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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: 2-191364256-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=191364256&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 191364256,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000392318.8",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO1B",
"gene_hgnc_id": 7596,
"hgvs_c": "c.1012A>G",
"hgvs_p": "p.Thr338Ala",
"transcript": "NM_001130158.3",
"protein_id": "NP_001123630.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 1136,
"cds_start": 1012,
"cds_end": null,
"cds_length": 3411,
"cdna_start": 1244,
"cdna_end": null,
"cdna_length": 5069,
"mane_select": "ENST00000392318.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO1B",
"gene_hgnc_id": 7596,
"hgvs_c": "c.1012A>G",
"hgvs_p": "p.Thr338Ala",
"transcript": "ENST00000392318.8",
"protein_id": "ENSP00000376132.3",
"transcript_support_level": 1,
"aa_start": 338,
"aa_end": null,
"aa_length": 1136,
"cds_start": 1012,
"cds_end": null,
"cds_length": 3411,
"cdna_start": 1244,
"cdna_end": null,
"cdna_length": 5069,
"mane_select": "NM_001130158.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO1B",
"gene_hgnc_id": 7596,
"hgvs_c": "c.1012A>G",
"hgvs_p": "p.Thr338Ala",
"transcript": "ENST00000304164.8",
"protein_id": "ENSP00000306382.4",
"transcript_support_level": 1,
"aa_start": 338,
"aa_end": null,
"aa_length": 1136,
"cds_start": 1012,
"cds_end": null,
"cds_length": 3411,
"cdna_start": 1105,
"cdna_end": null,
"cdna_length": 4933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO1B",
"gene_hgnc_id": 7596,
"hgvs_c": "c.1012A>G",
"hgvs_p": "p.Thr338Ala",
"transcript": "ENST00000339514.8",
"protein_id": "ENSP00000341903.4",
"transcript_support_level": 1,
"aa_start": 338,
"aa_end": null,
"aa_length": 1078,
"cds_start": 1012,
"cds_end": null,
"cds_length": 3237,
"cdna_start": 1372,
"cdna_end": null,
"cdna_length": 5026,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO1B",
"gene_hgnc_id": 7596,
"hgvs_c": "c.1012A>G",
"hgvs_p": "p.Thr338Ala",
"transcript": "NM_001161819.3",
"protein_id": "NP_001155291.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 1136,
"cds_start": 1012,
"cds_end": null,
"cds_length": 3411,
"cdna_start": 1229,
"cdna_end": null,
"cdna_length": 5054,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO1B",
"gene_hgnc_id": 7596,
"hgvs_c": "c.1012A>G",
"hgvs_p": "p.Thr338Ala",
"transcript": "NM_001330237.2",
"protein_id": "NP_001317166.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 1107,
"cds_start": 1012,
"cds_end": null,
"cds_length": 3324,
"cdna_start": 1244,
"cdna_end": null,
"cdna_length": 4982,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO1B",
"gene_hgnc_id": 7596,
"hgvs_c": "c.1012A>G",
"hgvs_p": "p.Thr338Ala",
"transcript": "NM_001330238.2",
"protein_id": "NP_001317167.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 1107,
"cds_start": 1012,
"cds_end": null,
"cds_length": 3324,
"cdna_start": 1244,
"cdna_end": null,
"cdna_length": 4982,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO1B",
"gene_hgnc_id": 7596,
"hgvs_c": "c.1012A>G",
"hgvs_p": "p.Thr338Ala",
"transcript": "ENST00000392316.5",
"protein_id": "ENSP00000376130.1",
"transcript_support_level": 5,
"aa_start": 338,
"aa_end": null,
"aa_length": 1107,
"cds_start": 1012,
"cds_end": null,
"cds_length": 3324,
"cdna_start": 1023,
"cdna_end": null,
"cdna_length": 4764,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO1B",
"gene_hgnc_id": 7596,
"hgvs_c": "c.1012A>G",
"hgvs_p": "p.Thr338Ala",
"transcript": "NM_012223.5",
"protein_id": "NP_036355.2",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 1078,
"cds_start": 1012,
"cds_end": null,
"cds_length": 3237,
"cdna_start": 1244,
"cdna_end": null,
"cdna_length": 4895,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO1B",
"gene_hgnc_id": 7596,
"hgvs_c": "c.1072A>G",
"hgvs_p": "p.Thr358Ala",
"transcript": "XM_047444410.1",
"protein_id": "XP_047300366.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 1156,
"cds_start": 1072,
"cds_end": null,
"cds_length": 3471,
"cdna_start": 1358,
"cdna_end": null,
"cdna_length": 5183,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO1B",
"gene_hgnc_id": 7596,
"hgvs_c": "c.1072A>G",
"hgvs_p": "p.Thr358Ala",
"transcript": "XM_047444411.1",
"protein_id": "XP_047300367.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 1156,
"cds_start": 1072,
"cds_end": null,
"cds_length": 3471,
"cdna_start": 1215,
"cdna_end": null,
"cdna_length": 5040,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO1B",
"gene_hgnc_id": 7596,
"hgvs_c": "c.1012A>G",
"hgvs_p": "p.Thr338Ala",
"transcript": "XM_005246572.2",
"protein_id": "XP_005246629.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 1136,
"cds_start": 1012,
"cds_end": null,
"cds_length": 3411,
"cdna_start": 1130,
"cdna_end": null,
"cdna_length": 4955,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO1B",
"gene_hgnc_id": 7596,
"hgvs_c": "c.1072A>G",
"hgvs_p": "p.Thr358Ala",
"transcript": "XM_024452914.2",
"protein_id": "XP_024308682.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 1127,
"cds_start": 1072,
"cds_end": null,
"cds_length": 3384,
"cdna_start": 1358,
"cdna_end": null,
"cdna_length": 5096,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO1B",
"gene_hgnc_id": 7596,
"hgvs_c": "c.1072A>G",
"hgvs_p": "p.Thr358Ala",
"transcript": "XM_047444412.1",
"protein_id": "XP_047300368.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 1127,
"cds_start": 1072,
"cds_end": null,
"cds_length": 3384,
"cdna_start": 1358,
"cdna_end": null,
"cdna_length": 5096,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO1B",
"gene_hgnc_id": 7596,
"hgvs_c": "c.1012A>G",
"hgvs_p": "p.Thr338Ala",
"transcript": "XM_047444413.1",
"protein_id": "XP_047300369.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 1107,
"cds_start": 1012,
"cds_end": null,
"cds_length": 3324,
"cdna_start": 1130,
"cdna_end": null,
"cdna_length": 4868,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO1B",
"gene_hgnc_id": 7596,
"hgvs_c": "c.1072A>G",
"hgvs_p": "p.Thr358Ala",
"transcript": "XM_024452915.2",
"protein_id": "XP_024308683.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 1098,
"cds_start": 1072,
"cds_end": null,
"cds_length": 3297,
"cdna_start": 1358,
"cdna_end": null,
"cdna_length": 5009,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO1B",
"gene_hgnc_id": 7596,
"hgvs_c": "c.1072A>G",
"hgvs_p": "p.Thr358Ala",
"transcript": "XM_047444415.1",
"protein_id": "XP_047300371.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 1098,
"cds_start": 1072,
"cds_end": null,
"cds_length": 3297,
"cdna_start": 1219,
"cdna_end": null,
"cdna_length": 4870,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO1B",
"gene_hgnc_id": 7596,
"hgvs_c": "c.649A>G",
"hgvs_p": "p.Thr217Ala",
"transcript": "XM_017004158.2",
"protein_id": "XP_016859647.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 1015,
"cds_start": 649,
"cds_end": null,
"cds_length": 3048,
"cdna_start": 856,
"cdna_end": null,
"cdna_length": 4681,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MYO1B",
"gene_hgnc_id": 7596,
"dbsnp": "rs764901908",
"frequency_reference_population": 0.000010535801,
"hom_count_reference_population": 0,
"allele_count_reference_population": 17,
"gnomad_exomes_af": 0.00000889696,
"gnomad_genomes_af": 0.0000262515,
"gnomad_exomes_ac": 13,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5647260546684265,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.599,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.5398,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.1,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 8.215,
"phylop100way_prediction": "Pathogenic",
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000392318.8",
"gene_symbol": "MYO1B",
"hgnc_id": 7596,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1012A>G",
"hgvs_p": "p.Thr338Ala"
}
],
"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
}