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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: 11-6999972-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=6999972&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 6999972,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001354830.2",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF214",
"gene_hgnc_id": 13006,
"hgvs_c": "c.1711A>C",
"hgvs_p": "p.Ile571Leu",
"transcript": "NM_013249.4",
"protein_id": "NP_037381.2",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 606,
"cds_start": 1711,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000278314.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013249.4"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF214",
"gene_hgnc_id": 13006,
"hgvs_c": "c.1711A>C",
"hgvs_p": "p.Ile571Leu",
"transcript": "ENST00000278314.5",
"protein_id": "ENSP00000278314.4",
"transcript_support_level": 1,
"aa_start": 571,
"aa_end": null,
"aa_length": 606,
"cds_start": 1711,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_013249.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000278314.5"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF214",
"gene_hgnc_id": 13006,
"hgvs_c": "c.1711A>C",
"hgvs_p": "p.Ile571Leu",
"transcript": "ENST00000536068.5",
"protein_id": "ENSP00000445373.1",
"transcript_support_level": 1,
"aa_start": 571,
"aa_end": null,
"aa_length": 606,
"cds_start": 1711,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000536068.5"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF214",
"gene_hgnc_id": 13006,
"hgvs_c": "c.1744A>C",
"hgvs_p": "p.Ile582Leu",
"transcript": "NM_001354830.2",
"protein_id": "NP_001341759.1",
"transcript_support_level": null,
"aa_start": 582,
"aa_end": null,
"aa_length": 617,
"cds_start": 1744,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354830.2"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF214",
"gene_hgnc_id": 13006,
"hgvs_c": "c.1711A>C",
"hgvs_p": "p.Ile571Leu",
"transcript": "NM_001354831.2",
"protein_id": "NP_001341760.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 606,
"cds_start": 1711,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354831.2"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF214",
"gene_hgnc_id": 13006,
"hgvs_c": "c.1711A>C",
"hgvs_p": "p.Ile571Leu",
"transcript": "NM_001354832.2",
"protein_id": "NP_001341761.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 606,
"cds_start": 1711,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354832.2"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF214",
"gene_hgnc_id": 13006,
"hgvs_c": "c.1711A>C",
"hgvs_p": "p.Ile571Leu",
"transcript": "ENST00000888786.1",
"protein_id": "ENSP00000558845.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 606,
"cds_start": 1711,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888786.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF214",
"gene_hgnc_id": 13006,
"hgvs_c": "c.1711A>C",
"hgvs_p": "p.Ile571Leu",
"transcript": "ENST00000888787.1",
"protein_id": "ENSP00000558846.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 606,
"cds_start": 1711,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888787.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF214",
"gene_hgnc_id": 13006,
"hgvs_c": "c.1711A>C",
"hgvs_p": "p.Ile571Leu",
"transcript": "ENST00000888788.1",
"protein_id": "ENSP00000558847.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 606,
"cds_start": 1711,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888788.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF214",
"gene_hgnc_id": 13006,
"hgvs_c": "c.1711A>C",
"hgvs_p": "p.Ile571Leu",
"transcript": "ENST00000888789.1",
"protein_id": "ENSP00000558848.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 606,
"cds_start": 1711,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888789.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF214",
"gene_hgnc_id": 13006,
"hgvs_c": "c.1669A>C",
"hgvs_p": "p.Ile557Leu",
"transcript": "NM_001354833.2",
"protein_id": "NP_001341762.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 592,
"cds_start": 1669,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354833.2"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF214",
"gene_hgnc_id": 13006,
"hgvs_c": "c.1711A>C",
"hgvs_p": "p.Ile571Leu",
"transcript": "XM_047427565.1",
"protein_id": "XP_047283521.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 606,
"cds_start": 1711,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427565.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF214",
"gene_hgnc_id": 13006,
"hgvs_c": "c.1669A>C",
"hgvs_p": "p.Ile557Leu",
"transcript": "XM_006718309.5",
"protein_id": "XP_006718372.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 592,
"cds_start": 1669,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006718309.5"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF214",
"gene_hgnc_id": 13006,
"hgvs_c": "c.1669A>C",
"hgvs_p": "p.Ile557Leu",
"transcript": "XM_011520357.4",
"protein_id": "XP_011518659.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 592,
"cds_start": 1669,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011520357.4"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF214",
"gene_hgnc_id": 13006,
"hgvs_c": "c.1669A>C",
"hgvs_p": "p.Ile557Leu",
"transcript": "XM_017018269.3",
"protein_id": "XP_016873758.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 592,
"cds_start": 1669,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017018269.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ZNF215",
"gene_hgnc_id": 13007,
"hgvs_c": "n.*193-137T>G",
"hgvs_p": null,
"transcript": "ENST00000636606.1",
"protein_id": "ENSP00000490359.1",
"transcript_support_level": 5,
"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": "nonsense_mediated_decay",
"feature": "ENST00000636606.1"
}
],
"gene_symbol": "ZNF214",
"gene_hgnc_id": 13006,
"dbsnp": "rs528803707",
"frequency_reference_population": 0.00001115767,
"hom_count_reference_population": 0,
"allele_count_reference_population": 18,
"gnomad_exomes_af": 0.00000821272,
"gnomad_genomes_af": 0.0000394498,
"gnomad_exomes_ac": 12,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.049050986766815186,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.06,
"revel_prediction": "Benign",
"alphamissense_score": 0.4772,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.62,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.064,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001354830.2",
"gene_symbol": "ZNF214",
"hgnc_id": 13006,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1744A>C",
"hgvs_p": "p.Ile582Leu"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000636606.1",
"gene_symbol": "ZNF215",
"hgnc_id": 13007,
"effects": [
"intron_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "n.*193-137T>G",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}