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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: 17-58495384-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=58495384&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MTMR4",
"hgnc_id": 7452,
"hgvs_c": "c.2800G>A",
"hgvs_p": "p.Gly934Arg",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001378067.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": 0.1511,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.09,
"chr": "17",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.2507364749908447,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1209,
"aa_ref": "G",
"aa_start": 934,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5987,
"cdna_start": 3031,
"cds_end": null,
"cds_length": 3630,
"cds_start": 2800,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001378067.1",
"gene_hgnc_id": 7452,
"gene_symbol": "MTMR4",
"hgvs_c": "c.2800G>A",
"hgvs_p": "p.Gly934Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000682306.1",
"protein_coding": true,
"protein_id": "NP_001364996.1",
"strand": false,
"transcript": "NM_001378067.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1209,
"aa_ref": "G",
"aa_start": 934,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5987,
"cdna_start": 3031,
"cds_end": null,
"cds_length": 3630,
"cds_start": 2800,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000682306.1",
"gene_hgnc_id": 7452,
"gene_symbol": "MTMR4",
"hgvs_c": "c.2800G>A",
"hgvs_p": "p.Gly934Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001378067.1",
"protein_coding": true,
"protein_id": "ENSP00000507664.1",
"strand": false,
"transcript": "ENST00000682306.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1195,
"aa_ref": "G",
"aa_start": 920,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5839,
"cdna_start": 2883,
"cds_end": null,
"cds_length": 3588,
"cds_start": 2758,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000323456.9",
"gene_hgnc_id": 7452,
"gene_symbol": "MTMR4",
"hgvs_c": "c.2758G>A",
"hgvs_p": "p.Gly920Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000325285.5",
"strand": false,
"transcript": "ENST00000323456.9",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1241,
"aa_ref": "G",
"aa_start": 966,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6046,
"cdna_start": 3090,
"cds_end": null,
"cds_length": 3726,
"cds_start": 2896,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000955804.1",
"gene_hgnc_id": 7452,
"gene_symbol": "MTMR4",
"hgvs_c": "c.2896G>A",
"hgvs_p": "p.Gly966Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625863.1",
"strand": false,
"transcript": "ENST00000955804.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1199,
"aa_ref": "G",
"aa_start": 924,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5906,
"cdna_start": 2950,
"cds_end": null,
"cds_length": 3600,
"cds_start": 2770,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001378066.1",
"gene_hgnc_id": 7452,
"gene_symbol": "MTMR4",
"hgvs_c": "c.2770G>A",
"hgvs_p": "p.Gly924Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001364995.1",
"strand": false,
"transcript": "NM_001378066.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1195,
"aa_ref": "G",
"aa_start": 920,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5814,
"cdna_start": 2858,
"cds_end": null,
"cds_length": 3588,
"cds_start": 2758,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_004687.5",
"gene_hgnc_id": 7452,
"gene_symbol": "MTMR4",
"hgvs_c": "c.2758G>A",
"hgvs_p": "p.Gly920Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_004678.3",
"strand": false,
"transcript": "NM_004687.5",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1170,
"aa_ref": "G",
"aa_start": 895,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4629,
"cdna_start": 2854,
"cds_end": null,
"cds_length": 3513,
"cds_start": 2683,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000938934.1",
"gene_hgnc_id": 7452,
"gene_symbol": "MTMR4",
"hgvs_c": "c.2683G>A",
"hgvs_p": "p.Gly895Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608993.1",
"strand": false,
"transcript": "ENST00000938934.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1138,
"aa_ref": "G",
"aa_start": 863,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5622,
"cdna_start": 2658,
"cds_end": null,
"cds_length": 3417,
"cds_start": 2587,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000579925.5",
"gene_hgnc_id": 7452,
"gene_symbol": "MTMR4",
"hgvs_c": "c.2587G>A",
"hgvs_p": "p.Gly863Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000464067.1",
"strand": false,
"transcript": "ENST00000579925.5",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1199,
"aa_ref": "G",
"aa_start": 924,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7019,
"cdna_start": 4063,
"cds_end": null,
"cds_length": 3600,
"cds_start": 2770,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_011525460.4",
"gene_hgnc_id": 7452,
"gene_symbol": "MTMR4",
"hgvs_c": "c.2770G>A",
"hgvs_p": "p.Gly924Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011523762.1",
"strand": false,
"transcript": "XM_011525460.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1195,
"aa_ref": "G",
"aa_start": 920,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6927,
"cdna_start": 3971,
"cds_end": null,
"cds_length": 3588,
"cds_start": 2758,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_005257786.6",
"gene_hgnc_id": 7452,
"gene_symbol": "MTMR4",
"hgvs_c": "c.2758G>A",
"hgvs_p": "p.Gly920Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005257843.1",
"strand": false,
"transcript": "XM_005257786.6",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1195,
"aa_ref": "G",
"aa_start": 920,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6706,
"cdna_start": 3750,
"cds_end": null,
"cds_length": 3588,
"cds_start": 2758,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_006722168.5",
"gene_hgnc_id": 7452,
"gene_symbol": "MTMR4",
"hgvs_c": "c.2758G>A",
"hgvs_p": "p.Gly920Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006722231.1",
"strand": false,
"transcript": "XM_006722168.5",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1195,
"aa_ref": "G",
"aa_start": 920,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6588,
"cdna_start": 3632,
"cds_end": null,
"cds_length": 3588,
"cds_start": 2758,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_047437019.1",
"gene_hgnc_id": 7452,
"gene_symbol": "MTMR4",
"hgvs_c": "c.2758G>A",
"hgvs_p": "p.Gly920Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292975.1",
"strand": false,
"transcript": "XM_047437019.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs202152950",
"effect": "missense_variant",
"frequency_reference_population": 0.0000020521577,
"gene_hgnc_id": 7452,
"gene_symbol": "MTMR4",
"gnomad_exomes_ac": 3,
"gnomad_exomes_af": 0.00000205216,
"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": "Uncertain_significance",
"phylop100way_score": 5.175,
"pos": 58495384,
"ref": "C",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.368,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001378067.1"
}
]
}