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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: 12-6668060-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=6668060&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 6668060,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001385743.1",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF384",
"gene_hgnc_id": 11955,
"hgvs_c": "c.1481A>G",
"hgvs_p": "p.Gln494Arg",
"transcript": "NM_001385745.1",
"protein_id": "NP_001372674.1",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 608,
"cds_start": 1481,
"cds_end": null,
"cds_length": 1827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000683879.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385745.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF384",
"gene_hgnc_id": 11955,
"hgvs_c": "c.1481A>G",
"hgvs_p": "p.Gln494Arg",
"transcript": "ENST00000683879.1",
"protein_id": "ENSP00000507462.1",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 608,
"cds_start": 1481,
"cds_end": null,
"cds_length": 1827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001385745.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683879.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF384",
"gene_hgnc_id": 11955,
"hgvs_c": "c.1040A>G",
"hgvs_p": "p.Gln347Arg",
"transcript": "ENST00000355772.8",
"protein_id": "ENSP00000348018.4",
"transcript_support_level": 1,
"aa_start": 347,
"aa_end": null,
"aa_length": 461,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355772.8"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF384",
"gene_hgnc_id": 11955,
"hgvs_c": "c.1532A>G",
"hgvs_p": "p.Gln511Arg",
"transcript": "ENST00000710399.1",
"protein_id": "ENSP00000518253.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 625,
"cds_start": 1532,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000710399.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF384",
"gene_hgnc_id": 11955,
"hgvs_c": "c.1481A>G",
"hgvs_p": "p.Gln494Arg",
"transcript": "NM_001385743.1",
"protein_id": "NP_001372672.1",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 608,
"cds_start": 1481,
"cds_end": null,
"cds_length": 1827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385743.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF384",
"gene_hgnc_id": 11955,
"hgvs_c": "c.1481A>G",
"hgvs_p": "p.Gln494Arg",
"transcript": "NM_001385744.1",
"protein_id": "NP_001372673.1",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 608,
"cds_start": 1481,
"cds_end": null,
"cds_length": 1827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385744.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF384",
"gene_hgnc_id": 11955,
"hgvs_c": "c.1481A>G",
"hgvs_p": "p.Gln494Arg",
"transcript": "NM_001385746.1",
"protein_id": "NP_001372675.1",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 608,
"cds_start": 1481,
"cds_end": null,
"cds_length": 1827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385746.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF384",
"gene_hgnc_id": 11955,
"hgvs_c": "c.1481A>G",
"hgvs_p": "p.Gln494Arg",
"transcript": "NM_001385747.1",
"protein_id": "NP_001372676.1",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 608,
"cds_start": 1481,
"cds_end": null,
"cds_length": 1827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385747.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF384",
"gene_hgnc_id": 11955,
"hgvs_c": "c.1433A>G",
"hgvs_p": "p.Gln478Arg",
"transcript": "NM_001385748.1",
"protein_id": "NP_001372677.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 592,
"cds_start": 1433,
"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_001385748.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF384",
"gene_hgnc_id": 11955,
"hgvs_c": "c.1433A>G",
"hgvs_p": "p.Gln478Arg",
"transcript": "NM_001385749.1",
"protein_id": "NP_001372678.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 592,
"cds_start": 1433,
"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_001385749.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF384",
"gene_hgnc_id": 11955,
"hgvs_c": "c.1388A>G",
"hgvs_p": "p.Gln463Arg",
"transcript": "NM_001135734.3",
"protein_id": "NP_001129206.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 577,
"cds_start": 1388,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001135734.3"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF384",
"gene_hgnc_id": 11955,
"hgvs_c": "c.1388A>G",
"hgvs_p": "p.Gln463Arg",
"transcript": "NM_001385750.1",
"protein_id": "NP_001372679.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 577,
"cds_start": 1388,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385750.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF384",
"gene_hgnc_id": 11955,
"hgvs_c": "c.1388A>G",
"hgvs_p": "p.Gln463Arg",
"transcript": "NM_001385751.1",
"protein_id": "NP_001372680.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 577,
"cds_start": 1388,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385751.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF384",
"gene_hgnc_id": 11955,
"hgvs_c": "c.1388A>G",
"hgvs_p": "p.Gln463Arg",
"transcript": "NM_001385752.1",
"protein_id": "NP_001372681.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 577,
"cds_start": 1388,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385752.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF384",
"gene_hgnc_id": 11955,
"hgvs_c": "c.1388A>G",
"hgvs_p": "p.Gln463Arg",
"transcript": "NM_001385753.1",
"protein_id": "NP_001372682.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 577,
"cds_start": 1388,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385753.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF384",
"gene_hgnc_id": 11955,
"hgvs_c": "c.1388A>G",
"hgvs_p": "p.Gln463Arg",
"transcript": "NM_001385754.1",
"protein_id": "NP_001372683.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 577,
"cds_start": 1388,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385754.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF384",
"gene_hgnc_id": 11955,
"hgvs_c": "c.1388A>G",
"hgvs_p": "p.Gln463Arg",
"transcript": "NM_001385755.1",
"protein_id": "NP_001372684.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 577,
"cds_start": 1388,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385755.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF384",
"gene_hgnc_id": 11955,
"hgvs_c": "c.1388A>G",
"hgvs_p": "p.Gln463Arg",
"transcript": "NM_001385756.1",
"protein_id": "NP_001372685.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 577,
"cds_start": 1388,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385756.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF384",
"gene_hgnc_id": 11955,
"hgvs_c": "c.1388A>G",
"hgvs_p": "p.Gln463Arg",
"transcript": "NM_001385757.1",
"protein_id": "NP_001372686.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 577,
"cds_start": 1388,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385757.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF384",
"gene_hgnc_id": 11955,
"hgvs_c": "c.1388A>G",
"hgvs_p": "p.Gln463Arg",
"transcript": "ENST00000361959.7",
"protein_id": "ENSP00000354592.3",
"transcript_support_level": 5,
"aa_start": 463,
"aa_end": null,
"aa_length": 577,
"cds_start": 1388,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361959.7"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF384",
"gene_hgnc_id": 11955,
"hgvs_c": "c.1388A>G",
"hgvs_p": "p.Gln463Arg",
"transcript": "ENST00000396801.7",
"protein_id": "ENSP00000380019.3",
"transcript_support_level": 2,
"aa_start": 463,
"aa_end": null,
"aa_length": 577,
"cds_start": 1388,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396801.7"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF384",
"gene_hgnc_id": 11955,
"hgvs_c": "c.1340A>G",
"hgvs_p": "p.Gln447Arg",
"transcript": "NM_001385758.1",
"protein_id": "NP_001372687.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 561,
"cds_start": 1340,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"feature": "NR_169762.1"
}
],
"gene_symbol": "ZNF384",
"gene_hgnc_id": 11955,
"dbsnp": "rs1210244201",
"frequency_reference_population": 0.000004961591,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000410918,
"gnomad_genomes_af": 0.0000131372,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.22024911642074585,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.142,
"revel_prediction": "Benign",
"alphamissense_score": 0.4333,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.33,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.763,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001385743.1",
"gene_symbol": "ZNF384",
"hgnc_id": 11955,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1481A>G",
"hgvs_p": "p.Gln494Arg"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000586338.2",
"gene_symbol": "ENSG00000219410",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.671T>C",
"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
}