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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: 12-19191284-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=19191284&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "PLEKHA5",
"hgnc_id": 30036,
"hgvs_c": "c.227+58834G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_001256470.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 84847,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.87,
"chr": "12",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8700000047683716,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1282,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4797,
"cdna_start": null,
"cds_end": null,
"cds_length": 3849,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001256470.2",
"gene_hgnc_id": 30036,
"gene_symbol": "PLEKHA5",
"hgvs_c": "c.227+58834G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000429027.7",
"protein_coding": true,
"protein_id": "NP_001243399.1",
"strand": true,
"transcript": "NM_001256470.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1282,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4797,
"cdna_start": null,
"cds_end": null,
"cds_length": 3849,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000429027.7",
"gene_hgnc_id": 30036,
"gene_symbol": "PLEKHA5",
"hgvs_c": "c.227+58834G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001256470.2",
"protein_coding": true,
"protein_id": "ENSP00000404296.2",
"strand": true,
"transcript": "ENST00000429027.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1174,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6487,
"cdna_start": null,
"cds_end": null,
"cds_length": 3525,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000538714.5",
"gene_hgnc_id": 30036,
"gene_symbol": "PLEKHA5",
"hgvs_c": "c.227+58834G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000439673.1",
"strand": true,
"transcript": "ENST00000538714.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1116,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4238,
"cdna_start": null,
"cds_end": null,
"cds_length": 3351,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000299275.10",
"gene_hgnc_id": 30036,
"gene_symbol": "PLEKHA5",
"hgvs_c": "c.227+58834G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000299275.6",
"strand": true,
"transcript": "ENST00000299275.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 76,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1954,
"cdna_start": null,
"cds_end": null,
"cds_length": 231,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000540972.5",
"gene_hgnc_id": 30036,
"gene_symbol": "PLEKHA5",
"hgvs_c": "c.228-9041G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000439396.1",
"strand": true,
"transcript": "ENST00000540972.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1276,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4779,
"cdna_start": null,
"cds_end": null,
"cds_length": 3831,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 31,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001385923.1",
"gene_hgnc_id": 30036,
"gene_symbol": "PLEKHA5",
"hgvs_c": "c.227+58834G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372852.1",
"strand": true,
"transcript": "NM_001385923.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1270,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4761,
"cdna_start": null,
"cds_end": null,
"cds_length": 3813,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 31,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001385924.1",
"gene_hgnc_id": 30036,
"gene_symbol": "PLEKHA5",
"hgvs_c": "c.227+58834G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372853.1",
"strand": true,
"transcript": "NM_001385924.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1270,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4923,
"cdna_start": null,
"cds_end": null,
"cds_length": 3813,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 31,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000954865.1",
"gene_hgnc_id": 30036,
"gene_symbol": "PLEKHA5",
"hgvs_c": "c.227+58834G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624924.1",
"strand": true,
"transcript": "ENST00000954865.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1264,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4743,
"cdna_start": null,
"cds_end": null,
"cds_length": 3795,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001385925.1",
"gene_hgnc_id": 30036,
"gene_symbol": "PLEKHA5",
"hgvs_c": "c.227+58834G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372854.1",
"strand": true,
"transcript": "NM_001385925.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1262,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4691,
"cdna_start": null,
"cds_end": null,
"cds_length": 3789,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 31,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001385926.1",
"gene_hgnc_id": 30036,
"gene_symbol": "PLEKHA5",
"hgvs_c": "c.227+58834G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372855.1",
"strand": true,
"transcript": "NM_001385926.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 1242,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4677,
"cdna_start": null,
"cds_end": null,
"cds_length": 3729,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001385927.1",
"gene_hgnc_id": 30036,
"gene_symbol": "PLEKHA5",
"hgvs_c": "c.227+58834G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372856.1",
"strand": true,
"transcript": "NM_001385927.1",
"transcript_support_level": null
},
{
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"aa_length": 1226,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4629,
"cdna_start": null,
"cds_end": null,
"cds_length": 3681,
"cds_start": null,
"consequences": [
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],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001385928.1",
"gene_hgnc_id": 30036,
"gene_symbol": "PLEKHA5",
"hgvs_c": "c.227+58834G>A",
"hgvs_p": null,
"intron_rank": 3,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372857.1",
"strand": true,
"transcript": "NM_001385928.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
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"consequences": [
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],
"exon_count": 31,
"exon_rank": null,
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"feature": "NM_001385929.1",
"gene_hgnc_id": 30036,
"gene_symbol": "PLEKHA5",
"hgvs_c": "c.227+58834G>A",
"hgvs_p": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372858.1",
"strand": true,
"transcript": "NM_001385929.1",
"transcript_support_level": null
},
{
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"aa_length": 1213,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4590,
"cdna_start": null,
"cds_end": null,
"cds_length": 3642,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001385930.1",
"gene_hgnc_id": 30036,
"gene_symbol": "PLEKHA5",
"hgvs_c": "c.227+58834G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372859.1",
"strand": true,
"transcript": "NM_001385930.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 30,
"exon_rank": null,
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"feature": "NM_001385931.1",
"gene_hgnc_id": 30036,
"gene_symbol": "PLEKHA5",
"hgvs_c": "c.227+58834G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001372860.1",
"strand": true,
"transcript": "NM_001385931.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 3624,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000954868.1",
"gene_hgnc_id": 30036,
"gene_symbol": "PLEKHA5",
"hgvs_c": "c.227+58834G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624927.1",
"strand": true,
"transcript": "ENST00000954868.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4537,
"cdna_start": null,
"cds_end": null,
"cds_length": 3594,
"cds_start": null,
"consequences": [
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],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000954869.1",
"gene_hgnc_id": 30036,
"gene_symbol": "PLEKHA5",
"hgvs_c": "c.227+58834G>A",
"hgvs_p": null,
"intron_rank": 3,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000624928.1",
"strand": true,
"transcript": "ENST00000954869.1",
"transcript_support_level": null
},
{
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"canonical": false,
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"cdna_length": 4488,
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"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 27,
"exon_rank": null,
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"feature": "NM_001385932.1",
"gene_hgnc_id": 30036,
"gene_symbol": "PLEKHA5",
"hgvs_c": "c.227+58834G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001372861.1",
"strand": true,
"transcript": "NM_001385932.1",
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},
{
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 27,
"exon_rank": null,
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"feature": "ENST00000930146.1",
"gene_hgnc_id": 30036,
"gene_symbol": "PLEKHA5",
"hgvs_c": "c.227+58834G>A",
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"intron_rank": 3,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000600205.1",
"strand": true,
"transcript": "ENST00000930146.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
"cds_length": 3525,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001143821.3",
"gene_hgnc_id": 30036,
"gene_symbol": "PLEKHA5",
"hgvs_c": "c.227+58834G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001137293.2",
"strand": true,
"transcript": "NM_001143821.3",
"transcript_support_level": null
},
{
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4473,
"cdna_start": null,
"cds_end": null,
"cds_length": 3525,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001385968.1",
"gene_hgnc_id": 30036,
"gene_symbol": "PLEKHA5",
"hgvs_c": "c.227+58834G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372897.1",
"strand": true,
"transcript": "NM_001385968.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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