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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: 19-37347191-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=37347191&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant",
"splice_region_variant"
],
"gene_symbol": "ZNF875",
"hgnc_id": 4928,
"hgvs_c": "c.92C>T",
"hgvs_p": "p.Ala31Val",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_181786.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 8,
"alphamissense_prediction": null,
"alphamissense_score": 0.151,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.75,
"chr": "19",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.2371235191822052,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 640,
"aa_ref": "A",
"aa_start": 12,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2785,
"cdna_start": 225,
"cds_end": null,
"cds_length": 1923,
"cds_start": 35,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001353803.2",
"gene_hgnc_id": 4928,
"gene_symbol": "ZNF875",
"hgvs_c": "c.35C>T",
"hgvs_p": "p.Ala12Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000392153.8",
"protein_coding": true,
"protein_id": "NP_001340732.1",
"strand": true,
"transcript": "NM_001353803.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 640,
"aa_ref": "A",
"aa_start": 12,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2785,
"cdna_start": 225,
"cds_end": null,
"cds_length": 1923,
"cds_start": 35,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000392153.8",
"gene_hgnc_id": 4928,
"gene_symbol": "ZNF875",
"hgvs_c": "c.35C>T",
"hgvs_p": "p.Ala12Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001353803.2",
"protein_coding": true,
"protein_id": "ENSP00000375994.3",
"strand": true,
"transcript": "ENST00000392153.8",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 659,
"aa_ref": "A",
"aa_start": 31,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2929,
"cdna_start": 361,
"cds_end": null,
"cds_length": 1980,
"cds_start": 92,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000324411.8",
"gene_hgnc_id": 4928,
"gene_symbol": "ZNF875",
"hgvs_c": "c.92C>T",
"hgvs_p": "p.Ala31Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000315505.3",
"strand": true,
"transcript": "ENST00000324411.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 598,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2758,
"cdna_start": null,
"cds_end": null,
"cds_length": 1797,
"cds_start": null,
"consequences": [
"splice_region_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000541583.6",
"gene_hgnc_id": 4928,
"gene_symbol": "ZNF875",
"hgvs_c": "c.-92C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000438261.1",
"strand": true,
"transcript": "ENST00000541583.6",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 171,
"aa_ref": "A",
"aa_start": 12,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 734,
"cdna_start": 162,
"cds_end": null,
"cds_length": 516,
"cds_start": 35,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000591259.5",
"gene_hgnc_id": 4928,
"gene_symbol": "ZNF875",
"hgvs_c": "c.35C>T",
"hgvs_p": "p.Ala12Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000466472.1",
"strand": true,
"transcript": "ENST00000591259.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 598,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2758,
"cdna_start": null,
"cds_end": null,
"cds_length": 1797,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000541583.6",
"gene_hgnc_id": 4928,
"gene_symbol": "ZNF875",
"hgvs_c": "c.-92C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000438261.1",
"strand": true,
"transcript": "ENST00000541583.6",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 659,
"aa_ref": "A",
"aa_start": 31,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2950,
"cdna_start": 390,
"cds_end": null,
"cds_length": 1980,
"cds_start": 92,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_181786.4",
"gene_hgnc_id": 4928,
"gene_symbol": "ZNF875",
"hgvs_c": "c.92C>T",
"hgvs_p": "p.Ala31Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_861451.1",
"strand": true,
"transcript": "NM_181786.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 641,
"aa_ref": "A",
"aa_start": 12,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2757,
"cdna_start": 194,
"cds_end": null,
"cds_length": 1926,
"cds_start": 35,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001329761.2",
"gene_hgnc_id": 4928,
"gene_symbol": "ZNF875",
"hgvs_c": "c.35C>T",
"hgvs_p": "p.Ala12Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001316690.1",
"strand": true,
"transcript": "NM_001329761.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 641,
"aa_ref": "A",
"aa_start": 12,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2788,
"cdna_start": 225,
"cds_end": null,
"cds_length": 1926,
"cds_start": 35,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001329762.2",
"gene_hgnc_id": 4928,
"gene_symbol": "ZNF875",
"hgvs_c": "c.35C>T",
"hgvs_p": "p.Ala12Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001316691.1",
"strand": true,
"transcript": "NM_001329762.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 641,
"aa_ref": "A",
"aa_start": 12,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2152,
"cdna_start": 172,
"cds_end": null,
"cds_length": 1926,
"cds_start": 35,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000589392.5",
"gene_hgnc_id": 4928,
"gene_symbol": "ZNF875",
"hgvs_c": "c.35C>T",
"hgvs_p": "p.Ala12Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000467562.1",
"strand": true,
"transcript": "ENST00000589392.5",
"transcript_support_level": 2
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 641,
"aa_ref": "A",
"aa_start": 12,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2800,
"cdna_start": 229,
"cds_end": null,
"cds_length": 1926,
"cds_start": 35,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000862311.1",
"gene_hgnc_id": 4928,
"gene_symbol": "ZNF875",
"hgvs_c": "c.35C>T",
"hgvs_p": "p.Ala12Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532370.1",
"strand": true,
"transcript": "ENST00000862311.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 641,
"aa_ref": "A",
"aa_start": 12,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3164,
"cdna_start": 593,
"cds_end": null,
"cds_length": 1926,
"cds_start": 35,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000862315.1",
"gene_hgnc_id": 4928,
"gene_symbol": "ZNF875",
"hgvs_c": "c.35C>T",
"hgvs_p": "p.Ala12Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532374.1",
"strand": true,
"transcript": "ENST00000862315.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 641,
"aa_ref": "A",
"aa_start": 12,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2822,
"cdna_start": 254,
"cds_end": null,
"cds_length": 1926,
"cds_start": 35,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000970698.1",
"gene_hgnc_id": 4928,
"gene_symbol": "ZNF875",
"hgvs_c": "c.35C>T",
"hgvs_p": "p.Ala12Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640757.1",
"strand": true,
"transcript": "ENST00000970698.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 640,
"aa_ref": "A",
"aa_start": 12,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3087,
"cdna_start": 527,
"cds_end": null,
"cds_length": 1923,
"cds_start": 35,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001329763.2",
"gene_hgnc_id": 4928,
"gene_symbol": "ZNF875",
"hgvs_c": "c.35C>T",
"hgvs_p": "p.Ala12Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001316692.1",
"strand": true,
"transcript": "NM_001329763.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 640,
"aa_ref": "A",
"aa_start": 12,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2754,
"cdna_start": 194,
"cds_end": null,
"cds_length": 1923,
"cds_start": 35,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001329764.2",
"gene_hgnc_id": 4928,
"gene_symbol": "ZNF875",
"hgvs_c": "c.35C>T",
"hgvs_p": "p.Ala12Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001316693.1",
"strand": true,
"transcript": "NM_001329764.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 640,
"aa_ref": "A",
"aa_start": 12,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2808,
"cdna_start": 248,
"cds_end": null,
"cds_length": 1923,
"cds_start": 35,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000862310.1",
"gene_hgnc_id": 4928,
"gene_symbol": "ZNF875",
"hgvs_c": "c.35C>T",
"hgvs_p": "p.Ala12Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532369.1",
"strand": true,
"transcript": "ENST00000862310.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 640,
"aa_ref": "A",
"aa_start": 12,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3182,
"cdna_start": 614,
"cds_end": null,
"cds_length": 1923,
"cds_start": 35,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000862312.1",
"gene_hgnc_id": 4928,
"gene_symbol": "ZNF875",
"hgvs_c": "c.35C>T",
"hgvs_p": "p.Ala12Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532371.1",
"strand": true,
"transcript": "ENST00000862312.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 640,
"aa_ref": "A",
"aa_start": 12,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2722,
"cdna_start": 154,
"cds_end": null,
"cds_length": 1923,
"cds_start": 35,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000862313.1",
"gene_hgnc_id": 4928,
"gene_symbol": "ZNF875",
"hgvs_c": "c.35C>T",
"hgvs_p": "p.Ala12Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532372.1",
"strand": true,
"transcript": "ENST00000862313.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 640,
"aa_ref": "A",
"aa_start": 12,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2752,
"cdna_start": 194,
"cds_end": null,
"cds_length": 1923,
"cds_start": 35,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000862314.1",
"gene_hgnc_id": 4928,
"gene_symbol": "ZNF875",
"hgvs_c": "c.35C>T",
"hgvs_p": "p.Ala12Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532373.1",
"strand": true,
"transcript": "ENST00000862314.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 640,
"aa_ref": "A",
"aa_start": 12,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3092,
"cdna_start": 534,
"cds_end": null,
"cds_length": 1923,
"cds_start": 35,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000911520.1",
"gene_hgnc_id": 4928,
"gene_symbol": "ZNF875",
"hgvs_c": "c.35C>T",
"hgvs_p": "p.Ala12Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581579.1",
"strand": true,
"transcript": "ENST00000911520.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 640,
"aa_ref": "A",
"aa_start": 12,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3156,
"cdna_start": 590,
"cds_end": null,
"cds_length": 1923,
"cds_start": 35,
"consequences": [
"missense_variant",
"splice_region_variant"
],
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