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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: 19-34943459-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=34943459&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ZNF30",
"hgnc_id": 13090,
"hgvs_c": "c.496A>G",
"hgvs_p": "p.Ile166Val",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_001099437.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 5,
"alphamissense_prediction": null,
"alphamissense_score": 0.0834,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.72,
"chr": "19",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.04740610718727112,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 623,
"aa_ref": "I",
"aa_start": 165,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2580,
"cdna_start": 871,
"cds_end": null,
"cds_length": 1872,
"cds_start": 493,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_194325.3",
"gene_hgnc_id": 13090,
"gene_symbol": "ZNF30",
"hgvs_c": "c.493A>G",
"hgvs_p": "p.Ile165Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000601142.2",
"protein_coding": true,
"protein_id": "NP_919306.2",
"strand": true,
"transcript": "NM_194325.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 623,
"aa_ref": "I",
"aa_start": 165,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2580,
"cdna_start": 871,
"cds_end": null,
"cds_length": 1872,
"cds_start": 493,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000601142.2",
"gene_hgnc_id": 13090,
"gene_symbol": "ZNF30",
"hgvs_c": "c.493A>G",
"hgvs_p": "p.Ile165Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_194325.3",
"protein_coding": true,
"protein_id": "ENSP00000469954.1",
"strand": true,
"transcript": "ENST00000601142.2",
"transcript_support_level": 2
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 624,
"aa_ref": "I",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2579,
"cdna_start": 874,
"cds_end": null,
"cds_length": 1875,
"cds_start": 496,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000303586.11",
"gene_hgnc_id": 13090,
"gene_symbol": "ZNF30",
"hgvs_c": "c.496A>G",
"hgvs_p": "p.Ile166Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000303889.7",
"strand": true,
"transcript": "ENST00000303586.11",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 624,
"aa_ref": "I",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2583,
"cdna_start": 874,
"cds_end": null,
"cds_length": 1875,
"cds_start": 496,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001099437.2",
"gene_hgnc_id": 13090,
"gene_symbol": "ZNF30",
"hgvs_c": "c.496A>G",
"hgvs_p": "p.Ile166Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001092907.1",
"strand": true,
"transcript": "NM_001099437.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 624,
"aa_ref": "I",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2649,
"cdna_start": 940,
"cds_end": null,
"cds_length": 1875,
"cds_start": 496,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001099438.2",
"gene_hgnc_id": 13090,
"gene_symbol": "ZNF30",
"hgvs_c": "c.496A>G",
"hgvs_p": "p.Ile166Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001092908.1",
"strand": true,
"transcript": "NM_001099438.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 624,
"aa_ref": "I",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2651,
"cdna_start": 940,
"cds_end": null,
"cds_length": 1875,
"cds_start": 496,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000439785.5",
"gene_hgnc_id": 13090,
"gene_symbol": "ZNF30",
"hgvs_c": "c.496A>G",
"hgvs_p": "p.Ile166Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000403441.1",
"strand": true,
"transcript": "ENST00000439785.5",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 623,
"aa_ref": "I",
"aa_start": 165,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2593,
"cdna_start": 888,
"cds_end": null,
"cds_length": 1872,
"cds_start": 493,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000891913.1",
"gene_hgnc_id": 13090,
"gene_symbol": "ZNF30",
"hgvs_c": "c.493A>G",
"hgvs_p": "p.Ile165Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561972.1",
"strand": true,
"transcript": "ENST00000891913.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 623,
"aa_ref": "I",
"aa_start": 165,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2421,
"cdna_start": 708,
"cds_end": null,
"cds_length": 1872,
"cds_start": 493,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000932306.1",
"gene_hgnc_id": 13090,
"gene_symbol": "ZNF30",
"hgvs_c": "c.493A>G",
"hgvs_p": "p.Ile165Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602365.1",
"strand": true,
"transcript": "ENST00000932306.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 623,
"aa_ref": "I",
"aa_start": 165,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5260,
"cdna_start": 3554,
"cds_end": null,
"cds_length": 1872,
"cds_start": 493,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000957110.1",
"gene_hgnc_id": 13090,
"gene_symbol": "ZNF30",
"hgvs_c": "c.493A>G",
"hgvs_p": "p.Ile165Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627169.1",
"strand": true,
"transcript": "ENST00000957110.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 623,
"aa_ref": "I",
"aa_start": 165,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2341,
"cdna_start": 635,
"cds_end": null,
"cds_length": 1872,
"cds_start": 493,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000957111.1",
"gene_hgnc_id": 13090,
"gene_symbol": "ZNF30",
"hgvs_c": "c.493A>G",
"hgvs_p": "p.Ile165Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627170.1",
"strand": true,
"transcript": "ENST00000957111.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 618,
"aa_ref": "I",
"aa_start": 160,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2483,
"cdna_start": 774,
"cds_end": null,
"cds_length": 1857,
"cds_start": 478,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000891914.1",
"gene_hgnc_id": 13090,
"gene_symbol": "ZNF30",
"hgvs_c": "c.478A>G",
"hgvs_p": "p.Ile160Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561973.1",
"strand": true,
"transcript": "ENST00000891914.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 601,
"aa_ref": "I",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2503,
"cdna_start": 794,
"cds_end": null,
"cds_length": 1806,
"cds_start": 427,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000932307.1",
"gene_hgnc_id": 13090,
"gene_symbol": "ZNF30",
"hgvs_c": "c.427A>G",
"hgvs_p": "p.Ile143Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602366.1",
"strand": true,
"transcript": "ENST00000932307.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 624,
"aa_ref": "I",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3086,
"cdna_start": 1377,
"cds_end": null,
"cds_length": 1875,
"cds_start": 496,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_011527443.3",
"gene_hgnc_id": 13090,
"gene_symbol": "ZNF30",
"hgvs_c": "c.496A>G",
"hgvs_p": "p.Ile166Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011525745.1",
"strand": true,
"transcript": "XM_011527443.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 624,
"aa_ref": "I",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2288,
"cdna_start": 579,
"cds_end": null,
"cds_length": 1875,
"cds_start": 496,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_011527444.2",
"gene_hgnc_id": 13090,
"gene_symbol": "ZNF30",
"hgvs_c": "c.496A>G",
"hgvs_p": "p.Ile166Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011525746.1",
"strand": true,
"transcript": "XM_011527444.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 624,
"aa_ref": "I",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2288,
"cdna_start": 579,
"cds_end": null,
"cds_length": 1875,
"cds_start": 496,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_017027424.2",
"gene_hgnc_id": 13090,
"gene_symbol": "ZNF30",
"hgvs_c": "c.496A>G",
"hgvs_p": "p.Ile166Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016882913.1",
"strand": true,
"transcript": "XM_017027424.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 623,
"aa_ref": "I",
"aa_start": 165,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2646,
"cdna_start": 937,
"cds_end": null,
"cds_length": 1872,
"cds_start": 493,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_017027425.2",
"gene_hgnc_id": 13090,
"gene_symbol": "ZNF30",
"hgvs_c": "c.493A>G",
"hgvs_p": "p.Ile165Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016882914.1",
"strand": true,
"transcript": "XM_017027425.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 623,
"aa_ref": "I",
"aa_start": 165,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3083,
"cdna_start": 1374,
"cds_end": null,
"cds_length": 1872,
"cds_start": 493,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_017027426.2",
"gene_hgnc_id": 13090,
"gene_symbol": "ZNF30",
"hgvs_c": "c.493A>G",
"hgvs_p": "p.Ile165Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016882915.1",
"strand": true,
"transcript": "XM_017027426.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 542,
"aa_ref": "I",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2126,
"cdna_start": 417,
"cds_end": null,
"cds_length": 1629,
"cds_start": 250,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047439607.1",
"gene_hgnc_id": 13090,
"gene_symbol": "ZNF30",
"hgvs_c": "c.250A>G",
"hgvs_p": "p.Ile84Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047295563.1",
"strand": true,
"transcript": "XM_047439607.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 86,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2583,
"cdna_start": null,
"cds_end": null,
"cds_length": 261,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000601957.5",
"gene_hgnc_id": 13090,
"gene_symbol": "ZNF30",
"hgvs_c": "c.*312A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000470094.1",
"strand": true,
"transcript": "ENST00000601957.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2660,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NR_024018.2",
"gene_hgnc_id": 13090,
"gene_symbol": "ZNF30",
"hgvs_c": "n.951A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_024018.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 317,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000595818.1",
"gene_hgnc_id": 13090,
"gene_symbol": "ZNF30",
"hgvs_c": "n.*33A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000595818.1",
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