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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: 14-30911140-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=30911140&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 30911140,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001083893.2",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRN3",
"gene_hgnc_id": 15720,
"hgvs_c": "c.1621A>G",
"hgvs_p": "p.Ile541Val",
"transcript": "NM_001083893.2",
"protein_id": "NP_001077362.1",
"transcript_support_level": null,
"aa_start": 541,
"aa_end": null,
"aa_length": 797,
"cds_start": 1621,
"cds_end": null,
"cds_length": 2394,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000357479.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001083893.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRN3",
"gene_hgnc_id": 15720,
"hgvs_c": "c.1621A>G",
"hgvs_p": "p.Ile541Val",
"transcript": "ENST00000357479.10",
"protein_id": "ENSP00000350071.5",
"transcript_support_level": 5,
"aa_start": 541,
"aa_end": null,
"aa_length": 797,
"cds_start": 1621,
"cds_end": null,
"cds_length": 2394,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001083893.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357479.10"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRN3",
"gene_hgnc_id": 15720,
"hgvs_c": "c.1369A>G",
"hgvs_p": "p.Ile457Val",
"transcript": "ENST00000355683.9",
"protein_id": "ENSP00000347909.5",
"transcript_support_level": 1,
"aa_start": 457,
"aa_end": null,
"aa_length": 713,
"cds_start": 1369,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355683.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRN3",
"gene_hgnc_id": 15720,
"hgvs_c": "n.*236A>G",
"hgvs_p": null,
"transcript": "ENST00000555358.5",
"protein_id": "ENSP00000451028.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000555358.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRN3",
"gene_hgnc_id": 15720,
"hgvs_c": "n.*236A>G",
"hgvs_p": null,
"transcript": "ENST00000555358.5",
"protein_id": "ENSP00000451028.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000555358.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRN3",
"gene_hgnc_id": 15720,
"hgvs_c": "c.1618A>G",
"hgvs_p": "p.Ile540Val",
"transcript": "ENST00000964547.1",
"protein_id": "ENSP00000634606.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 796,
"cds_start": 1618,
"cds_end": null,
"cds_length": 2391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964547.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRN3",
"gene_hgnc_id": 15720,
"hgvs_c": "c.1369A>G",
"hgvs_p": "p.Ile457Val",
"transcript": "ENST00000964548.1",
"protein_id": "ENSP00000634607.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 722,
"cds_start": 1369,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964548.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRN3",
"gene_hgnc_id": 15720,
"hgvs_c": "c.1369A>G",
"hgvs_p": "p.Ile457Val",
"transcript": "NM_014574.4",
"protein_id": "NP_055389.3",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 713,
"cds_start": 1369,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014574.4"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRN3",
"gene_hgnc_id": 15720,
"hgvs_c": "c.1366A>G",
"hgvs_p": "p.Ile456Val",
"transcript": "ENST00000937939.1",
"protein_id": "ENSP00000607998.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 712,
"cds_start": 1366,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937939.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRN3",
"gene_hgnc_id": 15720,
"hgvs_c": "c.1369A>G",
"hgvs_p": "p.Ile457Val",
"transcript": "ENST00000964550.1",
"protein_id": "ENSP00000634609.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 681,
"cds_start": 1369,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964550.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRN3",
"gene_hgnc_id": 15720,
"hgvs_c": "c.1369A>G",
"hgvs_p": "p.Ile457Val",
"transcript": "ENST00000964549.1",
"protein_id": "ENSP00000634608.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 680,
"cds_start": 1369,
"cds_end": null,
"cds_length": 2043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964549.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRN3",
"gene_hgnc_id": 15720,
"hgvs_c": "c.1369A>G",
"hgvs_p": "p.Ile457Val",
"transcript": "ENST00000964546.1",
"protein_id": "ENSP00000634605.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 666,
"cds_start": 1369,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964546.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRN3",
"gene_hgnc_id": 15720,
"hgvs_c": "c.1369A>G",
"hgvs_p": "p.Ile457Val",
"transcript": "ENST00000964551.1",
"protein_id": "ENSP00000634610.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 610,
"cds_start": 1369,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964551.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRN3",
"gene_hgnc_id": 15720,
"hgvs_c": "c.1693A>G",
"hgvs_p": "p.Ile565Val",
"transcript": "XM_047431321.1",
"protein_id": "XP_047287277.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 821,
"cds_start": 1693,
"cds_end": null,
"cds_length": 2466,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431321.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRN3",
"gene_hgnc_id": 15720,
"hgvs_c": "c.1510A>G",
"hgvs_p": "p.Ile504Val",
"transcript": "XM_005267569.5",
"protein_id": "XP_005267626.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 760,
"cds_start": 1510,
"cds_end": null,
"cds_length": 2283,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005267569.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRN3",
"gene_hgnc_id": 15720,
"hgvs_c": "c.1480A>G",
"hgvs_p": "p.Ile494Val",
"transcript": "XM_005267570.5",
"protein_id": "XP_005267627.1",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 750,
"cds_start": 1480,
"cds_end": null,
"cds_length": 2253,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005267570.5"
},
{
"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": "STRN3",
"gene_hgnc_id": 15720,
"hgvs_c": "n.376A>G",
"hgvs_p": null,
"transcript": "ENST00000554124.2",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000554124.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000295665",
"gene_hgnc_id": null,
"hgvs_c": "n.80+13170T>C",
"hgvs_p": null,
"transcript": "ENST00000731663.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000731663.1"
}
],
"gene_symbol": "STRN3",
"gene_hgnc_id": 15720,
"dbsnp": "rs1372395277",
"frequency_reference_population": 0.0000037179143,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000273666,
"gnomad_genomes_af": 0.000013143,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.19874894618988037,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.067,
"revel_prediction": "Benign",
"alphamissense_score": 0.0576,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.64,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001083893.2",
"gene_symbol": "STRN3",
"hgnc_id": 15720,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1621A>G",
"hgvs_p": "p.Ile541Val"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000731663.1",
"gene_symbol": "ENSG00000295665",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.80+13170T>C",
"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
}