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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: 6-28276780-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=28276780&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": "ZSCAN26",
"hgnc_id": 12978,
"hgvs_c": "c.1124C>A",
"hgvs_p": "p.Thr375Asn",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001023560.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000276302",
"hgnc_id": null,
"hgvs_c": "c.133+3993C>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000621053.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.1556,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.11,
"chr": "6",
"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": 0.11324921250343323,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 479,
"aa_ref": "T",
"aa_start": 375,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2685,
"cdna_start": 1261,
"cds_end": null,
"cds_length": 1440,
"cds_start": 1124,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001023560.4",
"gene_hgnc_id": 12978,
"gene_symbol": "ZSCAN26",
"hgvs_c": "c.1124C>A",
"hgvs_p": "p.Thr375Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000421553.7",
"protein_coding": true,
"protein_id": "NP_001018854.2",
"strand": true,
"transcript": "NM_001023560.4",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 479,
"aa_ref": "T",
"aa_start": 375,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2685,
"cdna_start": 1261,
"cds_end": null,
"cds_length": 1440,
"cds_start": 1124,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000421553.7",
"gene_hgnc_id": 12978,
"gene_symbol": "ZSCAN26",
"hgvs_c": "c.1124C>A",
"hgvs_p": "p.Thr375Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001023560.4",
"protein_coding": true,
"protein_id": "ENSP00000481707.1",
"strand": true,
"transcript": "ENST00000421553.7",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 344,
"aa_ref": "T",
"aa_start": 240,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2362,
"cdna_start": 941,
"cds_end": null,
"cds_length": 1035,
"cds_start": 719,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000316606.10",
"gene_hgnc_id": 12978,
"gene_symbol": "ZSCAN26",
"hgvs_c": "c.719C>A",
"hgvs_p": "p.Thr240Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000484931.1",
"strand": true,
"transcript": "ENST00000316606.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 84,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 557,
"cdna_start": null,
"cds_end": null,
"cds_length": 255,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000621053.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000276302",
"hgvs_c": "c.133+3993C>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000481142.1",
"strand": true,
"transcript": "ENST00000621053.1",
"transcript_support_level": 4
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 479,
"aa_ref": "T",
"aa_start": 375,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2729,
"cdna_start": 1285,
"cds_end": null,
"cds_length": 1440,
"cds_start": 1124,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000619937.4",
"gene_hgnc_id": 12978,
"gene_symbol": "ZSCAN26",
"hgvs_c": "c.1124C>A",
"hgvs_p": "p.Thr375Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000484018.1",
"strand": true,
"transcript": "ENST00000619937.4",
"transcript_support_level": 2
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 479,
"aa_ref": "T",
"aa_start": 375,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1996,
"cdna_start": 1246,
"cds_end": null,
"cds_length": 1440,
"cds_start": 1124,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000854330.1",
"gene_hgnc_id": 12978,
"gene_symbol": "ZSCAN26",
"hgvs_c": "c.1124C>A",
"hgvs_p": "p.Thr375Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524389.1",
"strand": true,
"transcript": "ENST00000854330.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 479,
"aa_ref": "T",
"aa_start": 375,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2785,
"cdna_start": 1361,
"cds_end": null,
"cds_length": 1440,
"cds_start": 1124,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000934902.1",
"gene_hgnc_id": 12978,
"gene_symbol": "ZSCAN26",
"hgvs_c": "c.1124C>A",
"hgvs_p": "p.Thr375Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604961.1",
"strand": true,
"transcript": "ENST00000934902.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 479,
"aa_ref": "T",
"aa_start": 375,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3137,
"cdna_start": 1720,
"cds_end": null,
"cds_length": 1440,
"cds_start": 1124,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000951043.1",
"gene_hgnc_id": 12978,
"gene_symbol": "ZSCAN26",
"hgvs_c": "c.1124C>A",
"hgvs_p": "p.Thr375Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621102.1",
"strand": true,
"transcript": "ENST00000951043.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 479,
"aa_ref": "T",
"aa_start": 375,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2766,
"cdna_start": 1349,
"cds_end": null,
"cds_length": 1440,
"cds_start": 1124,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000951044.1",
"gene_hgnc_id": 12978,
"gene_symbol": "ZSCAN26",
"hgvs_c": "c.1124C>A",
"hgvs_p": "p.Thr375Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621103.1",
"strand": true,
"transcript": "ENST00000951044.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 479,
"aa_ref": "T",
"aa_start": 375,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6917,
"cdna_start": 5680,
"cds_end": null,
"cds_length": 1440,
"cds_start": 1124,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000951045.1",
"gene_hgnc_id": 12978,
"gene_symbol": "ZSCAN26",
"hgvs_c": "c.1124C>A",
"hgvs_p": "p.Thr375Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621104.1",
"strand": true,
"transcript": "ENST00000951045.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 479,
"aa_ref": "T",
"aa_start": 375,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2238,
"cdna_start": 1492,
"cds_end": null,
"cds_length": 1440,
"cds_start": 1124,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000951046.1",
"gene_hgnc_id": 12978,
"gene_symbol": "ZSCAN26",
"hgvs_c": "c.1124C>A",
"hgvs_p": "p.Thr375Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621105.1",
"strand": true,
"transcript": "ENST00000951046.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 478,
"aa_ref": "T",
"aa_start": 374,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2682,
"cdna_start": 1258,
"cds_end": null,
"cds_length": 1437,
"cds_start": 1121,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001111039.3",
"gene_hgnc_id": 12978,
"gene_symbol": "ZSCAN26",
"hgvs_c": "c.1121C>A",
"hgvs_p": "p.Thr374Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001104509.1",
"strand": true,
"transcript": "NM_001111039.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 478,
"aa_ref": "T",
"aa_start": 374,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1998,
"cdna_start": 1248,
"cds_end": null,
"cds_length": 1437,
"cds_start": 1121,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000623276.3",
"gene_hgnc_id": 12978,
"gene_symbol": "ZSCAN26",
"hgvs_c": "c.1121C>A",
"hgvs_p": "p.Thr374Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000485228.1",
"strand": true,
"transcript": "ENST00000623276.3",
"transcript_support_level": 3
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 478,
"aa_ref": "T",
"aa_start": 374,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2918,
"cdna_start": 1474,
"cds_end": null,
"cds_length": 1437,
"cds_start": 1121,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000854327.1",
"gene_hgnc_id": 12978,
"gene_symbol": "ZSCAN26",
"hgvs_c": "c.1121C>A",
"hgvs_p": "p.Thr374Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524386.1",
"strand": true,
"transcript": "ENST00000854327.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 478,
"aa_ref": "T",
"aa_start": 374,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2045,
"cdna_start": 1298,
"cds_end": null,
"cds_length": 1437,
"cds_start": 1121,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000951047.1",
"gene_hgnc_id": 12978,
"gene_symbol": "ZSCAN26",
"hgvs_c": "c.1121C>A",
"hgvs_p": "p.Thr374Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621106.1",
"strand": true,
"transcript": "ENST00000951047.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 344,
"aa_ref": "T",
"aa_start": 240,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2520,
"cdna_start": 1096,
"cds_end": null,
"cds_length": 1035,
"cds_start": 719,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001287421.2",
"gene_hgnc_id": 12978,
"gene_symbol": "ZSCAN26",
"hgvs_c": "c.719C>A",
"hgvs_p": "p.Thr240Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001274350.1",
"strand": true,
"transcript": "NM_001287421.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 344,
"aa_ref": "T",
"aa_start": 240,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2280,
"cdna_start": 856,
"cds_end": null,
"cds_length": 1035,
"cds_start": 719,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_152736.6",
"gene_hgnc_id": 12978,
"gene_symbol": "ZSCAN26",
"hgvs_c": "c.719C>A",
"hgvs_p": "p.Thr240Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_689949.3",
"strand": true,
"transcript": "NM_152736.6",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 344,
"aa_ref": "T",
"aa_start": 240,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2321,
"cdna_start": 880,
"cds_end": null,
"cds_length": 1035,
"cds_start": 719,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000614088.1",
"gene_hgnc_id": 12978,
"gene_symbol": "ZSCAN26",
"hgvs_c": "c.719C>A",
"hgvs_p": "p.Thr240Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000479314.1",
"strand": true,
"transcript": "ENST00000614088.1",
"transcript_support_level": 3
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 344,
"aa_ref": "T",
"aa_start": 240,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2432,
"cdna_start": 1008,
"cds_end": null,
"cds_length": 1035,
"cds_start": 719,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000854328.1",
"gene_hgnc_id": 12978,
"gene_symbol": "ZSCAN26",
"hgvs_c": "c.719C>A",
"hgvs_p": "p.Thr240Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524387.1",
"strand": true,
"transcript": "ENST00000854328.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 344,
"aa_ref": "T",
"aa_start": 240,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2335,
"cdna_start": 918,
"cds_end": null,
"cds_length": 1035,
"cds_start": 719,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000854329.1",
"gene_hgnc_id": 12978,
"gene_symbol": "ZSCAN26",
"hgvs_c": "c.719C>A",
"hgvs_p": "p.Thr240Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524388.1",
"strand": true,
"transcript": "ENST00000854329.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 344,
"aa_ref": "T",
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