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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: 8-127738294-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=127738294&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 127738294,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000621592.8",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"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.77A>G",
"hgvs_p": "p.Asn26Ser",
"transcript": "NM_002467.6",
"protein_id": "NP_002458.2",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 454,
"cds_start": 77,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 440,
"cdna_end": null,
"cdna_length": 3721,
"mane_select": "ENST00000621592.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"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.77A>G",
"hgvs_p": "p.Asn26Ser",
"transcript": "ENST00000621592.8",
"protein_id": "ENSP00000478887.2",
"transcript_support_level": 1,
"aa_start": 26,
"aa_end": null,
"aa_length": 454,
"cds_start": 77,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 440,
"cdna_end": null,
"cdna_length": 3721,
"mane_select": "NM_002467.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"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.74A>G",
"hgvs_p": "p.Asn25Ser",
"transcript": "ENST00000524013.2",
"protein_id": "ENSP00000430235.2",
"transcript_support_level": 1,
"aa_start": 25,
"aa_end": null,
"aa_length": 453,
"cds_start": 74,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 448,
"cdna_end": null,
"cdna_length": 2150,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"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.32A>G",
"hgvs_p": "p.Asn11Ser",
"transcript": "ENST00000377970.6",
"protein_id": "ENSP00000367207.3",
"transcript_support_level": 1,
"aa_start": 11,
"aa_end": null,
"aa_length": 439,
"cds_start": 32,
"cds_end": null,
"cds_length": 1320,
"cdna_start": 587,
"cdna_end": null,
"cdna_length": 2351,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"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.32A>G",
"hgvs_p": "p.Asn11Ser",
"transcript": "ENST00000259523.10",
"protein_id": "ENSP00000259523.6",
"transcript_support_level": 1,
"aa_start": 11,
"aa_end": null,
"aa_length": 257,
"cds_start": 32,
"cds_end": null,
"cds_length": 774,
"cdna_start": 1237,
"cdna_end": null,
"cdna_length": 2042,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"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.74A>G",
"hgvs_p": "p.Asn25Ser",
"transcript": "ENST00000517291.2",
"protein_id": "ENSP00000429441.2",
"transcript_support_level": 1,
"aa_start": 25,
"aa_end": null,
"aa_length": 183,
"cds_start": 74,
"cds_end": null,
"cds_length": 552,
"cdna_start": 545,
"cdna_end": null,
"cdna_length": 1023,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"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.74A>G",
"hgvs_p": "p.Asn25Ser",
"transcript": "NM_001354870.1",
"protein_id": "NP_001341799.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 453,
"cds_start": 74,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 1234,
"cdna_end": null,
"cdna_length": 4515,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"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.32A>G",
"hgvs_p": "p.Asn11Ser",
"transcript": "ENST00000652288.1",
"protein_id": "ENSP00000499105.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 439,
"cds_start": 32,
"cds_end": null,
"cds_length": 1320,
"cdna_start": 113,
"cdna_end": null,
"cdna_length": 1877,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"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.32A>G",
"hgvs_p": "p.Asn11Ser",
"transcript": "ENST00000707113.1",
"protein_id": "ENSP00000516742.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 439,
"cds_start": 32,
"cds_end": null,
"cds_length": 1320,
"cdna_start": 288,
"cdna_end": null,
"cdna_length": 2052,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"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.32A>G",
"hgvs_p": "p.Asn11Ser",
"transcript": "ENST00000707114.1",
"protein_id": "ENSP00000516743.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 439,
"cds_start": 32,
"cds_end": null,
"cds_length": 1320,
"cdna_start": 363,
"cdna_end": null,
"cdna_length": 2127,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"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.32A>G",
"hgvs_p": "p.Asn11Ser",
"transcript": "ENST00000707115.1",
"protein_id": "ENSP00000516744.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 439,
"cds_start": 32,
"cds_end": null,
"cds_length": 1320,
"cdna_start": 558,
"cdna_end": null,
"cdna_length": 2322,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"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.32A>G",
"hgvs_p": "p.Asn11Ser",
"transcript": "ENST00000707116.1",
"protein_id": "ENSP00000516745.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 439,
"cds_start": 32,
"cds_end": null,
"cds_length": 1320,
"cdna_start": 156,
"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": [
"splice_region_variant",
"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.396A>G",
"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": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASC11",
"gene_hgnc_id": 48939,
"hgvs_c": "n.90T>C",
"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": 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.-269A>G",
"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+500T>C",
"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+560T>C",
"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+500T>C",
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASC11",
"gene_hgnc_id": 48939,
"hgvs_c": "n.-17T>C",
"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": "rs4645959",
"frequency_reference_population": 0.03191164,
"hom_count_reference_population": 1012,
"allele_count_reference_population": 51384,
"gnomad_exomes_af": 0.032743,
"gnomad_genomes_af": 0.0239534,
"gnomad_exomes_ac": 47736,
"gnomad_genomes_ac": 3648,
"gnomad_exomes_homalt": 940,
"gnomad_genomes_homalt": 72,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.00826290249824524,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.232,
"revel_prediction": "Benign",
"alphamissense_score": 0.0928,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.6,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.192,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "PP2,BP4_Strong,BS1_Supporting,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 9,
"pathogenic_score": 1,
"criteria": [
"PP2",
"BP4_Strong",
"BS1_Supporting",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000621592.8",
"gene_symbol": "MYC",
"hgnc_id": 7553,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.77A>G",
"hgvs_p": "p.Asn26Ser"
},
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS1_Supporting",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000774798.1",
"gene_symbol": "CASC11",
"hgnc_id": 48939,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.90T>C",
"hgvs_p": null
}
],
"clinvar_disease": "Classic Hodgkin lymphoma,MYC-related disorder,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Classic Hodgkin lymphoma|MYC-related disorder|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}