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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: 12-55956109-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=55956109&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 55956109,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000548747.6",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMEL",
"gene_hgnc_id": 10880,
"hgvs_c": "c.1465A>G",
"hgvs_p": "p.Ile489Val",
"transcript": "NM_001384361.1",
"protein_id": "NP_001371290.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 661,
"cds_start": 1465,
"cds_end": null,
"cds_length": 1986,
"cdna_start": 1496,
"cdna_end": null,
"cdna_length": 2126,
"mane_select": "ENST00000548747.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMEL",
"gene_hgnc_id": 10880,
"hgvs_c": "c.1465A>G",
"hgvs_p": "p.Ile489Val",
"transcript": "ENST00000548747.6",
"protein_id": "ENSP00000448828.1",
"transcript_support_level": 1,
"aa_start": 489,
"aa_end": null,
"aa_length": 661,
"cds_start": 1465,
"cds_end": null,
"cds_length": 1986,
"cdna_start": 1496,
"cdna_end": null,
"cdna_length": 2126,
"mane_select": "NM_001384361.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMEL",
"gene_hgnc_id": 10880,
"hgvs_c": "c.1465A>G",
"hgvs_p": "p.Ile489Val",
"transcript": "ENST00000449260.6",
"protein_id": "ENSP00000402758.2",
"transcript_support_level": 1,
"aa_start": 489,
"aa_end": null,
"aa_length": 668,
"cds_start": 1465,
"cds_end": null,
"cds_length": 2007,
"cdna_start": 1476,
"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": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMEL",
"gene_hgnc_id": 10880,
"hgvs_c": "n.431A>G",
"hgvs_p": null,
"transcript": "ENST00000550762.1",
"protein_id": null,
"transcript_support_level": 1,
"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": 505,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMEL",
"gene_hgnc_id": 10880,
"hgvs_c": "c.1465A>G",
"hgvs_p": "p.Ile489Val",
"transcript": "NM_001200054.1",
"protein_id": "NP_001186983.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 668,
"cds_start": 1465,
"cds_end": null,
"cds_length": 2007,
"cdna_start": 1516,
"cdna_end": null,
"cdna_length": 2167,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMEL",
"gene_hgnc_id": 10880,
"hgvs_c": "c.1465A>G",
"hgvs_p": "p.Ile489Val",
"transcript": "NM_006928.5",
"protein_id": "NP_008859.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 661,
"cds_start": 1465,
"cds_end": null,
"cds_length": 1986,
"cdna_start": 1548,
"cdna_end": null,
"cdna_length": 2178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMEL",
"gene_hgnc_id": 10880,
"hgvs_c": "c.1465A>G",
"hgvs_p": "p.Ile489Val",
"transcript": "ENST00000548493.5",
"protein_id": "ENSP00000447374.1",
"transcript_support_level": 2,
"aa_start": 489,
"aa_end": null,
"aa_length": 661,
"cds_start": 1465,
"cds_end": null,
"cds_length": 1986,
"cdna_start": 1575,
"cdna_end": null,
"cdna_length": 2204,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMEL",
"gene_hgnc_id": 10880,
"hgvs_c": "c.1465A>G",
"hgvs_p": "p.Ile489Val",
"transcript": "ENST00000552882.5",
"protein_id": "ENSP00000449690.1",
"transcript_support_level": 5,
"aa_start": 489,
"aa_end": null,
"aa_length": 661,
"cds_start": 1465,
"cds_end": null,
"cds_length": 1986,
"cdna_start": 1886,
"cdna_end": null,
"cdna_length": 2516,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMEL",
"gene_hgnc_id": 10880,
"hgvs_c": "c.1339A>G",
"hgvs_p": "p.Ile447Val",
"transcript": "NM_001320121.1",
"protein_id": "NP_001307050.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 626,
"cds_start": 1339,
"cds_end": null,
"cds_length": 1881,
"cdna_start": 1390,
"cdna_end": null,
"cdna_length": 2041,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMEL",
"gene_hgnc_id": 10880,
"hgvs_c": "c.1339A>G",
"hgvs_p": "p.Ile447Val",
"transcript": "NM_001320122.1",
"protein_id": "NP_001307051.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 619,
"cds_start": 1339,
"cds_end": null,
"cds_length": 1860,
"cdna_start": 1390,
"cdna_end": null,
"cdna_length": 2020,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMEL",
"gene_hgnc_id": 10880,
"hgvs_c": "c.1207A>G",
"hgvs_p": "p.Ile403Val",
"transcript": "NM_001200053.1",
"protein_id": "NP_001186982.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 575,
"cds_start": 1207,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 1258,
"cdna_end": null,
"cdna_length": 1888,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMEL",
"gene_hgnc_id": 10880,
"hgvs_c": "c.1207A>G",
"hgvs_p": "p.Ile403Val",
"transcript": "ENST00000550464.5",
"protein_id": "ENSP00000450036.1",
"transcript_support_level": 2,
"aa_start": 403,
"aa_end": null,
"aa_length": 575,
"cds_start": 1207,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 1238,
"cdna_end": null,
"cdna_length": 1867,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMEL",
"gene_hgnc_id": 10880,
"hgvs_c": "c.1000A>G",
"hgvs_p": "p.Ile334Val",
"transcript": "ENST00000549404.5",
"protein_id": "ENSP00000449520.1",
"transcript_support_level": 5,
"aa_start": 334,
"aa_end": null,
"aa_length": 450,
"cds_start": 1000,
"cds_end": null,
"cds_length": 1354,
"cdna_start": 1001,
"cdna_end": null,
"cdna_length": 1355,
"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": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PMEL",
"gene_hgnc_id": 10880,
"hgvs_c": "c.359-246A>G",
"hgvs_p": null,
"transcript": "ENST00000550447.5",
"protein_id": "ENSP00000448029.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 290,
"cds_start": -4,
"cds_end": null,
"cds_length": 873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 901,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PMEL",
"gene_hgnc_id": 10880,
"hgvs_c": "n.236-561A>G",
"hgvs_p": null,
"transcript": "ENST00000549564.1",
"protein_id": null,
"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": 503,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMEL",
"gene_hgnc_id": 10880,
"hgvs_c": "c.*4A>G",
"hgvs_p": null,
"transcript": "ENST00000548803.5",
"protein_id": "ENSP00000447732.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 295,
"cds_start": -4,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 895,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PMEL",
"gene_hgnc_id": 10880,
"dbsnp": "rs772227141",
"frequency_reference_population": 0.0000043527302,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000412083,
"gnomad_genomes_af": 0.00000657168,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.29381024837493896,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.108,
"revel_prediction": "Benign",
"alphamissense_score": 0.1364,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.49,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.434,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000548747.6",
"gene_symbol": "PMEL",
"hgnc_id": 10880,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1465A>G",
"hgvs_p": "p.Ile489Val"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}