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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: 1-45654576-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=45654576&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "GPBP1L1",
"hgnc_id": 28843,
"hgvs_c": "c.444G>T",
"hgvs_p": "p.Lys148Asn",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_021639.5",
"verdict": "Uncertain_significance"
},
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000306015",
"hgnc_id": null,
"hgvs_c": "n.188-35C>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 1,
"transcript": "ENST00000814735.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.2914,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.47,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.37677061557769775,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 474,
"aa_ref": "K",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3641,
"cdna_start": 1708,
"cds_end": null,
"cds_length": 1425,
"cds_start": 444,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_021639.5",
"gene_hgnc_id": 28843,
"gene_symbol": "GPBP1L1",
"hgvs_c": "c.444G>T",
"hgvs_p": "p.Lys148Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000355105.8",
"protein_coding": true,
"protein_id": "NP_067652.1",
"strand": false,
"transcript": "NM_021639.5",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 474,
"aa_ref": "K",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3641,
"cdna_start": 1708,
"cds_end": null,
"cds_length": 1425,
"cds_start": 444,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000355105.8",
"gene_hgnc_id": 28843,
"gene_symbol": "GPBP1L1",
"hgvs_c": "c.444G>T",
"hgvs_p": "p.Lys148Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_021639.5",
"protein_coding": true,
"protein_id": "ENSP00000347224.3",
"strand": false,
"transcript": "ENST00000355105.8",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 474,
"aa_ref": "K",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3596,
"cdna_start": 1663,
"cds_end": null,
"cds_length": 1425,
"cds_start": 444,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001439214.1",
"gene_hgnc_id": 28843,
"gene_symbol": "GPBP1L1",
"hgvs_c": "c.444G>T",
"hgvs_p": "p.Lys148Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001426143.1",
"strand": false,
"transcript": "NM_001439214.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 474,
"aa_ref": "K",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3599,
"cdna_start": 1666,
"cds_end": null,
"cds_length": 1425,
"cds_start": 444,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000290795.7",
"gene_hgnc_id": 28843,
"gene_symbol": "GPBP1L1",
"hgvs_c": "c.444G>T",
"hgvs_p": "p.Lys148Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000290795.3",
"strand": false,
"transcript": "ENST00000290795.7",
"transcript_support_level": 5
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 474,
"aa_ref": "K",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3563,
"cdna_start": 1819,
"cds_end": null,
"cds_length": 1425,
"cds_start": 444,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000871064.1",
"gene_hgnc_id": 28843,
"gene_symbol": "GPBP1L1",
"hgvs_c": "c.444G>T",
"hgvs_p": "p.Lys148Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541123.1",
"strand": false,
"transcript": "ENST00000871064.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 474,
"aa_ref": "K",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3494,
"cdna_start": 1745,
"cds_end": null,
"cds_length": 1425,
"cds_start": 444,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000871066.1",
"gene_hgnc_id": 28843,
"gene_symbol": "GPBP1L1",
"hgvs_c": "c.444G>T",
"hgvs_p": "p.Lys148Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541125.1",
"strand": false,
"transcript": "ENST00000871066.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 474,
"aa_ref": "K",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3486,
"cdna_start": 1563,
"cds_end": null,
"cds_length": 1425,
"cds_start": 444,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000871067.1",
"gene_hgnc_id": 28843,
"gene_symbol": "GPBP1L1",
"hgvs_c": "c.444G>T",
"hgvs_p": "p.Lys148Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541126.1",
"strand": false,
"transcript": "ENST00000871067.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 474,
"aa_ref": "K",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3621,
"cdna_start": 1695,
"cds_end": null,
"cds_length": 1425,
"cds_start": 444,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000871068.1",
"gene_hgnc_id": 28843,
"gene_symbol": "GPBP1L1",
"hgvs_c": "c.444G>T",
"hgvs_p": "p.Lys148Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541127.1",
"strand": false,
"transcript": "ENST00000871068.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 474,
"aa_ref": "K",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3675,
"cdna_start": 1722,
"cds_end": null,
"cds_length": 1425,
"cds_start": 444,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000871069.1",
"gene_hgnc_id": 28843,
"gene_symbol": "GPBP1L1",
"hgvs_c": "c.444G>T",
"hgvs_p": "p.Lys148Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541128.1",
"strand": false,
"transcript": "ENST00000871069.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 474,
"aa_ref": "K",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3583,
"cdna_start": 1654,
"cds_end": null,
"cds_length": 1425,
"cds_start": 444,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000871070.1",
"gene_hgnc_id": 28843,
"gene_symbol": "GPBP1L1",
"hgvs_c": "c.444G>T",
"hgvs_p": "p.Lys148Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541129.1",
"strand": false,
"transcript": "ENST00000871070.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 474,
"aa_ref": "K",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3607,
"cdna_start": 1678,
"cds_end": null,
"cds_length": 1425,
"cds_start": 444,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000871071.1",
"gene_hgnc_id": 28843,
"gene_symbol": "GPBP1L1",
"hgvs_c": "c.444G>T",
"hgvs_p": "p.Lys148Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541130.1",
"strand": false,
"transcript": "ENST00000871071.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 474,
"aa_ref": "K",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3572,
"cdna_start": 1643,
"cds_end": null,
"cds_length": 1425,
"cds_start": 444,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000871072.1",
"gene_hgnc_id": 28843,
"gene_symbol": "GPBP1L1",
"hgvs_c": "c.444G>T",
"hgvs_p": "p.Lys148Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541131.1",
"strand": false,
"transcript": "ENST00000871072.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 474,
"aa_ref": "K",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3559,
"cdna_start": 1613,
"cds_end": null,
"cds_length": 1425,
"cds_start": 444,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000871073.1",
"gene_hgnc_id": 28843,
"gene_symbol": "GPBP1L1",
"hgvs_c": "c.444G>T",
"hgvs_p": "p.Lys148Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541132.1",
"strand": false,
"transcript": "ENST00000871073.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 474,
"aa_ref": "K",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2559,
"cdna_start": 636,
"cds_end": null,
"cds_length": 1425,
"cds_start": 444,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000871074.1",
"gene_hgnc_id": 28843,
"gene_symbol": "GPBP1L1",
"hgvs_c": "c.444G>T",
"hgvs_p": "p.Lys148Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541133.1",
"strand": false,
"transcript": "ENST00000871074.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 474,
"aa_ref": "K",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3397,
"cdna_start": 1648,
"cds_end": null,
"cds_length": 1425,
"cds_start": 444,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000871076.1",
"gene_hgnc_id": 28843,
"gene_symbol": "GPBP1L1",
"hgvs_c": "c.444G>T",
"hgvs_p": "p.Lys148Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541135.1",
"strand": false,
"transcript": "ENST00000871076.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 474,
"aa_ref": "K",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2509,
"cdna_start": 769,
"cds_end": null,
"cds_length": 1425,
"cds_start": 444,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000871077.1",
"gene_hgnc_id": 28843,
"gene_symbol": "GPBP1L1",
"hgvs_c": "c.444G>T",
"hgvs_p": "p.Lys148Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541136.1",
"strand": false,
"transcript": "ENST00000871077.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 474,
"aa_ref": "K",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3656,
"cdna_start": 1914,
"cds_end": null,
"cds_length": 1425,
"cds_start": 444,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000871078.1",
"gene_hgnc_id": 28843,
"gene_symbol": "GPBP1L1",
"hgvs_c": "c.444G>T",
"hgvs_p": "p.Lys148Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541137.1",
"strand": false,
"transcript": "ENST00000871078.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 474,
"aa_ref": "K",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2579,
"cdna_start": 655,
"cds_end": null,
"cds_length": 1425,
"cds_start": 444,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000871081.1",
"gene_hgnc_id": 28843,
"gene_symbol": "GPBP1L1",
"hgvs_c": "c.444G>T",
"hgvs_p": "p.Lys148Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541140.1",
"strand": false,
"transcript": "ENST00000871081.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 474,
"aa_ref": "K",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3538,
"cdna_start": 1790,
"cds_end": null,
"cds_length": 1425,
"cds_start": 444,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000871084.1",
"gene_hgnc_id": 28843,
"gene_symbol": "GPBP1L1",
"hgvs_c": "c.444G>T",
"hgvs_p": "p.Lys148Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541143.1",
"strand": false,
"transcript": "ENST00000871084.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 474,
"aa_ref": "K",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3850,
"cdna_start": 1921,
"cds_end": null,
"cds_length": 1425,
"cds_start": 444,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000871085.1",
"gene_hgnc_id": 28843,
"gene_symbol": "GPBP1L1",
"hgvs_c": "c.444G>T",
"hgvs_p": "p.Lys148Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541144.1",
"strand": false,
"transcript": "ENST00000871085.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 474,
"aa_ref": "K",
"aa_start": 148,
"biotype": "protein_coding",
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