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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: 12-55965861-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=55965861&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 55965861,
"ref": "A",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000548747.6",
"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": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PMEL",
"gene_hgnc_id": 10880,
"hgvs_c": "c.76+75T>A",
"hgvs_p": null,
"transcript": "NM_001384361.1",
"protein_id": "NP_001371290.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 661,
"cds_start": -4,
"cds_end": null,
"cds_length": 1986,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2126,
"mane_select": "ENST00000548747.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PMEL",
"gene_hgnc_id": 10880,
"hgvs_c": "c.76+75T>A",
"hgvs_p": null,
"transcript": "ENST00000548747.6",
"protein_id": "ENSP00000448828.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 661,
"cds_start": -4,
"cds_end": null,
"cds_length": 1986,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2126,
"mane_select": "NM_001384361.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PMEL",
"gene_hgnc_id": 10880,
"hgvs_c": "c.76+75T>A",
"hgvs_p": null,
"transcript": "ENST00000449260.6",
"protein_id": "ENSP00000402758.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 668,
"cds_start": -4,
"cds_end": null,
"cds_length": 2007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2127,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PMEL",
"gene_hgnc_id": 10880,
"hgvs_c": "c.76+75T>A",
"hgvs_p": null,
"transcript": "NM_001200054.1",
"protein_id": "NP_001186983.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 668,
"cds_start": -4,
"cds_end": null,
"cds_length": 2007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2167,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PMEL",
"gene_hgnc_id": 10880,
"hgvs_c": "c.76+75T>A",
"hgvs_p": null,
"transcript": "NM_006928.5",
"protein_id": "NP_008859.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 661,
"cds_start": -4,
"cds_end": null,
"cds_length": 1986,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PMEL",
"gene_hgnc_id": 10880,
"hgvs_c": "c.76+75T>A",
"hgvs_p": null,
"transcript": "ENST00000548493.5",
"protein_id": "ENSP00000447374.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 661,
"cds_start": -4,
"cds_end": null,
"cds_length": 1986,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2204,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PMEL",
"gene_hgnc_id": 10880,
"hgvs_c": "c.76+75T>A",
"hgvs_p": null,
"transcript": "ENST00000552882.5",
"protein_id": "ENSP00000449690.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 661,
"cds_start": -4,
"cds_end": null,
"cds_length": 1986,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2516,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PMEL",
"gene_hgnc_id": 10880,
"hgvs_c": "c.76+75T>A",
"hgvs_p": null,
"transcript": "NM_001320121.1",
"protein_id": "NP_001307050.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 626,
"cds_start": -4,
"cds_end": null,
"cds_length": 1881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2041,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PMEL",
"gene_hgnc_id": 10880,
"hgvs_c": "c.76+75T>A",
"hgvs_p": null,
"transcript": "NM_001320122.1",
"protein_id": "NP_001307051.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 619,
"cds_start": -4,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2020,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PMEL",
"gene_hgnc_id": 10880,
"hgvs_c": "c.76+75T>A",
"hgvs_p": null,
"transcript": "NM_001200053.1",
"protein_id": "NP_001186982.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 575,
"cds_start": -4,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1888,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PMEL",
"gene_hgnc_id": 10880,
"hgvs_c": "c.76+75T>A",
"hgvs_p": null,
"transcript": "ENST00000550464.5",
"protein_id": "ENSP00000450036.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 575,
"cds_start": -4,
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"cds_length": 1728,
"cdna_start": null,
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"cdna_length": 1867,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PMEL",
"gene_hgnc_id": 10880,
"hgvs_c": "c.76+75T>A",
"hgvs_p": null,
"transcript": "ENST00000547137.5",
"protein_id": "ENSP00000448849.1",
"transcript_support_level": 2,
"aa_start": null,
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"aa_length": 343,
"cds_start": -4,
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"cdna_start": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PMEL",
"gene_hgnc_id": 10880,
"hgvs_c": "c.76+75T>A",
"hgvs_p": null,
"transcript": "ENST00000546543.5",
"protein_id": "ENSP00000446662.1",
"transcript_support_level": 2,
"aa_start": null,
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"aa_length": 298,
"cds_start": -4,
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"cds_length": 897,
"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": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 1,
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"gene_symbol": "PMEL",
"gene_hgnc_id": 10880,
"hgvs_c": "c.76+75T>A",
"hgvs_p": null,
"transcript": "ENST00000548803.5",
"protein_id": "ENSP00000447732.1",
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"aa_start": null,
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"cds_start": -4,
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 1,
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"gene_symbol": "PMEL",
"gene_hgnc_id": 10880,
"hgvs_c": "c.76+75T>A",
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"transcript": "ENST00000550447.5",
"protein_id": "ENSP00000448029.1",
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"aa_start": null,
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"cds_start": -4,
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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": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PMEL",
"gene_hgnc_id": 10880,
"hgvs_c": "c.76+75T>A",
"hgvs_p": null,
"transcript": "ENST00000549418.5",
"protein_id": "ENSP00000446633.1",
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"cds_start": -4,
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},
{
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],
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"intron_rank": 3,
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"gene_symbol": "PMEL",
"gene_hgnc_id": 10880,
"hgvs_c": "c.86-4129T>A",
"hgvs_p": null,
"transcript": "ENST00000549233.2",
"protein_id": "ENSP00000448871.1",
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"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": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PMEL",
"gene_hgnc_id": 10880,
"hgvs_c": "n.32+817T>A",
"hgvs_p": null,
"transcript": "ENST00000548689.5",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
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"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PMEL",
"gene_hgnc_id": 10880,
"hgvs_c": "n.86+75T>A",
"hgvs_p": null,
"transcript": "ENST00000549413.1",
"protein_id": null,
"transcript_support_level": 2,
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},
{
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"protein_coding": false,
"strand": false,
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"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 1,
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"gene_symbol": "PMEL",
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"hgvs_c": "n.32+817T>A",
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"transcript": "ENST00000549430.5",
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},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PMEL",
"gene_hgnc_id": 10880,
"hgvs_c": "n.107+75T>A",
"hgvs_p": null,
"transcript": "ENST00000550590.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PMEL",
"gene_hgnc_id": 10880,
"dbsnp": "rs2069390",
"frequency_reference_population": 0.000015286994,
"hom_count_reference_population": 0,
"allele_count_reference_population": 24,
"gnomad_exomes_af": 0.0000063481,
"gnomad_genomes_af": 0.0000985442,
"gnomad_exomes_ac": 9,
"gnomad_genomes_ac": 15,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7200000286102295,
"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": -0.72,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.287,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000548747.6",
"gene_symbol": "PMEL",
"hgnc_id": 10880,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.76+75T>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
}