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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: 12-55955561-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=55955561&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 55955561,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001200054.1",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMEL",
"gene_hgnc_id": 10880,
"hgvs_c": "c.1665C>A",
"hgvs_p": "p.His555Gln",
"transcript": "NM_001384361.1",
"protein_id": "NP_001371290.1",
"transcript_support_level": null,
"aa_start": 555,
"aa_end": null,
"aa_length": 661,
"cds_start": 1665,
"cds_end": null,
"cds_length": 1986,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000548747.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384361.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMEL",
"gene_hgnc_id": 10880,
"hgvs_c": "c.1665C>A",
"hgvs_p": "p.His555Gln",
"transcript": "ENST00000548747.6",
"protein_id": "ENSP00000448828.1",
"transcript_support_level": 1,
"aa_start": 555,
"aa_end": null,
"aa_length": 661,
"cds_start": 1665,
"cds_end": null,
"cds_length": 1986,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001384361.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000548747.6"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMEL",
"gene_hgnc_id": 10880,
"hgvs_c": "c.1665C>A",
"hgvs_p": "p.His555Gln",
"transcript": "ENST00000449260.6",
"protein_id": "ENSP00000402758.2",
"transcript_support_level": 1,
"aa_start": 555,
"aa_end": null,
"aa_length": 668,
"cds_start": 1665,
"cds_end": null,
"cds_length": 2007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000449260.6"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMEL",
"gene_hgnc_id": 10880,
"hgvs_c": "c.1665C>A",
"hgvs_p": "p.His555Gln",
"transcript": "NM_001200054.1",
"protein_id": "NP_001186983.1",
"transcript_support_level": null,
"aa_start": 555,
"aa_end": null,
"aa_length": 668,
"cds_start": 1665,
"cds_end": null,
"cds_length": 2007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001200054.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMEL",
"gene_hgnc_id": 10880,
"hgvs_c": "c.1665C>A",
"hgvs_p": "p.His555Gln",
"transcript": "NM_006928.5",
"protein_id": "NP_008859.1",
"transcript_support_level": null,
"aa_start": 555,
"aa_end": null,
"aa_length": 661,
"cds_start": 1665,
"cds_end": null,
"cds_length": 1986,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006928.5"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMEL",
"gene_hgnc_id": 10880,
"hgvs_c": "c.1665C>A",
"hgvs_p": "p.His555Gln",
"transcript": "ENST00000548493.5",
"protein_id": "ENSP00000447374.1",
"transcript_support_level": 2,
"aa_start": 555,
"aa_end": null,
"aa_length": 661,
"cds_start": 1665,
"cds_end": null,
"cds_length": 1986,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000548493.5"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMEL",
"gene_hgnc_id": 10880,
"hgvs_c": "c.1665C>A",
"hgvs_p": "p.His555Gln",
"transcript": "ENST00000552882.5",
"protein_id": "ENSP00000449690.1",
"transcript_support_level": 5,
"aa_start": 555,
"aa_end": null,
"aa_length": 661,
"cds_start": 1665,
"cds_end": null,
"cds_length": 1986,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000552882.5"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMEL",
"gene_hgnc_id": 10880,
"hgvs_c": "c.1539C>A",
"hgvs_p": "p.His513Gln",
"transcript": "NM_001320121.1",
"protein_id": "NP_001307050.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 626,
"cds_start": 1539,
"cds_end": null,
"cds_length": 1881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320121.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMEL",
"gene_hgnc_id": 10880,
"hgvs_c": "c.1554C>A",
"hgvs_p": "p.His518Gln",
"transcript": "ENST00000932783.1",
"protein_id": "ENSP00000602842.1",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 624,
"cds_start": 1554,
"cds_end": null,
"cds_length": 1875,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932783.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMEL",
"gene_hgnc_id": 10880,
"hgvs_c": "c.1539C>A",
"hgvs_p": "p.His513Gln",
"transcript": "NM_001320122.1",
"protein_id": "NP_001307051.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 619,
"cds_start": 1539,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320122.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMEL",
"gene_hgnc_id": 10880,
"hgvs_c": "c.1407C>A",
"hgvs_p": "p.His469Gln",
"transcript": "NM_001200053.1",
"protein_id": "NP_001186982.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 575,
"cds_start": 1407,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001200053.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMEL",
"gene_hgnc_id": 10880,
"hgvs_c": "c.1407C>A",
"hgvs_p": "p.His469Gln",
"transcript": "ENST00000550464.5",
"protein_id": "ENSP00000450036.1",
"transcript_support_level": 2,
"aa_start": 469,
"aa_end": null,
"aa_length": 575,
"cds_start": 1407,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000550464.5"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMEL",
"gene_hgnc_id": 10880,
"hgvs_c": "c.1200C>A",
"hgvs_p": "p.His400Gln",
"transcript": "ENST00000549404.5",
"protein_id": "ENSP00000449520.1",
"transcript_support_level": 5,
"aa_start": 400,
"aa_end": null,
"aa_length": 450,
"cds_start": 1200,
"cds_end": null,
"cds_length": 1354,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000549404.5"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMEL",
"gene_hgnc_id": 10880,
"hgvs_c": "c.669C>A",
"hgvs_p": "p.His223Gln",
"transcript": "ENST00000932786.1",
"protein_id": "ENSP00000602845.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 329,
"cds_start": 669,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932786.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMEL",
"gene_hgnc_id": 10880,
"hgvs_c": "c.645C>A",
"hgvs_p": "p.His215Gln",
"transcript": "ENST00000932784.1",
"protein_id": "ENSP00000602843.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 321,
"cds_start": 645,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932784.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMEL",
"gene_hgnc_id": 10880,
"hgvs_c": "c.552C>A",
"hgvs_p": "p.His184Gln",
"transcript": "ENST00000550447.5",
"protein_id": "ENSP00000448029.1",
"transcript_support_level": 3,
"aa_start": 184,
"aa_end": null,
"aa_length": 290,
"cds_start": 552,
"cds_end": null,
"cds_length": 873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000550447.5"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMEL",
"gene_hgnc_id": 10880,
"hgvs_c": "c.528C>A",
"hgvs_p": "p.His176Gln",
"transcript": "ENST00000932785.1",
"protein_id": "ENSP00000602844.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 282,
"cds_start": 528,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932785.1"
},
{
"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.236-13C>A",
"hgvs_p": null,
"transcript": "ENST00000549564.1",
"protein_id": null,
"transcript_support_level": 5,
"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": "pseudogene",
"feature": "ENST00000549564.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMEL",
"gene_hgnc_id": 10880,
"hgvs_c": "n.*235C>A",
"hgvs_p": null,
"transcript": "ENST00000550762.1",
"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": "ENST00000550762.1"
}
],
"gene_symbol": "PMEL",
"gene_hgnc_id": 10880,
"dbsnp": "rs773615814",
"frequency_reference_population": 0.0000013682062,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136821,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4984653890132904,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.102,
"revel_prediction": "Benign",
"alphamissense_score": 0.1946,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.021,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001200054.1",
"gene_symbol": "PMEL",
"hgnc_id": 10880,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1665C>A",
"hgvs_p": "p.His555Gln"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}