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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: 10-116881577-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=116881577&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 116881577,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001242699.2",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENO4",
"gene_hgnc_id": 31670,
"hgvs_c": "c.1786C>T",
"hgvs_p": "p.Leu596Phe",
"transcript": "NM_001242699.2",
"protein_id": "NP_001229628.1",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 625,
"cds_start": 1786,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000341276.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242699.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENO4",
"gene_hgnc_id": 31670,
"hgvs_c": "c.1786C>T",
"hgvs_p": "p.Leu596Phe",
"transcript": "ENST00000341276.11",
"protein_id": "ENSP00000345555.6",
"transcript_support_level": 5,
"aa_start": 596,
"aa_end": null,
"aa_length": 625,
"cds_start": 1786,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001242699.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000341276.11"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENO4",
"gene_hgnc_id": 31670,
"hgvs_c": "c.835C>T",
"hgvs_p": "p.Leu279Phe",
"transcript": "ENST00000409522.5",
"protein_id": "ENSP00000387194.1",
"transcript_support_level": 1,
"aa_start": 279,
"aa_end": null,
"aa_length": 308,
"cds_start": 835,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409522.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHTN1",
"gene_hgnc_id": 29319,
"hgvs_c": "c.*4767G>A",
"hgvs_p": null,
"transcript": "NM_001127211.3",
"protein_id": "NP_001120683.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 631,
"cds_start": null,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000355371.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127211.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHTN1",
"gene_hgnc_id": 29319,
"hgvs_c": "c.*4767G>A",
"hgvs_p": null,
"transcript": "ENST00000355371.9",
"protein_id": "ENSP00000347532.4",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 631,
"cds_start": null,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001127211.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355371.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHTN1",
"gene_hgnc_id": 29319,
"hgvs_c": "c.*4978G>A",
"hgvs_p": null,
"transcript": "ENST00000615301.4",
"protein_id": "ENSP00000480109.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 456,
"cds_start": null,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000615301.4"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENO4",
"gene_hgnc_id": 31670,
"hgvs_c": "c.1531C>T",
"hgvs_p": "p.Leu511Phe",
"transcript": "ENST00000969696.1",
"protein_id": "ENSP00000639755.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 540,
"cds_start": 1531,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969696.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENO4",
"gene_hgnc_id": 31670,
"hgvs_c": "c.961C>T",
"hgvs_p": "p.Leu321Phe",
"transcript": "ENST00000969697.1",
"protein_id": "ENSP00000639756.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 350,
"cds_start": 961,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969697.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENO4",
"gene_hgnc_id": 31670,
"hgvs_c": "c.1660C>T",
"hgvs_p": "p.Leu554Phe",
"transcript": "XM_011539797.4",
"protein_id": "XP_011538099.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 583,
"cds_start": 1660,
"cds_end": null,
"cds_length": 1752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011539797.4"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENO4",
"gene_hgnc_id": 31670,
"hgvs_c": "c.1657C>T",
"hgvs_p": "p.Leu553Phe",
"transcript": "XM_047425228.1",
"protein_id": "XP_047281184.1",
"transcript_support_level": null,
"aa_start": 553,
"aa_end": null,
"aa_length": 582,
"cds_start": 1657,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425228.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHTN1",
"gene_hgnc_id": 29319,
"hgvs_c": "c.*4767G>A",
"hgvs_p": null,
"transcript": "NM_001258298.2",
"protein_id": "NP_001245227.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 571,
"cds_start": null,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001258298.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHTN1",
"gene_hgnc_id": 29319,
"hgvs_c": "c.*4978G>A",
"hgvs_p": null,
"transcript": "NM_018330.7",
"protein_id": "NP_060800.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 456,
"cds_start": null,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018330.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ENO4",
"gene_hgnc_id": 31670,
"hgvs_c": "c.1192+1591C>T",
"hgvs_p": null,
"transcript": "ENST00000369207.3",
"protein_id": "ENSP00000358208.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 421,
"cds_start": null,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369207.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "ENO4",
"gene_hgnc_id": 31670,
"hgvs_c": "c.1723+1591C>T",
"hgvs_p": null,
"transcript": "XM_006717835.4",
"protein_id": "XP_006717898.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 598,
"cds_start": null,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006717835.4"
}
],
"gene_symbol": "ENO4",
"gene_hgnc_id": 31670,
"dbsnp": "rs2133286684",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 0,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07523950934410095,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.088,
"revel_prediction": "Benign",
"alphamissense_score": 0.0885,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.52,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.109,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001242699.2",
"gene_symbol": "ENO4",
"hgnc_id": 31670,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1786C>T",
"hgvs_p": "p.Leu596Phe"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001127211.3",
"gene_symbol": "SHTN1",
"hgnc_id": 29319,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.*4767G>A",
"hgvs_p": null
}
],
"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
}