": 2542,
"cds_end": null,
"cds_length": 3021,
"cdna_start": 3354,
"cdna_end": null,
"cdna_length": 4274,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.2542C>A",
"hgvs_p": "p.Arg848Arg",
"transcript": "ENST00000340850.10",
"protein_id": "ENSP00000344570.5",
"transcript_support_level": 5,
"aa_start": 848,
"aa_end": null,
"aa_length": 1006,
"cds_start": 2542,
"cds_end": null,
"cds_length": 3021,
"cdna_start": 2779,
"cdna_end": null,
"cdna_length": 3699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.2542C>A",
"hgvs_p": "p.Arg848Arg",
"transcript": "ENST00000400913.6",
"protein_id": "ENSP00000383704.1",
"transcript_support_level": 5,
"aa_start": 848,
"aa_end": null,
"aa_length": 1006,
"cds_start": 2542,
"cds_end": null,
"cds_length": 3021,
"cdna_start": 2748,
"cdna_end": null,
"cdna_length": 3668,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.2542C>A",
"hgvs_p": "p.Arg848Arg",
"transcript": "ENST00000675694.1",
"protein_id": "ENSP00000501925.1",
"transcript_support_level": null,
"aa_start": 848,
"aa_end": null,
"aa_length": 1006,
"cds_start": 2542,
"cds_end": null,
"cds_length": 3021,
"cdna_start": 2723,
"cdna_end": null,
"cdna_length": 3637,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"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.2542C>A",
"hgvs_p": "p.Arg848Arg",
"transcript": "NM_001265594.3",
"protein_id": "NP_001252523.1",
"transcript_support_level": null,
"aa_start": 848,
"aa_end": null,
"aa_length": 930,
"cds_start": 2542,
"cds_end": null,
"cds_length": 2793,
"cdna_start": 2765,
"cdna_end": null,
"cdna_length": 3485,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.415C>A",
"hgvs_p": "p.Arg139Arg",
"transcript": "ENST00000675976.1",
"protein_id": "ENSP00000501611.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 295,
"cds_start": 415,
"cds_end": null,
"cds_length": 888,
"cdna_start": 415,
"cdna_end": null,
"cdna_length": 954,
"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": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "n.1744C>A",
"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": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
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"gene_symbol": "PLEKHG5",
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],
"gene_symbol": "PLEKHG5",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.74,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"acmg_by_gene": [
{
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"BP4_Strong",
"BP7"
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"verdict": "Likely_benign",
"transcript": "ENST00000377728.8",
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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
}