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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: 2-239166779-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=239166779&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 239166779,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "NM_001378414.1",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.491-2856C>T",
"hgvs_p": null,
"transcript": "NM_001378414.1",
"protein_id": "NP_001365343.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1089,
"cds_start": null,
"cds_end": null,
"cds_length": 3270,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000543185.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378414.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.491-2856C>T",
"hgvs_p": null,
"transcript": "ENST00000543185.6",
"protein_id": "ENSP00000440481.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1089,
"cds_start": null,
"cds_end": null,
"cds_length": 3270,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001378414.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000543185.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.491-2856C>T",
"hgvs_p": null,
"transcript": "ENST00000345617.7",
"protein_id": "ENSP00000264606.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1084,
"cds_start": null,
"cds_end": null,
"cds_length": 3255,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000345617.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "n.943-2856C>T",
"hgvs_p": null,
"transcript": "ENST00000463007.5",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000463007.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "n.963-2856C>T",
"hgvs_p": null,
"transcript": "ENST00000493582.5",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000493582.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.491-2856C>T",
"hgvs_p": null,
"transcript": "NM_001378415.1",
"protein_id": "NP_001365344.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1089,
"cds_start": null,
"cds_end": null,
"cds_length": 3270,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378415.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.491-2856C>T",
"hgvs_p": null,
"transcript": "ENST00000896768.1",
"protein_id": "ENSP00000566827.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1089,
"cds_start": null,
"cds_end": null,
"cds_length": 3270,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896768.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.491-2856C>T",
"hgvs_p": null,
"transcript": "ENST00000913664.1",
"protein_id": "ENSP00000583723.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1089,
"cds_start": null,
"cds_end": null,
"cds_length": 3270,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913664.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.491-2856C>T",
"hgvs_p": null,
"transcript": "ENST00000913672.1",
"protein_id": "ENSP00000583731.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1089,
"cds_start": null,
"cds_end": null,
"cds_length": 3270,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913672.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.491-2856C>T",
"hgvs_p": null,
"transcript": "ENST00000913671.1",
"protein_id": "ENSP00000583730.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1087,
"cds_start": null,
"cds_end": null,
"cds_length": 3264,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913671.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.491-2856C>T",
"hgvs_p": null,
"transcript": "ENST00000971555.1",
"protein_id": "ENSP00000641614.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1087,
"cds_start": null,
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"cds_length": 3264,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971555.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.491-2856C>T",
"hgvs_p": null,
"transcript": "NM_001378416.1",
"protein_id": "NP_001365345.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1084,
"cds_start": null,
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"cds_length": 3255,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378416.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.491-2856C>T",
"hgvs_p": null,
"transcript": "NM_001378417.1",
"protein_id": "NP_001365346.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378417.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.491-2856C>T",
"hgvs_p": null,
"transcript": "NM_006037.4",
"protein_id": "NP_006028.2",
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006037.4"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.491-2856C>T",
"hgvs_p": null,
"transcript": "ENST00000896770.1",
"protein_id": "ENSP00000566829.1",
"transcript_support_level": null,
"aa_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896770.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 27,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.491-2856C>T",
"hgvs_p": null,
"transcript": "ENST00000896771.1",
"protein_id": "ENSP00000566830.1",
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"biotype": "protein_coding",
"feature": "ENST00000896771.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.491-2856C>T",
"hgvs_p": null,
"transcript": "ENST00000913662.1",
"protein_id": "ENSP00000583721.1",
"transcript_support_level": null,
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"biotype": "protein_coding",
"feature": "ENST00000913662.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.491-2856C>T",
"hgvs_p": null,
"transcript": "ENST00000913665.1",
"protein_id": "ENSP00000583724.1",
"transcript_support_level": null,
"aa_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000913665.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 5,
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"gene_symbol": "HDAC4",
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"hgvs_c": "c.491-2856C>T",
"hgvs_p": null,
"transcript": "ENST00000913673.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.491-2856C>T",
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"transcript": "ENST00000896769.1",
"protein_id": "ENSP00000566828.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.419-2856C>T",
"hgvs_p": null,
"transcript": "ENST00000913667.1",
"protein_id": "ENSP00000583726.1",
"transcript_support_level": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913667.1"
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.410-2856C>T",
"hgvs_p": null,
"transcript": "NM_001435991.1",
"protein_id": "NP_001422920.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1062,
"cds_start": null,
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"cds_length": 3189,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001435991.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000535493.5"
}
],
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"dbsnp": "rs3791523",
"frequency_reference_population": 0.18501282,
"hom_count_reference_population": 3001,
"allele_count_reference_population": 28146,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.185013,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 28146,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 3001,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9100000262260437,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.91,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.65,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001378414.1",
"gene_symbol": "HDAC4",
"hgnc_id": 14063,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.491-2856C>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}