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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: 15-59217944-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=59217944&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 59217944,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_004998.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO1E",
"gene_hgnc_id": 7599,
"hgvs_c": "c.1054C>T",
"hgvs_p": "p.Arg352Trp",
"transcript": "NM_004998.4",
"protein_id": "NP_004989.2",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 1108,
"cds_start": 1054,
"cds_end": null,
"cds_length": 3327,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000288235.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004998.4"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO1E",
"gene_hgnc_id": 7599,
"hgvs_c": "c.1054C>T",
"hgvs_p": "p.Arg352Trp",
"transcript": "ENST00000288235.9",
"protein_id": "ENSP00000288235.4",
"transcript_support_level": 1,
"aa_start": 352,
"aa_end": null,
"aa_length": 1108,
"cds_start": 1054,
"cds_end": null,
"cds_length": 3327,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004998.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000288235.9"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO1E",
"gene_hgnc_id": 7599,
"hgvs_c": "c.1054C>T",
"hgvs_p": "p.Arg352Trp",
"transcript": "ENST00000884343.1",
"protein_id": "ENSP00000554402.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 1119,
"cds_start": 1054,
"cds_end": null,
"cds_length": 3360,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884343.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO1E",
"gene_hgnc_id": 7599,
"hgvs_c": "c.1027C>T",
"hgvs_p": "p.Arg343Trp",
"transcript": "ENST00000884345.1",
"protein_id": "ENSP00000554404.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 1099,
"cds_start": 1027,
"cds_end": null,
"cds_length": 3300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884345.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO1E",
"gene_hgnc_id": 7599,
"hgvs_c": "c.1054C>T",
"hgvs_p": "p.Arg352Trp",
"transcript": "ENST00000884339.1",
"protein_id": "ENSP00000554398.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 1081,
"cds_start": 1054,
"cds_end": null,
"cds_length": 3246,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884339.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO1E",
"gene_hgnc_id": 7599,
"hgvs_c": "c.1054C>T",
"hgvs_p": "p.Arg352Trp",
"transcript": "ENST00000929058.1",
"protein_id": "ENSP00000599117.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 1067,
"cds_start": 1054,
"cds_end": null,
"cds_length": 3204,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929058.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO1E",
"gene_hgnc_id": 7599,
"hgvs_c": "c.922C>T",
"hgvs_p": "p.Arg308Trp",
"transcript": "ENST00000884338.1",
"protein_id": "ENSP00000554397.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 1064,
"cds_start": 922,
"cds_end": null,
"cds_length": 3195,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884338.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO1E",
"gene_hgnc_id": 7599,
"hgvs_c": "c.1054C>T",
"hgvs_p": "p.Arg352Trp",
"transcript": "ENST00000884344.1",
"protein_id": "ENSP00000554403.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 1059,
"cds_start": 1054,
"cds_end": null,
"cds_length": 3180,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884344.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO1E",
"gene_hgnc_id": 7599,
"hgvs_c": "c.1054C>T",
"hgvs_p": "p.Arg352Trp",
"transcript": "ENST00000884341.1",
"protein_id": "ENSP00000554400.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 1052,
"cds_start": 1054,
"cds_end": null,
"cds_length": 3159,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884341.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO1E",
"gene_hgnc_id": 7599,
"hgvs_c": "c.1054C>T",
"hgvs_p": "p.Arg352Trp",
"transcript": "ENST00000929057.1",
"protein_id": "ENSP00000599116.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 1045,
"cds_start": 1054,
"cds_end": null,
"cds_length": 3138,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929057.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO1E",
"gene_hgnc_id": 7599,
"hgvs_c": "c.820C>T",
"hgvs_p": "p.Arg274Trp",
"transcript": "ENST00000884340.1",
"protein_id": "ENSP00000554399.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 1030,
"cds_start": 820,
"cds_end": null,
"cds_length": 3093,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884340.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO1E",
"gene_hgnc_id": 7599,
"hgvs_c": "c.1054C>T",
"hgvs_p": "p.Arg352Trp",
"transcript": "ENST00000884342.1",
"protein_id": "ENSP00000554401.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 911,
"cds_start": 1054,
"cds_end": null,
"cds_length": 2736,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884342.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO1E",
"gene_hgnc_id": 7599,
"hgvs_c": "c.544C>T",
"hgvs_p": "p.Arg182Trp",
"transcript": "ENST00000559269.5",
"protein_id": "ENSP00000453232.1",
"transcript_support_level": 5,
"aa_start": 182,
"aa_end": null,
"aa_length": 275,
"cds_start": 544,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000559269.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO1E",
"gene_hgnc_id": 7599,
"hgvs_c": "c.214C>T",
"hgvs_p": "p.Arg72Trp",
"transcript": "ENST00000559489.1",
"protein_id": "ENSP00000453178.1",
"transcript_support_level": 4,
"aa_start": 72,
"aa_end": null,
"aa_length": 186,
"cds_start": 214,
"cds_end": null,
"cds_length": 562,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000559489.1"
}
],
"gene_symbol": "MYO1E",
"gene_hgnc_id": 7599,
"dbsnp": "rs1477519647",
"frequency_reference_population": 0.0000047883154,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000478832,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9856466054916382,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.916,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9927,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.51,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 1.329,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3_Strong",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PP3_Strong"
],
"verdict": "Uncertain_significance",
"transcript": "NM_004998.4",
"gene_symbol": "MYO1E",
"hgnc_id": 7599,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1054C>T",
"hgvs_p": "p.Arg352Trp"
}
],
"clinvar_disease": "Inborn genetic diseases,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Inborn genetic diseases|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}