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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: 19-8262020-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=8262020&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CERS4",
"hgnc_id": 23747,
"hgvs_c": "c.1096G>A",
"hgvs_p": "p.Ala366Thr",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_024552.3",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000303688",
"hgnc_id": null,
"hgvs_c": "n.855-21935C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "ENST00000796540.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 1198176,
"alphamissense_prediction": null,
"alphamissense_score": 0.0723,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.68,
"chr": "19",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.0000010931072438324918,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 394,
"aa_ref": "A",
"aa_start": 366,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1780,
"cdna_start": 1379,
"cds_end": null,
"cds_length": 1185,
"cds_start": 1096,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_024552.3",
"gene_hgnc_id": 23747,
"gene_symbol": "CERS4",
"hgvs_c": "c.1096G>A",
"hgvs_p": "p.Ala366Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000251363.10",
"protein_coding": true,
"protein_id": "NP_078828.2",
"strand": true,
"transcript": "NM_024552.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 394,
"aa_ref": "A",
"aa_start": 366,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1780,
"cdna_start": 1379,
"cds_end": null,
"cds_length": 1185,
"cds_start": 1096,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000251363.10",
"gene_hgnc_id": 23747,
"gene_symbol": "CERS4",
"hgvs_c": "c.1096G>A",
"hgvs_p": "p.Ala366Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_024552.3",
"protein_coding": true,
"protein_id": "ENSP00000251363.5",
"strand": true,
"transcript": "ENST00000251363.10",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 306,
"aa_ref": "A",
"aa_start": 278,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1515,
"cdna_start": 1114,
"cds_end": null,
"cds_length": 921,
"cds_start": 832,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000559336.5",
"gene_hgnc_id": 23747,
"gene_symbol": "CERS4",
"hgvs_c": "c.832G>A",
"hgvs_p": "p.Ala278Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000453815.1",
"strand": true,
"transcript": "ENST00000559336.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1826,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000595722.5",
"gene_hgnc_id": 23747,
"gene_symbol": "CERS4",
"hgvs_c": "n.1425G>A",
"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": "ENST00000595722.5",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 400,
"aa_ref": "A",
"aa_start": 372,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1844,
"cdna_start": 1428,
"cds_end": null,
"cds_length": 1203,
"cds_start": 1114,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000886743.1",
"gene_hgnc_id": 23747,
"gene_symbol": "CERS4",
"hgvs_c": "c.1114G>A",
"hgvs_p": "p.Ala372Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556802.1",
"strand": true,
"transcript": "ENST00000886743.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 400,
"aa_ref": "A",
"aa_start": 372,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1669,
"cdna_start": 1255,
"cds_end": null,
"cds_length": 1203,
"cds_start": 1114,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000886749.1",
"gene_hgnc_id": 23747,
"gene_symbol": "CERS4",
"hgvs_c": "c.1114G>A",
"hgvs_p": "p.Ala372Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556808.1",
"strand": true,
"transcript": "ENST00000886749.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 400,
"aa_ref": "A",
"aa_start": 372,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1821,
"cdna_start": 1420,
"cds_end": null,
"cds_length": 1203,
"cds_start": 1114,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000886750.1",
"gene_hgnc_id": 23747,
"gene_symbol": "CERS4",
"hgvs_c": "c.1114G>A",
"hgvs_p": "p.Ala372Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556809.1",
"strand": true,
"transcript": "ENST00000886750.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 400,
"aa_ref": "A",
"aa_start": 372,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1928,
"cdna_start": 1514,
"cds_end": null,
"cds_length": 1203,
"cds_start": 1114,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000886753.1",
"gene_hgnc_id": 23747,
"gene_symbol": "CERS4",
"hgvs_c": "c.1114G>A",
"hgvs_p": "p.Ala372Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556812.1",
"strand": true,
"transcript": "ENST00000886753.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 400,
"aa_ref": "A",
"aa_start": 372,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1670,
"cdna_start": 1272,
"cds_end": null,
"cds_length": 1203,
"cds_start": 1114,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000886762.1",
"gene_hgnc_id": 23747,
"gene_symbol": "CERS4",
"hgvs_c": "c.1114G>A",
"hgvs_p": "p.Ala372Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556821.1",
"strand": true,
"transcript": "ENST00000886762.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 400,
"aa_ref": "A",
"aa_start": 372,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1578,
"cdna_start": 1180,
"cds_end": null,
"cds_length": 1203,
"cds_start": 1114,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000886779.1",
"gene_hgnc_id": 23747,
"gene_symbol": "CERS4",
"hgvs_c": "c.1114G>A",
"hgvs_p": "p.Ala372Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556838.1",
"strand": true,
"transcript": "ENST00000886779.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 400,
"aa_ref": "A",
"aa_start": 372,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1963,
"cdna_start": 1564,
"cds_end": null,
"cds_length": 1203,
"cds_start": 1114,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000913046.1",
"gene_hgnc_id": 23747,
"gene_symbol": "CERS4",
"hgvs_c": "c.1114G>A",
"hgvs_p": "p.Ala372Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583105.1",
"strand": true,
"transcript": "ENST00000913046.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 400,
"aa_ref": "A",
"aa_start": 372,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2093,
"cdna_start": 1692,
"cds_end": null,
"cds_length": 1203,
"cds_start": 1114,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000913060.1",
"gene_hgnc_id": 23747,
"gene_symbol": "CERS4",
"hgvs_c": "c.1114G>A",
"hgvs_p": "p.Ala372Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583119.1",
"strand": true,
"transcript": "ENST00000913060.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 400,
"aa_ref": "A",
"aa_start": 372,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2670,
"cdna_start": 2272,
"cds_end": null,
"cds_length": 1203,
"cds_start": 1114,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000913062.1",
"gene_hgnc_id": 23747,
"gene_symbol": "CERS4",
"hgvs_c": "c.1114G>A",
"hgvs_p": "p.Ala372Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583121.1",
"strand": true,
"transcript": "ENST00000913062.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 400,
"aa_ref": "A",
"aa_start": 372,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1922,
"cdna_start": 1526,
"cds_end": null,
"cds_length": 1203,
"cds_start": 1114,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000964423.1",
"gene_hgnc_id": 23747,
"gene_symbol": "CERS4",
"hgvs_c": "c.1114G>A",
"hgvs_p": "p.Ala372Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634482.1",
"strand": true,
"transcript": "ENST00000964423.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 394,
"aa_ref": "A",
"aa_start": 366,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1649,
"cdna_start": 1236,
"cds_end": null,
"cds_length": 1185,
"cds_start": 1096,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000559450.6",
"gene_hgnc_id": 23747,
"gene_symbol": "CERS4",
"hgvs_c": "c.1096G>A",
"hgvs_p": "p.Ala366Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000453509.1",
"strand": true,
"transcript": "ENST00000559450.6",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 394,
"aa_ref": "A",
"aa_start": 366,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3288,
"cdna_start": 1592,
"cds_end": null,
"cds_length": 1185,
"cds_start": 1096,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000886737.1",
"gene_hgnc_id": 23747,
"gene_symbol": "CERS4",
"hgvs_c": "c.1096G>A",
"hgvs_p": "p.Ala366Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556796.1",
"strand": true,
"transcript": "ENST00000886737.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 394,
"aa_ref": "A",
"aa_start": 366,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3221,
"cdna_start": 1545,
"cds_end": null,
"cds_length": 1185,
"cds_start": 1096,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000886738.1",
"gene_hgnc_id": 23747,
"gene_symbol": "CERS4",
"hgvs_c": "c.1096G>A",
"hgvs_p": "p.Ala366Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556797.1",
"strand": true,
"transcript": "ENST00000886738.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 394,
"aa_ref": "A",
"aa_start": 366,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2831,
"cdna_start": 1155,
"cds_end": null,
"cds_length": 1185,
"cds_start": 1096,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000886739.1",
"gene_hgnc_id": 23747,
"gene_symbol": "CERS4",
"hgvs_c": "c.1096G>A",
"hgvs_p": "p.Ala366Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556798.1",
"strand": true,
"transcript": "ENST00000886739.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 394,
"aa_ref": "A",
"aa_start": 366,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2929,
"cdna_start": 1253,
"cds_end": null,
"cds_length": 1185,
"cds_start": 1096,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000886740.1",
"gene_hgnc_id": 23747,
"gene_symbol": "CERS4",
"hgvs_c": "c.1096G>A",
"hgvs_p": "p.Ala366Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556799.1",
"strand": true,
"transcript": "ENST00000886740.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 394,
"aa_ref": "A",
"aa_start": 366,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3379,
"cdna_start": 1683,
"cds_end": null,
"cds_length": 1185,
"cds_start": 1096,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000886741.1",
"gene_hgnc_id": 23747,
"gene_symbol": "CERS4",
"hgvs_c": "c.1096G>A",
"hgvs_p": "p.Ala366Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556800.1",
"strand": true,
"transcript": "ENST00000886741.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 394,
"aa_ref": "A",
"aa_start": 366,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2321,
"cdna_start": 1907,
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