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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: 11-69295926-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=69295926&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 69295926,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_138768.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "A",
"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": "MYEOV",
"gene_hgnc_id": 7563,
"hgvs_c": "c.476T>C",
"hgvs_p": "p.Val159Ala",
"transcript": "NM_001293291.2",
"protein_id": "NP_001280220.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 313,
"cds_start": 476,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000441339.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001293291.2"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": true,
"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": "MYEOV",
"gene_hgnc_id": 7563,
"hgvs_c": "c.476T>C",
"hgvs_p": "p.Val159Ala",
"transcript": "ENST00000441339.3",
"protein_id": "ENSP00000412482.2",
"transcript_support_level": 2,
"aa_start": 159,
"aa_end": null,
"aa_length": 313,
"cds_start": 476,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001293291.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000441339.3"
},
{
"aa_ref": "V",
"aa_alt": "A",
"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": "MYEOV",
"gene_hgnc_id": 7563,
"hgvs_c": "c.476T>C",
"hgvs_p": "p.Val159Ala",
"transcript": "ENST00000308946.3",
"protein_id": "ENSP00000308330.3",
"transcript_support_level": 1,
"aa_start": 159,
"aa_end": null,
"aa_length": 313,
"cds_start": 476,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000308946.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYEOV",
"gene_hgnc_id": 7563,
"hgvs_c": "n.1107T>C",
"hgvs_p": null,
"transcript": "ENST00000535653.1",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000535653.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"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": "MYEOV",
"gene_hgnc_id": 7563,
"hgvs_c": "c.476T>C",
"hgvs_p": "p.Val159Ala",
"transcript": "NM_138768.4",
"protein_id": "NP_620123.2",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 313,
"cds_start": 476,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_138768.4"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYEOV",
"gene_hgnc_id": 7563,
"hgvs_c": "c.476T>C",
"hgvs_p": "p.Val159Ala",
"transcript": "ENST00000953493.1",
"protein_id": "ENSP00000623552.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 313,
"cds_start": 476,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953493.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"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": "MYEOV",
"gene_hgnc_id": 7563,
"hgvs_c": "c.428T>C",
"hgvs_p": "p.Val143Ala",
"transcript": "ENST00000882027.1",
"protein_id": "ENSP00000552086.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 297,
"cds_start": 428,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882027.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"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": "MYEOV",
"gene_hgnc_id": 7563,
"hgvs_c": "c.428T>C",
"hgvs_p": "p.Val143Ala",
"transcript": "ENST00000953492.1",
"protein_id": "ENSP00000623551.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 297,
"cds_start": 428,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953492.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYEOV",
"gene_hgnc_id": 7563,
"hgvs_c": "c.302T>C",
"hgvs_p": "p.Val101Ala",
"transcript": "NM_001293294.2",
"protein_id": "NP_001280223.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 255,
"cds_start": 302,
"cds_end": null,
"cds_length": 768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001293294.2"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYEOV",
"gene_hgnc_id": 7563,
"hgvs_c": "c.302T>C",
"hgvs_p": "p.Val101Ala",
"transcript": "NM_001293296.2",
"protein_id": "NP_001280225.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 255,
"cds_start": 302,
"cds_end": null,
"cds_length": 768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001293296.2"
},
{
"aa_ref": "V",
"aa_alt": "A",
"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": "MYEOV",
"gene_hgnc_id": 7563,
"hgvs_c": "c.302T>C",
"hgvs_p": "p.Val101Ala",
"transcript": "NM_001300923.2",
"protein_id": "NP_001287852.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 255,
"cds_start": 302,
"cds_end": null,
"cds_length": 768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001300923.2"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYEOV",
"gene_hgnc_id": 7563,
"hgvs_c": "c.302T>C",
"hgvs_p": "p.Val101Ala",
"transcript": "NM_001300924.2",
"protein_id": "NP_001287853.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 255,
"cds_start": 302,
"cds_end": null,
"cds_length": 768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001300924.2"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYEOV",
"gene_hgnc_id": 7563,
"hgvs_c": "c.302T>C",
"hgvs_p": "p.Val101Ala",
"transcript": "ENST00000535407.1",
"protein_id": "ENSP00000438100.1",
"transcript_support_level": 2,
"aa_start": 101,
"aa_end": null,
"aa_length": 255,
"cds_start": 302,
"cds_end": null,
"cds_length": 768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000535407.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYEOV",
"gene_hgnc_id": 7563,
"hgvs_c": "c.476T>C",
"hgvs_p": "p.Val159Ala",
"transcript": "XM_047426763.1",
"protein_id": "XP_047282719.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 313,
"cds_start": 476,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426763.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYEOV",
"gene_hgnc_id": 7563,
"hgvs_c": "n.81T>C",
"hgvs_p": null,
"transcript": "ENST00000535597.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000535597.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MYEOV",
"gene_hgnc_id": 7563,
"hgvs_c": "n.426+1350T>C",
"hgvs_p": null,
"transcript": "ENST00000544008.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000544008.1"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYEOV",
"gene_hgnc_id": 7563,
"hgvs_c": "n.*76T>C",
"hgvs_p": null,
"transcript": "ENST00000539691.5",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000539691.5"
}
],
"gene_symbol": "MYEOV",
"gene_hgnc_id": 7563,
"dbsnp": "rs7103126",
"frequency_reference_population": 0.22083214,
"hom_count_reference_population": 54635,
"allele_count_reference_population": 356401,
"gnomad_exomes_af": 0.206857,
"gnomad_genomes_af": 0.355233,
"gnomad_exomes_ac": 302402,
"gnomad_genomes_ac": 53999,
"gnomad_exomes_homalt": 40335,
"gnomad_genomes_homalt": 14300,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0000012649877589865355,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": 0.011,
"revel_prediction": "Benign",
"alphamissense_score": 0.1398,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.87,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -4.291,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_138768.4",
"gene_symbol": "MYEOV",
"hgnc_id": 7563,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.476T>C",
"hgvs_p": "p.Val159Ala"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}