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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: 19-9341804-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=9341804&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": "ZNF559",
"hgnc_id": 28197,
"hgvs_c": "c.545C>A",
"hgvs_p": "p.Thr182Asn",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001202406.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ZNF559-ZNF177",
"hgnc_id": 42964,
"hgvs_c": "c.-249+620C>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001384659.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000283108",
"hgnc_id": null,
"hgvs_c": "n.864-16370G>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000773254.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 9,
"alphamissense_prediction": null,
"alphamissense_score": 0.1113,
"alt": "A",
"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": 0.08599862456321716,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 538,
"aa_ref": "T",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4675,
"cdna_start": 608,
"cds_end": null,
"cds_length": 1617,
"cds_start": 353,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_032497.3",
"gene_hgnc_id": 28197,
"gene_symbol": "ZNF559",
"hgvs_c": "c.353C>A",
"hgvs_p": "p.Thr118Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000603380.6",
"protein_coding": true,
"protein_id": "NP_115886.1",
"strand": true,
"transcript": "NM_032497.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 538,
"aa_ref": "T",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4675,
"cdna_start": 608,
"cds_end": null,
"cds_length": 1617,
"cds_start": 353,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000603380.6",
"gene_hgnc_id": 28197,
"gene_symbol": "ZNF559",
"hgvs_c": "c.353C>A",
"hgvs_p": "p.Thr118Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_032497.3",
"protein_coding": true,
"protein_id": "ENSP00000474760.1",
"strand": true,
"transcript": "ENST00000603380.6",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 112,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1488,
"cdna_start": null,
"cds_end": null,
"cds_length": 339,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000592896.5",
"gene_hgnc_id": 28197,
"gene_symbol": "ZNF559",
"hgvs_c": "c.*176C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000466496.2",
"strand": true,
"transcript": "ENST00000592896.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 84,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 967,
"cdna_start": null,
"cds_end": null,
"cds_length": 255,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000585352.5",
"gene_hgnc_id": 28197,
"gene_symbol": "ZNF559",
"hgvs_c": "c.*176C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000467048.1",
"strand": true,
"transcript": "ENST00000585352.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 321,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2435,
"cdna_start": null,
"cds_end": null,
"cds_length": 966,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000541595.6",
"gene_hgnc_id": 42964,
"gene_symbol": "ZNF559-ZNF177",
"hgvs_c": "c.-391+3222C>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000445323.1",
"strand": true,
"transcript": "ENST00000541595.6",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 149,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1016,
"cdna_start": null,
"cds_end": null,
"cds_length": 450,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000586255.5",
"gene_hgnc_id": 28197,
"gene_symbol": "ZNF559",
"hgvs_c": "c.327+620C>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000465787.2",
"strand": true,
"transcript": "ENST00000586255.5",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 602,
"aa_ref": "T",
"aa_start": 182,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2993,
"cdna_start": 952,
"cds_end": null,
"cds_length": 1809,
"cds_start": 545,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001202406.1",
"gene_hgnc_id": 28197,
"gene_symbol": "ZNF559",
"hgvs_c": "c.545C>A",
"hgvs_p": "p.Thr182Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001189335.1",
"strand": true,
"transcript": "NM_001202406.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 602,
"aa_ref": "T",
"aa_start": 182,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2991,
"cdna_start": 952,
"cds_end": null,
"cds_length": 1809,
"cds_start": 545,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000587557.5",
"gene_hgnc_id": 28197,
"gene_symbol": "ZNF559",
"hgvs_c": "c.545C>A",
"hgvs_p": "p.Thr182Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000468153.2",
"strand": true,
"transcript": "ENST00000587557.5",
"transcript_support_level": 2
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 538,
"aa_ref": "T",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5095,
"cdna_start": 1001,
"cds_end": null,
"cds_length": 1617,
"cds_start": 353,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000393883.6",
"gene_hgnc_id": 28197,
"gene_symbol": "ZNF559",
"hgvs_c": "c.353C>A",
"hgvs_p": "p.Thr118Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000377461.1",
"strand": true,
"transcript": "ENST00000393883.6",
"transcript_support_level": 2
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 538,
"aa_ref": "T",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4156,
"cdna_start": 1705,
"cds_end": null,
"cds_length": 1617,
"cds_start": 353,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000861660.1",
"gene_hgnc_id": 28197,
"gene_symbol": "ZNF559",
"hgvs_c": "c.353C>A",
"hgvs_p": "p.Thr118Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531719.1",
"strand": true,
"transcript": "ENST00000861660.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 538,
"aa_ref": "T",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3577,
"cdna_start": 1126,
"cds_end": null,
"cds_length": 1617,
"cds_start": 353,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000861661.1",
"gene_hgnc_id": 28197,
"gene_symbol": "ZNF559",
"hgvs_c": "c.353C>A",
"hgvs_p": "p.Thr118Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531720.1",
"strand": true,
"transcript": "ENST00000861661.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 538,
"aa_ref": "T",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3458,
"cdna_start": 773,
"cds_end": null,
"cds_length": 1617,
"cds_start": 353,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000861662.1",
"gene_hgnc_id": 28197,
"gene_symbol": "ZNF559",
"hgvs_c": "c.353C>A",
"hgvs_p": "p.Thr118Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531721.1",
"strand": true,
"transcript": "ENST00000861662.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 538,
"aa_ref": "T",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3211,
"cdna_start": 760,
"cds_end": null,
"cds_length": 1617,
"cds_start": 353,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000861663.1",
"gene_hgnc_id": 28197,
"gene_symbol": "ZNF559",
"hgvs_c": "c.353C>A",
"hgvs_p": "p.Thr118Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531722.1",
"strand": true,
"transcript": "ENST00000861663.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 538,
"aa_ref": "T",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2688,
"cdna_start": 650,
"cds_end": null,
"cds_length": 1617,
"cds_start": 353,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000861664.1",
"gene_hgnc_id": 28197,
"gene_symbol": "ZNF559",
"hgvs_c": "c.353C>A",
"hgvs_p": "p.Thr118Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531723.1",
"strand": true,
"transcript": "ENST00000861664.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 538,
"aa_ref": "T",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3145,
"cdna_start": 1108,
"cds_end": null,
"cds_length": 1617,
"cds_start": 353,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000861665.1",
"gene_hgnc_id": 28197,
"gene_symbol": "ZNF559",
"hgvs_c": "c.353C>A",
"hgvs_p": "p.Thr118Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531724.1",
"strand": true,
"transcript": "ENST00000861665.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 538,
"aa_ref": "T",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2895,
"cdna_start": 858,
"cds_end": null,
"cds_length": 1617,
"cds_start": 353,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000861666.1",
"gene_hgnc_id": 28197,
"gene_symbol": "ZNF559",
"hgvs_c": "c.353C>A",
"hgvs_p": "p.Thr118Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531725.1",
"strand": true,
"transcript": "ENST00000861666.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 538,
"aa_ref": "T",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3341,
"cdna_start": 1300,
"cds_end": null,
"cds_length": 1617,
"cds_start": 353,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000861667.1",
"gene_hgnc_id": 28197,
"gene_symbol": "ZNF559",
"hgvs_c": "c.353C>A",
"hgvs_p": "p.Thr118Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531726.1",
"strand": true,
"transcript": "ENST00000861667.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 538,
"aa_ref": "T",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2969,
"cdna_start": 931,
"cds_end": null,
"cds_length": 1617,
"cds_start": 353,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000861668.1",
"gene_hgnc_id": 28197,
"gene_symbol": "ZNF559",
"hgvs_c": "c.353C>A",
"hgvs_p": "p.Thr118Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531727.1",
"strand": true,
"transcript": "ENST00000861668.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 538,
"aa_ref": "T",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2846,
"cdna_start": 805,
"cds_end": null,
"cds_length": 1617,
"cds_start": 353,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000861669.1",
"gene_hgnc_id": 28197,
"gene_symbol": "ZNF559",
"hgvs_c": "c.353C>A",
"hgvs_p": "p.Thr118Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531728.1",
"strand": true,
"transcript": "ENST00000861669.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 538,
"aa_ref": "T",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3037,
"cdna_start": 999,
"cds_end": null,
"cds_length": 1617,
"cds_start": 353,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000861670.1",
"gene_hgnc_id": 28197,
"gene_symbol": "ZNF559",
"hgvs_c": "c.353C>A",
"hgvs_p": "p.Thr118Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
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