← 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: 9-137449472-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=137449472&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 137449472,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000371475.9",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMF",
"gene_hgnc_id": 29843,
"hgvs_c": "c.1515G>T",
"hgvs_p": "p.Thr505Thr",
"transcript": "NM_001130969.3",
"protein_id": "NP_001124441.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 530,
"cds_start": 1515,
"cds_end": null,
"cds_length": 1593,
"cdna_start": 1747,
"cdna_end": null,
"cdna_length": 3649,
"mane_select": "ENST00000371475.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMF",
"gene_hgnc_id": 29843,
"hgvs_c": "c.1515G>T",
"hgvs_p": "p.Thr505Thr",
"transcript": "ENST00000371475.9",
"protein_id": "ENSP00000360530.3",
"transcript_support_level": 1,
"aa_start": 505,
"aa_end": null,
"aa_length": 530,
"cds_start": 1515,
"cds_end": null,
"cds_length": 1593,
"cdna_start": 1747,
"cdna_end": null,
"cdna_length": 3649,
"mane_select": "NM_001130969.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMF",
"gene_hgnc_id": 29843,
"hgvs_c": "c.1509G>T",
"hgvs_p": "p.Thr503Thr",
"transcript": "ENST00000265663.12",
"protein_id": "ENSP00000265663.7",
"transcript_support_level": 1,
"aa_start": 503,
"aa_end": null,
"aa_length": 528,
"cds_start": 1509,
"cds_end": null,
"cds_length": 1587,
"cdna_start": 1741,
"cdna_end": null,
"cdna_length": 2981,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMF",
"gene_hgnc_id": 29843,
"hgvs_c": "c.1509G>T",
"hgvs_p": "p.Thr503Thr",
"transcript": "ENST00000371472.6",
"protein_id": "ENSP00000360527.1",
"transcript_support_level": 2,
"aa_start": 503,
"aa_end": null,
"aa_length": 528,
"cds_start": 1509,
"cds_end": null,
"cds_length": 1587,
"cdna_start": 1709,
"cdna_end": null,
"cdna_length": 1852,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMF",
"gene_hgnc_id": 29843,
"hgvs_c": "c.1440G>T",
"hgvs_p": "p.Thr480Thr",
"transcript": "ENST00000371474.7",
"protein_id": "ENSP00000360529.3",
"transcript_support_level": 1,
"aa_start": 480,
"aa_end": null,
"aa_length": 505,
"cds_start": 1440,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1672,
"cdna_end": null,
"cdna_length": 3571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMF",
"gene_hgnc_id": 29843,
"hgvs_c": "c.1425G>T",
"hgvs_p": "p.Thr475Thr",
"transcript": "ENST00000371473.7",
"protein_id": "ENSP00000360528.3",
"transcript_support_level": 1,
"aa_start": 475,
"aa_end": null,
"aa_length": 500,
"cds_start": 1425,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 1657,
"cdna_end": null,
"cdna_length": 3556,
"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": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMF",
"gene_hgnc_id": 29843,
"hgvs_c": "n.1641G>T",
"hgvs_p": null,
"transcript": "ENST00000371482.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 2888,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMF",
"gene_hgnc_id": 29843,
"hgvs_c": "c.1509G>T",
"hgvs_p": "p.Thr503Thr",
"transcript": "NM_015537.5",
"protein_id": "NP_056352.3",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 528,
"cds_start": 1509,
"cds_end": null,
"cds_length": 1587,
"cdna_start": 1741,
"cdna_end": null,
"cdna_length": 3643,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMF",
"gene_hgnc_id": 29843,
"hgvs_c": "c.1446G>T",
"hgvs_p": "p.Thr482Thr",
"transcript": "NM_001130970.2",
"protein_id": "NP_001124442.1",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 507,
"cds_start": 1446,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 1678,
"cdna_end": null,
"cdna_length": 3580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMF",
"gene_hgnc_id": 29843,
"hgvs_c": "c.1446G>T",
"hgvs_p": "p.Thr482Thr",
"transcript": "ENST00000437259.5",
"protein_id": "ENSP00000412007.1",
"transcript_support_level": 5,
"aa_start": 482,
"aa_end": null,
"aa_length": 507,
"cds_start": 1446,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 1678,
"cdna_end": null,
"cdna_length": 3577,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMF",
"gene_hgnc_id": 29843,
"hgvs_c": "c.1440G>T",
"hgvs_p": "p.Thr480Thr",
"transcript": "NM_001130971.2",
"protein_id": "NP_001124443.1",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 505,
"cds_start": 1440,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1672,
"cdna_end": null,
"cdna_length": 3574,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMF",
"gene_hgnc_id": 29843,
"hgvs_c": "c.1425G>T",
"hgvs_p": "p.Thr475Thr",
"transcript": "NM_001178064.2",
"protein_id": "NP_001171535.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 500,
"cds_start": 1425,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 1657,
"cdna_end": null,
"cdna_length": 3559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMF",
"gene_hgnc_id": 29843,
"hgvs_c": "c.1419G>T",
"hgvs_p": "p.Thr473Thr",
"transcript": "XM_005266061.6",
"protein_id": "XP_005266118.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 498,
"cds_start": 1419,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 1651,
"cdna_end": null,
"cdna_length": 3553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMF",
"gene_hgnc_id": 29843,
"hgvs_c": "c.1356G>T",
"hgvs_p": "p.Thr452Thr",
"transcript": "XM_011518496.4",
"protein_id": "XP_011516798.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 477,
"cds_start": 1356,
"cds_end": null,
"cds_length": 1434,
"cdna_start": 1588,
"cdna_end": null,
"cdna_length": 3490,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMF",
"gene_hgnc_id": 29843,
"hgvs_c": "c.1350G>T",
"hgvs_p": "p.Thr450Thr",
"transcript": "XM_005266062.6",
"protein_id": "XP_005266119.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 475,
"cds_start": 1350,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 1582,
"cdna_end": null,
"cdna_length": 3484,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMF",
"gene_hgnc_id": 29843,
"hgvs_c": "c.1077G>T",
"hgvs_p": "p.Thr359Thr",
"transcript": "XM_011518497.3",
"protein_id": "XP_011516799.2",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 384,
"cds_start": 1077,
"cds_end": null,
"cds_length": 1155,
"cdna_start": 1220,
"cdna_end": null,
"cdna_length": 3122,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMF",
"gene_hgnc_id": 29843,
"hgvs_c": "c.987G>T",
"hgvs_p": "p.Thr329Thr",
"transcript": "XM_017014597.3",
"protein_id": "XP_016870086.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 354,
"cds_start": 987,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 1129,
"cdna_end": null,
"cdna_length": 3031,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMF",
"gene_hgnc_id": 29843,
"hgvs_c": "n.*135G>T",
"hgvs_p": null,
"transcript": "ENST00000484316.5",
"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": 933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NSMF",
"gene_hgnc_id": 29843,
"dbsnp": "rs778638506",
"frequency_reference_population": 6.8467455e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84675e-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": -0.38999998569488525,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.1899999976158142,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.97,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.19,
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP7",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 3,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000371475.9",
"gene_symbol": "NSMF",
"hgnc_id": 29843,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1515G>T",
"hgvs_p": "p.Thr505Thr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}