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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: 8-127738393-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=127738393&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 127738393,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000621592.8",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYC",
"gene_hgnc_id": 7553,
"hgvs_c": "c.176C>A",
"hgvs_p": "p.Ala59Glu",
"transcript": "NM_002467.6",
"protein_id": "NP_002458.2",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 454,
"cds_start": 176,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 539,
"cdna_end": null,
"cdna_length": 3721,
"mane_select": "ENST00000621592.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYC",
"gene_hgnc_id": 7553,
"hgvs_c": "c.176C>A",
"hgvs_p": "p.Ala59Glu",
"transcript": "ENST00000621592.8",
"protein_id": "ENSP00000478887.2",
"transcript_support_level": 1,
"aa_start": 59,
"aa_end": null,
"aa_length": 454,
"cds_start": 176,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 539,
"cdna_end": null,
"cdna_length": 3721,
"mane_select": "NM_002467.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYC",
"gene_hgnc_id": 7553,
"hgvs_c": "c.173C>A",
"hgvs_p": "p.Ala58Glu",
"transcript": "ENST00000524013.2",
"protein_id": "ENSP00000430235.2",
"transcript_support_level": 1,
"aa_start": 58,
"aa_end": null,
"aa_length": 453,
"cds_start": 173,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 547,
"cdna_end": null,
"cdna_length": 2150,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYC",
"gene_hgnc_id": 7553,
"hgvs_c": "c.131C>A",
"hgvs_p": "p.Ala44Glu",
"transcript": "ENST00000377970.6",
"protein_id": "ENSP00000367207.3",
"transcript_support_level": 1,
"aa_start": 44,
"aa_end": null,
"aa_length": 439,
"cds_start": 131,
"cds_end": null,
"cds_length": 1320,
"cdna_start": 686,
"cdna_end": null,
"cdna_length": 2351,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYC",
"gene_hgnc_id": 7553,
"hgvs_c": "c.131C>A",
"hgvs_p": "p.Ala44Glu",
"transcript": "ENST00000259523.10",
"protein_id": "ENSP00000259523.6",
"transcript_support_level": 1,
"aa_start": 44,
"aa_end": null,
"aa_length": 257,
"cds_start": 131,
"cds_end": null,
"cds_length": 774,
"cdna_start": 1336,
"cdna_end": null,
"cdna_length": 2042,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYC",
"gene_hgnc_id": 7553,
"hgvs_c": "c.173C>A",
"hgvs_p": "p.Ala58Glu",
"transcript": "ENST00000517291.2",
"protein_id": "ENSP00000429441.2",
"transcript_support_level": 1,
"aa_start": 58,
"aa_end": null,
"aa_length": 183,
"cds_start": 173,
"cds_end": null,
"cds_length": 552,
"cdna_start": 644,
"cdna_end": null,
"cdna_length": 1023,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYC",
"gene_hgnc_id": 7553,
"hgvs_c": "c.173C>A",
"hgvs_p": "p.Ala58Glu",
"transcript": "NM_001354870.1",
"protein_id": "NP_001341799.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 453,
"cds_start": 173,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 1333,
"cdna_end": null,
"cdna_length": 4515,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYC",
"gene_hgnc_id": 7553,
"hgvs_c": "c.131C>A",
"hgvs_p": "p.Ala44Glu",
"transcript": "ENST00000652288.1",
"protein_id": "ENSP00000499105.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 439,
"cds_start": 131,
"cds_end": null,
"cds_length": 1320,
"cdna_start": 212,
"cdna_end": null,
"cdna_length": 1877,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYC",
"gene_hgnc_id": 7553,
"hgvs_c": "c.131C>A",
"hgvs_p": "p.Ala44Glu",
"transcript": "ENST00000707113.1",
"protein_id": "ENSP00000516742.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 439,
"cds_start": 131,
"cds_end": null,
"cds_length": 1320,
"cdna_start": 387,
"cdna_end": null,
"cdna_length": 2052,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYC",
"gene_hgnc_id": 7553,
"hgvs_c": "c.131C>A",
"hgvs_p": "p.Ala44Glu",
"transcript": "ENST00000707114.1",
"protein_id": "ENSP00000516743.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 439,
"cds_start": 131,
"cds_end": null,
"cds_length": 1320,
"cdna_start": 462,
"cdna_end": null,
"cdna_length": 2127,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYC",
"gene_hgnc_id": 7553,
"hgvs_c": "c.131C>A",
"hgvs_p": "p.Ala44Glu",
"transcript": "ENST00000707115.1",
"protein_id": "ENSP00000516744.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 439,
"cds_start": 131,
"cds_end": null,
"cds_length": 1320,
"cdna_start": 657,
"cdna_end": null,
"cdna_length": 2322,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYC",
"gene_hgnc_id": 7553,
"hgvs_c": "c.131C>A",
"hgvs_p": "p.Ala44Glu",
"transcript": "ENST00000707116.1",
"protein_id": "ENSP00000516745.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 439,
"cds_start": 131,
"cds_end": null,
"cds_length": 1320,
"cdna_start": 255,
"cdna_end": null,
"cdna_length": 1920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYC",
"gene_hgnc_id": 7553,
"hgvs_c": "n.495C>A",
"hgvs_p": null,
"transcript": "ENST00000520751.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 577,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYC",
"gene_hgnc_id": 7553,
"hgvs_c": "c.-170C>A",
"hgvs_p": null,
"transcript": "ENST00000651626.1",
"protein_id": "ENSP00000499182.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 339,
"cds_start": -4,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1957,
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CASC11",
"gene_hgnc_id": 48939,
"hgvs_c": "n.229+401G>T",
"hgvs_p": null,
"transcript": "ENST00000672942.2",
"protein_id": null,
"transcript_support_level": null,
"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": 1130,
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CASC11",
"gene_hgnc_id": 48939,
"hgvs_c": "n.167+461G>T",
"hgvs_p": null,
"transcript": "ENST00000774797.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1068,
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CASC11",
"gene_hgnc_id": 48939,
"hgvs_c": "n.216+401G>T",
"hgvs_p": null,
"transcript": "ENST00000774804.1",
"protein_id": null,
"transcript_support_level": null,
"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": 399,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASC11",
"gene_hgnc_id": 48939,
"hgvs_c": "n.-10G>T",
"hgvs_p": null,
"transcript": "ENST00000774798.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1383,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASC11",
"gene_hgnc_id": 48939,
"hgvs_c": "n.-116G>T",
"hgvs_p": null,
"transcript": "ENST00000774807.1",
"protein_id": null,
"transcript_support_level": null,
"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": 559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MYC",
"gene_hgnc_id": 7553,
"dbsnp": "rs775522201",
"frequency_reference_population": 6.841368e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84137e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6352711319923401,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.504,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9572,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.15,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.12,
"phylop100way_prediction": "Uncertain_significance",
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP2",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000621592.8",
"gene_symbol": "MYC",
"hgnc_id": 7553,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.176C>A",
"hgvs_p": "p.Ala59Glu"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000672942.2",
"gene_symbol": "CASC11",
"hgnc_id": 48939,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.229+401G>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
}