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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: 22-25761123-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=25761123&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 25761123,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_032608.7",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO18B",
"gene_hgnc_id": 18150,
"hgvs_c": "c.31G>A",
"hgvs_p": "p.Glu11Lys",
"transcript": "NM_032608.7",
"protein_id": "NP_115997.5",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 2567,
"cds_start": 31,
"cds_end": null,
"cds_length": 7704,
"cdna_start": 246,
"cdna_end": null,
"cdna_length": 8534,
"mane_select": "ENST00000335473.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO18B",
"gene_hgnc_id": 18150,
"hgvs_c": "c.31G>A",
"hgvs_p": "p.Glu11Lys",
"transcript": "ENST00000335473.12",
"protein_id": "ENSP00000334563.8",
"transcript_support_level": 1,
"aa_start": 11,
"aa_end": null,
"aa_length": 2567,
"cds_start": 31,
"cds_end": null,
"cds_length": 7704,
"cdna_start": 246,
"cdna_end": null,
"cdna_length": 8534,
"mane_select": "NM_032608.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO18B",
"gene_hgnc_id": 18150,
"hgvs_c": "c.31G>A",
"hgvs_p": "p.Glu11Lys",
"transcript": "ENST00000407587.6",
"protein_id": "ENSP00000386096.2",
"transcript_support_level": 1,
"aa_start": 11,
"aa_end": null,
"aa_length": 2568,
"cds_start": 31,
"cds_end": null,
"cds_length": 7707,
"cdna_start": 200,
"cdna_end": null,
"cdna_length": 8090,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO18B",
"gene_hgnc_id": 18150,
"hgvs_c": "c.31G>A",
"hgvs_p": "p.Glu11Lys",
"transcript": "ENST00000536101.5",
"protein_id": "ENSP00000441229.1",
"transcript_support_level": 1,
"aa_start": 11,
"aa_end": null,
"aa_length": 2567,
"cds_start": 31,
"cds_end": null,
"cds_length": 7704,
"cdna_start": 290,
"cdna_end": null,
"cdna_length": 8051,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO18B",
"gene_hgnc_id": 18150,
"hgvs_c": "n.31G>A",
"hgvs_p": null,
"transcript": "ENST00000539302.5",
"protein_id": "ENSP00000437587.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7774,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO18B",
"gene_hgnc_id": 18150,
"hgvs_c": "c.31G>A",
"hgvs_p": "p.Glu11Lys",
"transcript": "NM_001318245.2",
"protein_id": "NP_001305174.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 2568,
"cds_start": 31,
"cds_end": null,
"cds_length": 7707,
"cdna_start": 246,
"cdna_end": null,
"cdna_length": 8537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO18B",
"gene_hgnc_id": 18150,
"hgvs_c": "c.31G>A",
"hgvs_p": "p.Glu11Lys",
"transcript": "XM_011530458.3",
"protein_id": "XP_011528760.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 2610,
"cds_start": 31,
"cds_end": null,
"cds_length": 7833,
"cdna_start": 246,
"cdna_end": null,
"cdna_length": 8663,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO18B",
"gene_hgnc_id": 18150,
"hgvs_c": "c.31G>A",
"hgvs_p": "p.Glu11Lys",
"transcript": "XM_011530459.3",
"protein_id": "XP_011528761.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 2610,
"cds_start": 31,
"cds_end": null,
"cds_length": 7833,
"cdna_start": 271,
"cdna_end": null,
"cdna_length": 8688,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO18B",
"gene_hgnc_id": 18150,
"hgvs_c": "c.31G>A",
"hgvs_p": "p.Glu11Lys",
"transcript": "XM_011530461.3",
"protein_id": "XP_011528763.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 2610,
"cds_start": 31,
"cds_end": null,
"cds_length": 7833,
"cdna_start": 246,
"cdna_end": null,
"cdna_length": 15286,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO18B",
"gene_hgnc_id": 18150,
"hgvs_c": "c.31G>A",
"hgvs_p": "p.Glu11Lys",
"transcript": "XM_017029013.2",
"protein_id": "XP_016884502.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 2610,
"cds_start": 31,
"cds_end": null,
"cds_length": 7833,
"cdna_start": 346,
"cdna_end": null,
"cdna_length": 8763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO18B",
"gene_hgnc_id": 18150,
"hgvs_c": "c.31G>A",
"hgvs_p": "p.Glu11Lys",
"transcript": "XM_011530464.3",
"protein_id": "XP_011528766.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 2609,
"cds_start": 31,
"cds_end": null,
"cds_length": 7830,
"cdna_start": 246,
"cdna_end": null,
"cdna_length": 8660,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO18B",
"gene_hgnc_id": 18150,
"hgvs_c": "c.31G>A",
"hgvs_p": "p.Glu11Lys",
"transcript": "XM_017029014.2",
"protein_id": "XP_016884503.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 2609,
"cds_start": 31,
"cds_end": null,
"cds_length": 7830,
"cdna_start": 246,
"cdna_end": null,
"cdna_length": 8660,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO18B",
"gene_hgnc_id": 18150,
"hgvs_c": "c.31G>A",
"hgvs_p": "p.Glu11Lys",
"transcript": "XM_047441551.1",
"protein_id": "XP_047297507.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 2608,
"cds_start": 31,
"cds_end": null,
"cds_length": 7827,
"cdna_start": 246,
"cdna_end": null,
"cdna_length": 8657,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO18B",
"gene_hgnc_id": 18150,
"hgvs_c": "c.31G>A",
"hgvs_p": "p.Glu11Lys",
"transcript": "XM_017029015.2",
"protein_id": "XP_016884504.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 2566,
"cds_start": 31,
"cds_end": null,
"cds_length": 7701,
"cdna_start": 246,
"cdna_end": null,
"cdna_length": 8531,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO18B",
"gene_hgnc_id": 18150,
"hgvs_c": "c.31G>A",
"hgvs_p": "p.Glu11Lys",
"transcript": "XM_011530466.3",
"protein_id": "XP_011528768.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 2163,
"cds_start": 31,
"cds_end": null,
"cds_length": 6492,
"cdna_start": 246,
"cdna_end": null,
"cdna_length": 6780,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO18B",
"gene_hgnc_id": 18150,
"hgvs_c": "c.-128G>A",
"hgvs_p": null,
"transcript": "XM_011530460.3",
"protein_id": "XP_011528762.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2610,
"cds_start": -4,
"cds_end": null,
"cds_length": 7833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8561,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO18B",
"gene_hgnc_id": 18150,
"hgvs_c": "c.-702G>A",
"hgvs_p": null,
"transcript": "XM_011530465.3",
"protein_id": "XP_011528767.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2449,
"cds_start": -4,
"cds_end": null,
"cds_length": 7350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8475,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MYO18B",
"gene_hgnc_id": 18150,
"dbsnp": "rs757976244",
"frequency_reference_population": 0.00000205336,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205336,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6812332272529602,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.465,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9292,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.01,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.754,
"phylop100way_prediction": "Uncertain_significance",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_032608.7",
"gene_symbol": "MYO18B",
"hgnc_id": 18150,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.31G>A",
"hgvs_p": "p.Glu11Lys"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}