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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: 9-27455542-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=27455542&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "MOB3B",
"hgnc_id": 23825,
"hgvs_c": "c.9A>T",
"hgvs_p": "p.Ile3Ile",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -3,
"transcript": "NM_024761.5",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000300243",
"hgnc_id": null,
"hgvs_c": "n.149-2714T>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "ENST00000770344.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_score": -3,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.54,
"chr": "9",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.5400000214576721,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 216,
"aa_ref": "I",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6487,
"cdna_start": 467,
"cds_end": null,
"cds_length": 651,
"cds_start": 9,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_024761.5",
"gene_hgnc_id": 23825,
"gene_symbol": "MOB3B",
"hgvs_c": "c.9A>T",
"hgvs_p": "p.Ile3Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000262244.6",
"protein_coding": true,
"protein_id": "NP_079037.3",
"strand": false,
"transcript": "NM_024761.5",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 216,
"aa_ref": "I",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6487,
"cdna_start": 467,
"cds_end": null,
"cds_length": 651,
"cds_start": 9,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000262244.6",
"gene_hgnc_id": 23825,
"gene_symbol": "MOB3B",
"hgvs_c": "c.9A>T",
"hgvs_p": "p.Ile3Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_024761.5",
"protein_coding": true,
"protein_id": "ENSP00000262244.5",
"strand": false,
"transcript": "ENST00000262244.6",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 230,
"aa_ref": "I",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2607,
"cdna_start": 467,
"cds_end": null,
"cds_length": 693,
"cds_start": 9,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000900190.1",
"gene_hgnc_id": 23825,
"gene_symbol": "MOB3B",
"hgvs_c": "c.9A>T",
"hgvs_p": "p.Ile3Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570249.1",
"strand": false,
"transcript": "ENST00000900190.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 216,
"aa_ref": "I",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5831,
"cdna_start": 572,
"cds_end": null,
"cds_length": 651,
"cds_start": 9,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000900189.1",
"gene_hgnc_id": 23825,
"gene_symbol": "MOB3B",
"hgvs_c": "c.9A>T",
"hgvs_p": "p.Ile3Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570248.1",
"strand": false,
"transcript": "ENST00000900189.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 216,
"aa_ref": "I",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3245,
"cdna_start": 1147,
"cds_end": null,
"cds_length": 651,
"cds_start": 9,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000900191.1",
"gene_hgnc_id": 23825,
"gene_symbol": "MOB3B",
"hgvs_c": "c.9A>T",
"hgvs_p": "p.Ile3Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570250.1",
"strand": false,
"transcript": "ENST00000900191.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 216,
"aa_ref": "I",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2543,
"cdna_start": 446,
"cds_end": null,
"cds_length": 651,
"cds_start": 9,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000900192.1",
"gene_hgnc_id": 23825,
"gene_symbol": "MOB3B",
"hgvs_c": "c.9A>T",
"hgvs_p": "p.Ile3Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570251.1",
"strand": false,
"transcript": "ENST00000900192.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 216,
"aa_ref": "I",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2314,
"cdna_start": 651,
"cds_end": null,
"cds_length": 651,
"cds_start": 9,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000900193.1",
"gene_hgnc_id": 23825,
"gene_symbol": "MOB3B",
"hgvs_c": "c.9A>T",
"hgvs_p": "p.Ile3Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570252.1",
"strand": false,
"transcript": "ENST00000900193.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 216,
"aa_ref": "I",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6419,
"cdna_start": 1160,
"cds_end": null,
"cds_length": 651,
"cds_start": 9,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000900194.1",
"gene_hgnc_id": 23825,
"gene_symbol": "MOB3B",
"hgvs_c": "c.9A>T",
"hgvs_p": "p.Ile3Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570253.1",
"strand": false,
"transcript": "ENST00000900194.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 216,
"aa_ref": "I",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5799,
"cdna_start": 540,
"cds_end": null,
"cds_length": 651,
"cds_start": 9,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000967821.1",
"gene_hgnc_id": 23825,
"gene_symbol": "MOB3B",
"hgvs_c": "c.9A>T",
"hgvs_p": "p.Ile3Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637880.1",
"strand": false,
"transcript": "ENST00000967821.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 216,
"aa_ref": "I",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2472,
"cdna_start": 810,
"cds_end": null,
"cds_length": 651,
"cds_start": 9,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000967822.1",
"gene_hgnc_id": 23825,
"gene_symbol": "MOB3B",
"hgvs_c": "c.9A>T",
"hgvs_p": "p.Ile3Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637881.1",
"strand": false,
"transcript": "ENST00000967822.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 216,
"aa_ref": "I",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13396,
"cdna_start": 7376,
"cds_end": null,
"cds_length": 651,
"cds_start": 9,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_047423891.1",
"gene_hgnc_id": 23825,
"gene_symbol": "MOB3B",
"hgvs_c": "c.9A>T",
"hgvs_p": "p.Ile3Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047279847.1",
"strand": false,
"transcript": "XM_047423891.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 216,
"aa_ref": "I",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6444,
"cdna_start": 424,
"cds_end": null,
"cds_length": 651,
"cds_start": 9,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_047423892.1",
"gene_hgnc_id": 23825,
"gene_symbol": "MOB3B",
"hgvs_c": "c.9A>T",
"hgvs_p": "p.Ile3Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047279848.1",
"strand": false,
"transcript": "XM_047423892.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 216,
"aa_ref": "I",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7323,
"cdna_start": 1303,
"cds_end": null,
"cds_length": 651,
"cds_start": 9,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_047423893.1",
"gene_hgnc_id": 23825,
"gene_symbol": "MOB3B",
"hgvs_c": "c.9A>T",
"hgvs_p": "p.Ile3Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047279849.1",
"strand": false,
"transcript": "XM_047423893.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 216,
"aa_ref": "I",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12859,
"cdna_start": 6839,
"cds_end": null,
"cds_length": 651,
"cds_start": 9,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047423894.1",
"gene_hgnc_id": 23825,
"gene_symbol": "MOB3B",
"hgvs_c": "c.9A>T",
"hgvs_p": "p.Ile3Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047279850.1",
"strand": false,
"transcript": "XM_047423894.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 216,
"aa_ref": "I",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6327,
"cdna_start": 307,
"cds_end": null,
"cds_length": 651,
"cds_start": 9,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_047423895.1",
"gene_hgnc_id": 23825,
"gene_symbol": "MOB3B",
"hgvs_c": "c.9A>T",
"hgvs_p": "p.Ile3Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047279851.1",
"strand": false,
"transcript": "XM_047423895.1",
"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": 360,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000770344.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000300243",
"hgvs_c": "n.149-2714T>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000770344.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs767376313",
"effect": "synonymous_variant",
"frequency_reference_population": 6.8405444e-7,
"gene_hgnc_id": 23825,
"gene_symbol": "MOB3B",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 6.84054e-7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": -0.259,
"pos": 27455542,
"ref": "T",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_024761.5"
}
]
}