← 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: X-47915116-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=47915116&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"BP6",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ZNF81",
"hgnc_id": 13156,
"hgvs_c": "c.470A>G",
"hgvs_p": "p.Asn157Ser",
"inheritance_mode": "XL,Unknown",
"pathogenic_score": 0,
"score": -5,
"transcript": "NM_007137.5",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP6,BS2",
"acmg_score": -5,
"allele_count_reference_population": 8810,
"alphamissense_prediction": null,
"alphamissense_score": 0.0774,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -1.12,
"chr": "X",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "not provided,not specified",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1 B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.005685329437255859,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 661,
"aa_ref": "N",
"aa_start": 157,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11230,
"cdna_start": 719,
"cds_end": null,
"cds_length": 1986,
"cds_start": 470,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_007137.5",
"gene_hgnc_id": 13156,
"gene_symbol": "ZNF81",
"hgvs_c": "c.470A>G",
"hgvs_p": "p.Asn157Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000338637.13",
"protein_coding": true,
"protein_id": "NP_009068.2",
"strand": true,
"transcript": "NM_007137.5",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 661,
"aa_ref": "N",
"aa_start": 157,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 11230,
"cdna_start": 719,
"cds_end": null,
"cds_length": 1986,
"cds_start": 470,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000338637.13",
"gene_hgnc_id": 13156,
"gene_symbol": "ZNF81",
"hgvs_c": "c.470A>G",
"hgvs_p": "p.Asn157Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_007137.5",
"protein_coding": true,
"protein_id": "ENSP00000341151.7",
"strand": true,
"transcript": "ENST00000338637.13",
"transcript_support_level": 3
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 661,
"aa_ref": "N",
"aa_start": 157,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7953,
"cdna_start": 858,
"cds_end": null,
"cds_length": 1986,
"cds_start": 470,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001378152.1",
"gene_hgnc_id": 13156,
"gene_symbol": "ZNF81",
"hgvs_c": "c.470A>G",
"hgvs_p": "p.Asn157Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365081.1",
"strand": true,
"transcript": "NM_001378152.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 661,
"aa_ref": "N",
"aa_start": 157,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7834,
"cdna_start": 739,
"cds_end": null,
"cds_length": 1986,
"cds_start": 470,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001378153.1",
"gene_hgnc_id": 13156,
"gene_symbol": "ZNF81",
"hgvs_c": "c.470A>G",
"hgvs_p": "p.Asn157Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365082.1",
"strand": true,
"transcript": "NM_001378153.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 661,
"aa_ref": "N",
"aa_start": 157,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11349,
"cdna_start": 838,
"cds_end": null,
"cds_length": 1986,
"cds_start": 470,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000376954.6",
"gene_hgnc_id": 13156,
"gene_symbol": "ZNF81",
"hgvs_c": "c.470A>G",
"hgvs_p": "p.Asn157Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000366153.1",
"strand": true,
"transcript": "ENST00000376954.6",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 661,
"aa_ref": "N",
"aa_start": 157,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3809,
"cdna_start": 785,
"cds_end": null,
"cds_length": 1986,
"cds_start": 470,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000853619.1",
"gene_hgnc_id": 13156,
"gene_symbol": "ZNF81",
"hgvs_c": "c.470A>G",
"hgvs_p": "p.Asn157Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523678.1",
"strand": true,
"transcript": "ENST00000853619.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 661,
"aa_ref": "N",
"aa_start": 157,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3848,
"cdna_start": 768,
"cds_end": null,
"cds_length": 1986,
"cds_start": 470,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000853620.1",
"gene_hgnc_id": 13156,
"gene_symbol": "ZNF81",
"hgvs_c": "c.470A>G",
"hgvs_p": "p.Asn157Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523679.1",
"strand": true,
"transcript": "ENST00000853620.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 661,
"aa_ref": "N",
"aa_start": 157,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3853,
"cdna_start": 829,
"cds_end": null,
"cds_length": 1986,
"cds_start": 470,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000853621.1",
"gene_hgnc_id": 13156,
"gene_symbol": "ZNF81",
"hgvs_c": "c.470A>G",
"hgvs_p": "p.Asn157Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523680.1",
"strand": true,
"transcript": "ENST00000853621.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 661,
"aa_ref": "N",
"aa_start": 157,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3514,
"cdna_start": 930,
"cds_end": null,
"cds_length": 1986,
"cds_start": 470,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000853622.1",
"gene_hgnc_id": 13156,
"gene_symbol": "ZNF81",
"hgvs_c": "c.470A>G",
"hgvs_p": "p.Asn157Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523681.1",
"strand": true,
"transcript": "ENST00000853622.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 661,
"aa_ref": "N",
"aa_start": 157,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3663,
"cdna_start": 1386,
"cds_end": null,
"cds_length": 1986,
"cds_start": 470,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000853623.1",
"gene_hgnc_id": 13156,
"gene_symbol": "ZNF81",
"hgvs_c": "c.470A>G",
"hgvs_p": "p.Asn157Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523682.1",
"strand": true,
"transcript": "ENST00000853623.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 661,
"aa_ref": "N",
"aa_start": 157,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4159,
"cdna_start": 1135,
"cds_end": null,
"cds_length": 1986,
"cds_start": 470,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000853624.1",
"gene_hgnc_id": 13156,
"gene_symbol": "ZNF81",
"hgvs_c": "c.470A>G",
"hgvs_p": "p.Asn157Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523683.1",
"strand": true,
"transcript": "ENST00000853624.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 661,
"aa_ref": "N",
"aa_start": 157,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3773,
"cdna_start": 758,
"cds_end": null,
"cds_length": 1986,
"cds_start": 470,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000966374.1",
"gene_hgnc_id": 13156,
"gene_symbol": "ZNF81",
"hgvs_c": "c.470A>G",
"hgvs_p": "p.Asn157Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636433.1",
"strand": true,
"transcript": "ENST00000966374.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 130,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2369,
"cdna_start": null,
"cds_end": null,
"cds_length": 393,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001378154.1",
"gene_hgnc_id": 13156,
"gene_symbol": "ZNF81",
"hgvs_c": "c.278-8808A>G",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365083.1",
"strand": true,
"transcript": "NM_001378154.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 104,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1430,
"cdna_start": null,
"cds_end": null,
"cds_length": 315,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001378155.1",
"gene_hgnc_id": 13156,
"gene_symbol": "ZNF81",
"hgvs_c": "c.278-6192A>G",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365084.1",
"strand": true,
"transcript": "NM_001378155.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 102,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 492,
"cdna_start": null,
"cds_end": null,
"cds_length": 311,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000376950.4",
"gene_hgnc_id": 13156,
"gene_symbol": "ZNF81",
"hgvs_c": "c.277+19176A>G",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000366149.4",
"strand": true,
"transcript": "ENST00000376950.4",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs41312157",
"effect": "missense_variant",
"frequency_reference_population": 0.007315945,
"gene_hgnc_id": 13156,
"gene_symbol": "ZNF81",
"gnomad_exomes_ac": 8234,
"gnomad_exomes_af": 0.00753608,
"gnomad_exomes_homalt": 26,
"gnomad_genomes_ac": 576,
"gnomad_genomes_af": 0.00516092,
"gnomad_genomes_homalt": 2,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 2918,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"phenotype_combined": "not provided|not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": -0.507,
"pos": 47915116,
"ref": "A",
"revel_prediction": "Benign",
"revel_score": 0.017,
"splice_prediction_selected": "Uncertain_significance",
"splice_score_selected": 0.4099999964237213,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Uncertain_significance",
"spliceai_max_score": 0.41,
"transcript": "NM_007137.5"
}
]
}