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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: 19-53140666-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=53140666&ref=C&alt=A&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": "ZNF347",
"hgnc_id": 16447,
"hgvs_c": "c.2165G>T",
"hgvs_p": "p.Arg722Leu",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001172674.2",
"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": 0.2472,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.69,
"chr": "19",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.09741905331611633,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 839,
"aa_ref": "R",
"aa_start": 721,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7984,
"cdna_start": 2253,
"cds_end": null,
"cds_length": 2520,
"cds_start": 2162,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_032584.3",
"gene_hgnc_id": 16447,
"gene_symbol": "ZNF347",
"hgvs_c": "c.2162G>T",
"hgvs_p": "p.Arg721Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000334197.12",
"protein_coding": true,
"protein_id": "NP_115973.2",
"strand": false,
"transcript": "NM_032584.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 839,
"aa_ref": "R",
"aa_start": 721,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7984,
"cdna_start": 2253,
"cds_end": null,
"cds_length": 2520,
"cds_start": 2162,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000334197.12",
"gene_hgnc_id": 16447,
"gene_symbol": "ZNF347",
"hgvs_c": "c.2162G>T",
"hgvs_p": "p.Arg721Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_032584.3",
"protein_coding": true,
"protein_id": "ENSP00000334146.6",
"strand": false,
"transcript": "ENST00000334197.12",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 840,
"aa_ref": "R",
"aa_start": 722,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8316,
"cdna_start": 2585,
"cds_end": null,
"cds_length": 2523,
"cds_start": 2165,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001172674.2",
"gene_hgnc_id": 16447,
"gene_symbol": "ZNF347",
"hgvs_c": "c.2165G>T",
"hgvs_p": "p.Arg722Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001166145.1",
"strand": false,
"transcript": "NM_001172674.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 840,
"aa_ref": "R",
"aa_start": 722,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7987,
"cdna_start": 2256,
"cds_end": null,
"cds_length": 2523,
"cds_start": 2165,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001172675.2",
"gene_hgnc_id": 16447,
"gene_symbol": "ZNF347",
"hgvs_c": "c.2165G>T",
"hgvs_p": "p.Arg722Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001166146.1",
"strand": false,
"transcript": "NM_001172675.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 840,
"aa_ref": "R",
"aa_start": 722,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4553,
"cdna_start": 2592,
"cds_end": null,
"cds_length": 2523,
"cds_start": 2165,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000452676.6",
"gene_hgnc_id": 16447,
"gene_symbol": "ZNF347",
"hgvs_c": "c.2165G>T",
"hgvs_p": "p.Arg722Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000405218.2",
"strand": false,
"transcript": "ENST00000452676.6",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 840,
"aa_ref": "R",
"aa_start": 722,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2812,
"cdna_start": 2256,
"cds_end": null,
"cds_length": 2523,
"cds_start": 2165,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000601469.2",
"gene_hgnc_id": 16447,
"gene_symbol": "ZNF347",
"hgvs_c": "c.2165G>T",
"hgvs_p": "p.Arg722Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000471712.2",
"strand": false,
"transcript": "ENST00000601469.2",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 840,
"aa_ref": "R",
"aa_start": 722,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3053,
"cdna_start": 2288,
"cds_end": null,
"cds_length": 2523,
"cds_start": 2165,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000882590.1",
"gene_hgnc_id": 16447,
"gene_symbol": "ZNF347",
"hgvs_c": "c.2165G>T",
"hgvs_p": "p.Arg722Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552649.1",
"strand": false,
"transcript": "ENST00000882590.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 840,
"aa_ref": "R",
"aa_start": 722,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6725,
"cdna_start": 2443,
"cds_end": null,
"cds_length": 2523,
"cds_start": 2165,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000914572.1",
"gene_hgnc_id": 16447,
"gene_symbol": "ZNF347",
"hgvs_c": "c.2165G>T",
"hgvs_p": "p.Arg722Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584631.1",
"strand": false,
"transcript": "ENST00000914572.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 840,
"aa_ref": "R",
"aa_start": 722,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2995,
"cdna_start": 2247,
"cds_end": null,
"cds_length": 2523,
"cds_start": 2165,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000948849.1",
"gene_hgnc_id": 16447,
"gene_symbol": "ZNF347",
"hgvs_c": "c.2165G>T",
"hgvs_p": "p.Arg722Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618908.1",
"strand": false,
"transcript": "ENST00000948849.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 839,
"aa_ref": "R",
"aa_start": 721,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3163,
"cdna_start": 2398,
"cds_end": null,
"cds_length": 2520,
"cds_start": 2162,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000882585.1",
"gene_hgnc_id": 16447,
"gene_symbol": "ZNF347",
"hgvs_c": "c.2162G>T",
"hgvs_p": "p.Arg721Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552644.1",
"strand": false,
"transcript": "ENST00000882585.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 839,
"aa_ref": "R",
"aa_start": 721,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3347,
"cdna_start": 2582,
"cds_end": null,
"cds_length": 2520,
"cds_start": 2162,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000882586.1",
"gene_hgnc_id": 16447,
"gene_symbol": "ZNF347",
"hgvs_c": "c.2162G>T",
"hgvs_p": "p.Arg721Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552645.1",
"strand": false,
"transcript": "ENST00000882586.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 839,
"aa_ref": "R",
"aa_start": 721,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3014,
"cdna_start": 2249,
"cds_end": null,
"cds_length": 2520,
"cds_start": 2162,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000882587.1",
"gene_hgnc_id": 16447,
"gene_symbol": "ZNF347",
"hgvs_c": "c.2162G>T",
"hgvs_p": "p.Arg721Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552646.1",
"strand": false,
"transcript": "ENST00000882587.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 839,
"aa_ref": "R",
"aa_start": 721,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3028,
"cdna_start": 2263,
"cds_end": null,
"cds_length": 2520,
"cds_start": 2162,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000882588.1",
"gene_hgnc_id": 16447,
"gene_symbol": "ZNF347",
"hgvs_c": "c.2162G>T",
"hgvs_p": "p.Arg721Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552647.1",
"strand": false,
"transcript": "ENST00000882588.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 839,
"aa_ref": "R",
"aa_start": 721,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3645,
"cdna_start": 2880,
"cds_end": null,
"cds_length": 2520,
"cds_start": 2162,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000882589.1",
"gene_hgnc_id": 16447,
"gene_symbol": "ZNF347",
"hgvs_c": "c.2162G>T",
"hgvs_p": "p.Arg721Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552648.1",
"strand": false,
"transcript": "ENST00000882589.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 839,
"aa_ref": "R",
"aa_start": 721,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3756,
"cdna_start": 2328,
"cds_end": null,
"cds_length": 2520,
"cds_start": 2162,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000914574.1",
"gene_hgnc_id": 16447,
"gene_symbol": "ZNF347",
"hgvs_c": "c.2162G>T",
"hgvs_p": "p.Arg721Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584633.1",
"strand": false,
"transcript": "ENST00000914574.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 839,
"aa_ref": "R",
"aa_start": 721,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3552,
"cdna_start": 2808,
"cds_end": null,
"cds_length": 2520,
"cds_start": 2162,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000948850.1",
"gene_hgnc_id": 16447,
"gene_symbol": "ZNF347",
"hgvs_c": "c.2162G>T",
"hgvs_p": "p.Arg721Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618909.1",
"strand": false,
"transcript": "ENST00000948850.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 34,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 496,
"cdna_start": null,
"cds_end": null,
"cds_length": 105,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000601804.5",
"gene_hgnc_id": 16447,
"gene_symbol": "ZNF347",
"hgvs_c": "c.97+8015G>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000470590.1",
"strand": false,
"transcript": "ENST00000601804.5",
"transcript_support_level": 4
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs150489253",
"effect": "missense_variant",
"frequency_reference_population": 0.0000018718506,
"gene_hgnc_id": 16447,
"gene_symbol": "ZNF347",
"gnomad_exomes_ac": 2,
"gnomad_exomes_af": 0.00000137008,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 1,
"gnomad_genomes_af": 0.00000699673,
"gnomad_genomes_homalt": 0,
"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": -5.89,
"pos": 53140666,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.011,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001172674.2"
}
]
}