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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: 18-49851183-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=49851183&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 49851183,
"ref": "G",
"alt": "T",
"effect": "intron_variant",
"transcript": "NM_001080467.3",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": 31,
"intron_rank_end": null,
"gene_symbol": "MYO5B",
"gene_hgnc_id": 7603,
"hgvs_c": "c.4222-1523C>A",
"hgvs_p": null,
"transcript": "NM_001080467.3",
"protein_id": "NP_001073936.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1848,
"cds_start": null,
"cds_end": null,
"cds_length": 5547,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000285039.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001080467.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": 31,
"intron_rank_end": null,
"gene_symbol": "MYO5B",
"gene_hgnc_id": 7603,
"hgvs_c": "c.4222-1523C>A",
"hgvs_p": null,
"transcript": "ENST00000285039.12",
"protein_id": "ENSP00000285039.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1848,
"cds_start": null,
"cds_end": null,
"cds_length": 5547,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001080467.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000285039.12"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 29,
"intron_rank_end": null,
"gene_symbol": "MYO5B",
"gene_hgnc_id": 7603,
"hgvs_c": "c.3955-1523C>A",
"hgvs_p": null,
"transcript": "ENST00000697219.1",
"protein_id": "ENSP00000513188.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1759,
"cds_start": null,
"cds_end": null,
"cds_length": 5280,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000697219.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "MYO5B",
"gene_hgnc_id": 7603,
"hgvs_c": "c.3603+20984C>A",
"hgvs_p": null,
"transcript": "ENST00000908785.1",
"protein_id": "ENSP00000578844.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1251,
"cds_start": null,
"cds_end": null,
"cds_length": 3756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908785.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "MYO5B",
"gene_hgnc_id": 7603,
"hgvs_c": "c.1573-1523C>A",
"hgvs_p": null,
"transcript": "ENST00000324581.10",
"protein_id": "ENSP00000315531.7",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 965,
"cds_start": null,
"cds_end": null,
"cds_length": 2898,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000324581.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MYO5B",
"gene_hgnc_id": 7603,
"hgvs_c": "c.586-1523C>A",
"hgvs_p": null,
"transcript": "ENST00000697217.1",
"protein_id": "ENSP00000513187.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 636,
"cds_start": null,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000697217.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "MYO5B",
"gene_hgnc_id": 7603,
"hgvs_c": "n.1126-1523C>A",
"hgvs_p": null,
"transcript": "ENST00000697218.1",
"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": "ENST00000697218.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MYO5B",
"gene_hgnc_id": 7603,
"hgvs_c": "n.346-1523C>A",
"hgvs_p": null,
"transcript": "ENST00000697220.1",
"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": "ENST00000697220.1"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNHG22",
"gene_hgnc_id": 50285,
"hgvs_c": "n.*124G>T",
"hgvs_p": null,
"transcript": "ENST00000589499.1",
"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": "ENST00000589499.1"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNHG22",
"gene_hgnc_id": 50285,
"hgvs_c": "n.*124G>T",
"hgvs_p": null,
"transcript": "NR_117096.1",
"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": "NR_117096.1"
}
],
"gene_symbol": "MYO5B",
"gene_hgnc_id": 7603,
"dbsnp": "rs546341",
"frequency_reference_population": 0.8482581,
"hom_count_reference_population": 54836,
"allele_count_reference_population": 129093,
"gnomad_exomes_af": 1,
"gnomad_genomes_af": 0.848254,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": 129089,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 54834,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.949999988079071,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.95,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.273,
"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": -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_001080467.3",
"gene_symbol": "MYO5B",
"hgnc_id": 7603,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.4222-1523C>A",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000589499.1",
"gene_symbol": "SNHG22",
"hgnc_id": 50285,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*124G>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}