← 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: 12-57039267-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=57039267&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MYO1A",
"hgnc_id": 7595,
"hgvs_c": "c.1277C>T",
"hgvs_p": "p.Pro426Leu",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_005379.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_score": -20,
"allele_count_reference_population": 12017,
"alphamissense_prediction": null,
"alphamissense_score": 0.0792,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.24,
"chr": "12",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": "not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:3",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.0035052895545959473,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1043,
"aa_ref": "P",
"aa_start": 426,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3633,
"cdna_start": 1540,
"cds_end": null,
"cds_length": 3132,
"cds_start": 1277,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_005379.4",
"gene_hgnc_id": 7595,
"gene_symbol": "MYO1A",
"hgvs_c": "c.1277C>T",
"hgvs_p": "p.Pro426Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000300119.8",
"protein_coding": true,
"protein_id": "NP_005370.1",
"strand": false,
"transcript": "NM_005379.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1043,
"aa_ref": "P",
"aa_start": 426,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3633,
"cdna_start": 1540,
"cds_end": null,
"cds_length": 3132,
"cds_start": 1277,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000300119.8",
"gene_hgnc_id": 7595,
"gene_symbol": "MYO1A",
"hgvs_c": "c.1277C>T",
"hgvs_p": "p.Pro426Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005379.4",
"protein_coding": true,
"protein_id": "ENSP00000300119.3",
"strand": false,
"transcript": "ENST00000300119.8",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1043,
"aa_ref": "P",
"aa_start": 426,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3658,
"cdna_start": 1565,
"cds_end": null,
"cds_length": 3132,
"cds_start": 1277,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000442789.6",
"gene_hgnc_id": 7595,
"gene_symbol": "MYO1A",
"hgvs_c": "c.1277C>T",
"hgvs_p": "p.Pro426Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000393392.2",
"strand": false,
"transcript": "ENST00000442789.6",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1087,
"aa_ref": "P",
"aa_start": 470,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3745,
"cdna_start": 1660,
"cds_end": null,
"cds_length": 3264,
"cds_start": 1409,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000907120.1",
"gene_hgnc_id": 7595,
"gene_symbol": "MYO1A",
"hgvs_c": "c.1409C>T",
"hgvs_p": "p.Pro470Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577179.1",
"strand": false,
"transcript": "ENST00000907120.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1043,
"aa_ref": "P",
"aa_start": 426,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4091,
"cdna_start": 1998,
"cds_end": null,
"cds_length": 3132,
"cds_start": 1277,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001256041.2",
"gene_hgnc_id": 7595,
"gene_symbol": "MYO1A",
"hgvs_c": "c.1277C>T",
"hgvs_p": "p.Pro426Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001242970.1",
"strand": false,
"transcript": "NM_001256041.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1043,
"aa_ref": "P",
"aa_start": 426,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3615,
"cdna_start": 1522,
"cds_end": null,
"cds_length": 3132,
"cds_start": 1277,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000907119.1",
"gene_hgnc_id": 7595,
"gene_symbol": "MYO1A",
"hgvs_c": "c.1277C>T",
"hgvs_p": "p.Pro426Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577178.1",
"strand": false,
"transcript": "ENST00000907119.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1032,
"aa_ref": "P",
"aa_start": 415,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3508,
"cdna_start": 1515,
"cds_end": null,
"cds_length": 3099,
"cds_start": 1244,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000907121.1",
"gene_hgnc_id": 7595,
"gene_symbol": "MYO1A",
"hgvs_c": "c.1244C>T",
"hgvs_p": "p.Pro415Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577180.1",
"strand": false,
"transcript": "ENST00000907121.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1020,
"aa_ref": "P",
"aa_start": 426,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3467,
"cdna_start": 1543,
"cds_end": null,
"cds_length": 3063,
"cds_start": 1277,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000966311.1",
"gene_hgnc_id": 7595,
"gene_symbol": "MYO1A",
"hgvs_c": "c.1277C>T",
"hgvs_p": "p.Pro426Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636371.1",
"strand": false,
"transcript": "ENST00000966311.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 959,
"aa_ref": "P",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3381,
"cdna_start": 1291,
"cds_end": null,
"cds_length": 2880,
"cds_start": 1025,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000907118.1",
"gene_hgnc_id": 7595,
"gene_symbol": "MYO1A",
"hgvs_c": "c.1025C>T",
"hgvs_p": "p.Pro342Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577177.1",
"strand": false,
"transcript": "ENST00000907118.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1043,
"aa_ref": "P",
"aa_start": 426,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3664,
"cdna_start": 1571,
"cds_end": null,
"cds_length": 3132,
"cds_start": 1277,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_047428876.1",
"gene_hgnc_id": 7595,
"gene_symbol": "MYO1A",
"hgvs_c": "c.1277C>T",
"hgvs_p": "p.Pro426Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047284832.1",
"strand": false,
"transcript": "XM_047428876.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 866,
"aa_ref": "P",
"aa_start": 426,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2980,
"cdna_start": 1540,
"cds_end": null,
"cds_length": 2601,
"cds_start": 1277,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_011538373.3",
"gene_hgnc_id": 7595,
"gene_symbol": "MYO1A",
"hgvs_c": "c.1277C>T",
"hgvs_p": "p.Pro426Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011536675.1",
"strand": false,
"transcript": "XM_011538373.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 631,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000476795.1",
"gene_hgnc_id": 7595,
"gene_symbol": "MYO1A",
"hgvs_c": "n.174C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000476795.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3099,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 24,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000554234.5",
"gene_hgnc_id": 7595,
"gene_symbol": "MYO1A",
"hgvs_c": "n.791C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000451033.1",
"strand": false,
"transcript": "ENST00000554234.5",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs4759043",
"effect": "missense_variant",
"frequency_reference_population": 0.007446557,
"gene_hgnc_id": 7595,
"gene_symbol": "MYO1A",
"gnomad_exomes_ac": 10138,
"gnomad_exomes_af": 0.00693694,
"gnomad_exomes_homalt": 1162,
"gnomad_genomes_ac": 1879,
"gnomad_genomes_af": 0.0123364,
"gnomad_genomes_homalt": 135,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 1297,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Benign/Likely benign",
"phenotype_combined": "not specified|not provided",
"phylop100way_prediction": "Benign",
"phylop100way_score": 2.715,
"pos": 57039267,
"ref": "G",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.363,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.14000000059604645,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.14,
"transcript": "NM_005379.4"
}
]
}