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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: 15-40249998-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=40249998&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 40249998,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000560346.6",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PAK6",
"gene_hgnc_id": 16061,
"hgvs_c": "c.-117-3180C>T",
"hgvs_p": null,
"transcript": "NM_001395430.1",
"protein_id": "NP_001382359.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 681,
"cds_start": -4,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4379,
"mane_select": "ENST00000560346.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PAK6",
"gene_hgnc_id": 16061,
"hgvs_c": "c.-117-3180C>T",
"hgvs_p": null,
"transcript": "ENST00000560346.6",
"protein_id": "ENSP00000453858.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 681,
"cds_start": -4,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4379,
"mane_select": "NM_001395430.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PAK6",
"gene_hgnc_id": 16061,
"hgvs_c": "c.-117-3180C>T",
"hgvs_p": null,
"transcript": "ENST00000260404.8",
"protein_id": "ENSP00000260404.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 681,
"cds_start": -4,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3865,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "BUB1B-PAK6",
"gene_hgnc_id": 52276,
"hgvs_c": "n.300-3180C>T",
"hgvs_p": null,
"transcript": "ENST00000559435.1",
"protein_id": "ENSP00000457109.1",
"transcript_support_level": 5,
"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": 608,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BUB1B-PAK6",
"gene_hgnc_id": 52276,
"hgvs_c": "c.-117-3180C>T",
"hgvs_p": null,
"transcript": "NM_001128628.3",
"protein_id": "NP_001122100.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 681,
"cds_start": -4,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3879,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BUB1B-PAK6",
"gene_hgnc_id": 52276,
"hgvs_c": "c.-117-3180C>T",
"hgvs_p": null,
"transcript": "NM_001128629.3",
"protein_id": "NP_001122101.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 681,
"cds_start": -4,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3796,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PAK6",
"gene_hgnc_id": 16061,
"hgvs_c": "c.-117-3180C>T",
"hgvs_p": null,
"transcript": "NM_001395431.1",
"protein_id": "NP_001382360.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 681,
"cds_start": -4,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3369,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PAK6",
"gene_hgnc_id": 16061,
"hgvs_c": "c.-117-3180C>T",
"hgvs_p": null,
"transcript": "NM_020168.6",
"protein_id": "NP_064553.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 681,
"cds_start": -4,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3872,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PAK6",
"gene_hgnc_id": 16061,
"hgvs_c": "c.-117-3180C>T",
"hgvs_p": null,
"transcript": "ENST00000441369.6",
"protein_id": "ENSP00000406873.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 681,
"cds_start": -4,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2767,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PAK6",
"gene_hgnc_id": 16061,
"hgvs_c": "c.-117-3180C>T",
"hgvs_p": null,
"transcript": "ENST00000453867.7",
"protein_id": "ENSP00000401153.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 681,
"cds_start": -4,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2490,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PAK6",
"gene_hgnc_id": 16061,
"hgvs_c": "c.-117-3180C>T",
"hgvs_p": null,
"transcript": "ENST00000558658.6",
"protein_id": "ENSP00000456785.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 681,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2620,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PAK6",
"gene_hgnc_id": 16061,
"hgvs_c": "c.-117-3180C>T",
"hgvs_p": null,
"transcript": "NM_001276718.2",
"protein_id": "NP_001263647.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 636,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 4244,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PAK6",
"gene_hgnc_id": 16061,
"hgvs_c": "c.-117-3180C>T",
"hgvs_p": null,
"transcript": "ENST00000455577.6",
"protein_id": "ENSP00000409465.2",
"transcript_support_level": 2,
"aa_start": null,
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"aa_length": 636,
"cds_start": -4,
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"cdna_start": null,
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PAK6",
"gene_hgnc_id": 16061,
"hgvs_c": "c.-117-3180C>T",
"hgvs_p": null,
"transcript": "ENST00000558055.5",
"protein_id": "ENSP00000453407.1",
"transcript_support_level": 4,
"aa_start": null,
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"cds_start": -4,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PAK6",
"gene_hgnc_id": 16061,
"hgvs_c": "c.-117-3180C>T",
"hgvs_p": null,
"transcript": "ENST00000561230.5",
"protein_id": "ENSP00000453520.1",
"transcript_support_level": 2,
"aa_start": null,
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"aa_length": 103,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PAK6",
"gene_hgnc_id": 16061,
"hgvs_c": "c.-233-3180C>T",
"hgvs_p": null,
"transcript": "ENST00000558183.6",
"protein_id": "ENSP00000452647.2",
"transcript_support_level": 4,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 1,
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"gene_symbol": "PAK6",
"gene_hgnc_id": 16061,
"hgvs_c": "c.-238-3180C>T",
"hgvs_p": null,
"transcript": "ENST00000558878.6",
"protein_id": "ENSP00000452737.2",
"transcript_support_level": 4,
"aa_start": null,
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"aa_length": 50,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PAK6",
"gene_hgnc_id": 16061,
"hgvs_c": "c.-482-3180C>T",
"hgvs_p": null,
"transcript": "ENST00000560806.6",
"protein_id": "ENSP00000453005.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 13,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 561,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000299376",
"gene_hgnc_id": null,
"hgvs_c": "n.330-2833G>A",
"hgvs_p": null,
"transcript": "ENST00000762926.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 666,
"mane_select": null,
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"biotype": null,
"feature": null
}
],
"gene_symbol": "PAK6",
"gene_hgnc_id": 16061,
"dbsnp": "rs2277562",
"frequency_reference_population": 0.14822379,
"hom_count_reference_population": 2093,
"allele_count_reference_population": 22573,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.148224,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 22573,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 2093,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6600000262260437,
"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": -0.66,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.862,
"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": "ENST00000560346.6",
"gene_symbol": "PAK6",
"hgnc_id": 16061,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-117-3180C>T",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000559435.1",
"gene_symbol": "BUB1B-PAK6",
"hgnc_id": 52276,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.300-3180C>T",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000762926.1",
"gene_symbol": "ENSG00000299376",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.330-2833G>A",
"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
}