← Back to variant description
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: 9-136405152-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=136405152&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 136405152,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001039707.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTR1",
"gene_hgnc_id": 10667,
"hgvs_c": "c.944G>T",
"hgvs_p": "p.Ser315Ile",
"transcript": "NM_001039707.2",
"protein_id": "NP_001034796.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 435,
"cds_start": 944,
"cds_end": null,
"cds_length": 1308,
"cdna_start": 1161,
"cdna_end": null,
"cdna_length": 2391,
"mane_select": "ENST00000357365.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTR1",
"gene_hgnc_id": 10667,
"hgvs_c": "c.944G>T",
"hgvs_p": "p.Ser315Ile",
"transcript": "ENST00000357365.8",
"protein_id": "ENSP00000349929.3",
"transcript_support_level": 5,
"aa_start": 315,
"aa_end": null,
"aa_length": 435,
"cds_start": 944,
"cds_end": null,
"cds_length": 1308,
"cdna_start": 1161,
"cdna_end": null,
"cdna_length": 2391,
"mane_select": "NM_001039707.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTR1",
"gene_hgnc_id": 10667,
"hgvs_c": "c.875G>T",
"hgvs_p": "p.Ser292Ile",
"transcript": "ENST00000298537.11",
"protein_id": "ENSP00000298537.7",
"transcript_support_level": 1,
"aa_start": 292,
"aa_end": null,
"aa_length": 412,
"cds_start": 875,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 1087,
"cdna_end": null,
"cdna_length": 2314,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTR1",
"gene_hgnc_id": 10667,
"hgvs_c": "c.875G>T",
"hgvs_p": "p.Ser292Ile",
"transcript": "NM_006643.4",
"protein_id": "NP_006634.3",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 412,
"cds_start": 875,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 1092,
"cdna_end": null,
"cdna_length": 2322,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"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": "ENTR1",
"gene_hgnc_id": 10667,
"hgvs_c": "c.725G>T",
"hgvs_p": "p.Ser242Ile",
"transcript": "NM_001039708.2",
"protein_id": "NP_001034797.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 362,
"cds_start": 725,
"cds_end": null,
"cds_length": 1089,
"cdna_start": 942,
"cdna_end": null,
"cdna_length": 2172,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"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": "ENTR1",
"gene_hgnc_id": 10667,
"hgvs_c": "c.725G>T",
"hgvs_p": "p.Ser242Ile",
"transcript": "ENST00000371725.7",
"protein_id": "ENSP00000360790.3",
"transcript_support_level": 5,
"aa_start": 242,
"aa_end": null,
"aa_length": 362,
"cds_start": 725,
"cds_end": null,
"cds_length": 1089,
"cdna_start": 928,
"cdna_end": null,
"cdna_length": 2129,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTR1",
"gene_hgnc_id": 10667,
"hgvs_c": "c.164G>T",
"hgvs_p": "p.Ser55Ile",
"transcript": "ENST00000417512.1",
"protein_id": "ENSP00000409255.1",
"transcript_support_level": 2,
"aa_start": 55,
"aa_end": null,
"aa_length": 166,
"cds_start": 164,
"cds_end": null,
"cds_length": 501,
"cdna_start": 166,
"cdna_end": null,
"cdna_length": 626,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTR1",
"gene_hgnc_id": 10667,
"hgvs_c": "c.1091G>T",
"hgvs_p": "p.Ser364Ile",
"transcript": "XM_017014218.3",
"protein_id": "XP_016869707.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 484,
"cds_start": 1091,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 1308,
"cdna_end": null,
"cdna_length": 2538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTR1",
"gene_hgnc_id": 10667,
"hgvs_c": "c.944G>T",
"hgvs_p": "p.Ser315Ile",
"transcript": "XM_005266050.5",
"protein_id": "XP_005266107.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 426,
"cds_start": 944,
"cds_end": null,
"cds_length": 1281,
"cdna_start": 1161,
"cdna_end": null,
"cdna_length": 2364,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTR1",
"gene_hgnc_id": 10667,
"hgvs_c": "c.875G>T",
"hgvs_p": "p.Ser292Ile",
"transcript": "XM_047422655.1",
"protein_id": "XP_047278611.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 403,
"cds_start": 875,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 1092,
"cdna_end": null,
"cdna_length": 2295,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTR1",
"gene_hgnc_id": 10667,
"hgvs_c": "c.845G>T",
"hgvs_p": "p.Ser282Ile",
"transcript": "XM_011518157.3",
"protein_id": "XP_011516459.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 402,
"cds_start": 845,
"cds_end": null,
"cds_length": 1209,
"cdna_start": 931,
"cdna_end": null,
"cdna_length": 2161,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTR1",
"gene_hgnc_id": 10667,
"hgvs_c": "c.794G>T",
"hgvs_p": "p.Ser265Ile",
"transcript": "XM_005266051.4",
"protein_id": "XP_005266108.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 385,
"cds_start": 794,
"cds_end": null,
"cds_length": 1158,
"cdna_start": 1011,
"cdna_end": null,
"cdna_length": 2241,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTR1",
"gene_hgnc_id": 10667,
"hgvs_c": "c.794G>T",
"hgvs_p": "p.Ser265Ile",
"transcript": "XM_047422656.1",
"protein_id": "XP_047278612.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 376,
"cds_start": 794,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 1011,
"cdna_end": null,
"cdna_length": 2214,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"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": "ENTR1",
"gene_hgnc_id": 10667,
"hgvs_c": "c.725G>T",
"hgvs_p": "p.Ser242Ile",
"transcript": "XM_047422657.1",
"protein_id": "XP_047278613.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 353,
"cds_start": 725,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 942,
"cdna_end": null,
"cdna_length": 2145,
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTR1",
"gene_hgnc_id": 10667,
"hgvs_c": "n.197G>T",
"hgvs_p": null,
"transcript": "ENST00000461693.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 869,
"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": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTR1",
"gene_hgnc_id": 10667,
"hgvs_c": "n.388G>T",
"hgvs_p": null,
"transcript": "ENST00000486441.1",
"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": 570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ENTR1",
"gene_hgnc_id": 10667,
"dbsnp": "rs893444250",
"frequency_reference_population": 6.841471e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84147e-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": 0.5209082365036011,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.153,
"revel_prediction": "Benign",
"alphamissense_score": 0.1977,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.22,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.803,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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_001039707.2",
"gene_symbol": "ENTR1",
"hgnc_id": 10667,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.944G>T",
"hgvs_p": "p.Ser315Ile"
}
],
"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
}