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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: 4-2830096-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=2830096&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BS1",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SH3BP2",
"hgnc_id": 10825,
"hgvs_c": "c.1361C>T",
"hgvs_p": "p.Ala454Val",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_001145856.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS1,BS2",
"acmg_score": -12,
"allele_count_reference_population": 70,
"alphamissense_prediction": null,
"alphamissense_score": 0.0695,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.23,
"chr": "4",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Fibrous dysplasia of jaw",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.04572629928588867,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 561,
"aa_ref": "A",
"aa_start": 397,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9006,
"cdna_start": 1248,
"cds_end": null,
"cds_length": 1686,
"cds_start": 1190,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001122681.2",
"gene_hgnc_id": 10825,
"gene_symbol": "SH3BP2",
"hgvs_c": "c.1190C>T",
"hgvs_p": "p.Ala397Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000503393.8",
"protein_coding": true,
"protein_id": "NP_001116153.1",
"strand": true,
"transcript": "NM_001122681.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 561,
"aa_ref": "A",
"aa_start": 397,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9006,
"cdna_start": 1248,
"cds_end": null,
"cds_length": 1686,
"cds_start": 1190,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000503393.8",
"gene_hgnc_id": 10825,
"gene_symbol": "SH3BP2",
"hgvs_c": "c.1190C>T",
"hgvs_p": "p.Ala397Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001122681.2",
"protein_coding": true,
"protein_id": "ENSP00000422168.3",
"strand": true,
"transcript": "ENST00000503393.8",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 618,
"aa_ref": "A",
"aa_start": 454,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2351,
"cdna_start": 1400,
"cds_end": null,
"cds_length": 1857,
"cds_start": 1361,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000511747.6",
"gene_hgnc_id": 10825,
"gene_symbol": "SH3BP2",
"hgvs_c": "c.1361C>T",
"hgvs_p": "p.Ala454Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000424846.2",
"strand": true,
"transcript": "ENST00000511747.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 9211,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000356331.10",
"gene_hgnc_id": 10825,
"gene_symbol": "SH3BP2",
"hgvs_c": "n.1451C>T",
"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": "ENST00000356331.10",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 618,
"aa_ref": "A",
"aa_start": 454,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9173,
"cdna_start": 1415,
"cds_end": null,
"cds_length": 1857,
"cds_start": 1361,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001145856.2",
"gene_hgnc_id": 10825,
"gene_symbol": "SH3BP2",
"hgvs_c": "c.1361C>T",
"hgvs_p": "p.Ala454Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001139328.1",
"strand": true,
"transcript": "NM_001145856.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 618,
"aa_ref": "A",
"aa_start": 454,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5285,
"cdna_start": 1584,
"cds_end": null,
"cds_length": 1857,
"cds_start": 1361,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000932791.1",
"gene_hgnc_id": 10825,
"gene_symbol": "SH3BP2",
"hgvs_c": "c.1361C>T",
"hgvs_p": "p.Ala454Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602850.1",
"strand": true,
"transcript": "ENST00000932791.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 589,
"aa_ref": "A",
"aa_start": 425,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9139,
"cdna_start": 1381,
"cds_end": null,
"cds_length": 1770,
"cds_start": 1274,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001145855.2",
"gene_hgnc_id": 10825,
"gene_symbol": "SH3BP2",
"hgvs_c": "c.1274C>T",
"hgvs_p": "p.Ala425Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001139327.1",
"strand": true,
"transcript": "NM_001145855.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 589,
"aa_ref": "A",
"aa_start": 425,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9139,
"cdna_start": 1381,
"cds_end": null,
"cds_length": 1770,
"cds_start": 1274,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000435136.8",
"gene_hgnc_id": 10825,
"gene_symbol": "SH3BP2",
"hgvs_c": "c.1274C>T",
"hgvs_p": "p.Ala425Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000403231.3",
"strand": true,
"transcript": "ENST00000435136.8",
"transcript_support_level": 2
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 573,
"aa_ref": "A",
"aa_start": 397,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2232,
"cdna_start": 1248,
"cds_end": null,
"cds_length": 1722,
"cds_start": 1190,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000893561.1",
"gene_hgnc_id": 10825,
"gene_symbol": "SH3BP2",
"hgvs_c": "c.1190C>T",
"hgvs_p": "p.Ala397Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563620.1",
"strand": true,
"transcript": "ENST00000893561.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 561,
"aa_ref": "A",
"aa_start": 397,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9209,
"cdna_start": 1451,
"cds_end": null,
"cds_length": 1686,
"cds_start": 1190,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_003023.4",
"gene_hgnc_id": 10825,
"gene_symbol": "SH3BP2",
"hgvs_c": "c.1190C>T",
"hgvs_p": "p.Ala397Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_003014.3",
"strand": true,
"transcript": "NM_003023.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 561,
"aa_ref": "A",
"aa_start": 397,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9247,
"cdna_start": 1489,
"cds_end": null,
"cds_length": 1686,
"cds_start": 1190,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000502260.6",
"gene_hgnc_id": 10825,
"gene_symbol": "SH3BP2",
"hgvs_c": "c.1190C>T",
"hgvs_p": "p.Ala397Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000425537.2",
"strand": true,
"transcript": "ENST00000502260.6",
"transcript_support_level": 3
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 561,
"aa_ref": "A",
"aa_start": 397,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9073,
"cdna_start": 1313,
"cds_end": null,
"cds_length": 1686,
"cds_start": 1190,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000503219.7",
"gene_hgnc_id": 10825,
"gene_symbol": "SH3BP2",
"hgvs_c": "c.1190C>T",
"hgvs_p": "p.Ala397Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000422796.2",
"strand": true,
"transcript": "ENST00000503219.7",
"transcript_support_level": 4
},
{
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"aa_length": 561,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8988,
"cdna_start": 1230,
"cds_end": null,
"cds_length": 1686,
"cds_start": 1190,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000504294.6",
"gene_hgnc_id": 10825,
"gene_symbol": "SH3BP2",
"hgvs_c": "c.1190C>T",
"hgvs_p": "p.Ala397Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000423275.2",
"strand": true,
"transcript": "ENST00000504294.6",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 561,
"aa_ref": "A",
"aa_start": 397,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9260,
"cdna_start": 1502,
"cds_end": null,
"cds_length": 1686,
"cds_start": 1190,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000508385.6",
"gene_hgnc_id": 10825,
"gene_symbol": "SH3BP2",
"hgvs_c": "c.1190C>T",
"hgvs_p": "p.Ala397Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000424917.2",
"strand": true,
"transcript": "ENST00000508385.6",
"transcript_support_level": 3
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 561,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9054,
"cdna_start": 1296,
"cds_end": null,
"cds_length": 1686,
"cds_start": 1190,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000512014.6",
"gene_hgnc_id": 10825,
"gene_symbol": "SH3BP2",
"hgvs_c": "c.1190C>T",
"hgvs_p": "p.Ala397Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000424105.2",
"strand": true,
"transcript": "ENST00000512014.6",
"transcript_support_level": 3
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 561,
"aa_ref": "A",
"aa_start": 397,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9147,
"cdna_start": 1389,
"cds_end": null,
"cds_length": 1686,
"cds_start": 1190,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000513095.6",
"gene_hgnc_id": 10825,
"gene_symbol": "SH3BP2",
"hgvs_c": "c.1190C>T",
"hgvs_p": "p.Ala397Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000423823.2",
"strand": true,
"transcript": "ENST00000513095.6",
"transcript_support_level": 4
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 561,
"aa_ref": "A",
"aa_start": 397,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5138,
"cdna_start": 1438,
"cds_end": null,
"cds_length": 1686,
"cds_start": 1190,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000893545.1",
"gene_hgnc_id": 10825,
"gene_symbol": "SH3BP2",
"hgvs_c": "c.1190C>T",
"hgvs_p": "p.Ala397Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563604.1",
"strand": true,
"transcript": "ENST00000893545.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 561,
"aa_ref": "A",
"aa_start": 397,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2361,
"cdna_start": 1406,
"cds_end": null,
"cds_length": 1686,
"cds_start": 1190,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000893546.1",
"gene_hgnc_id": 10825,
"gene_symbol": "SH3BP2",
"hgvs_c": "c.1190C>T",
"hgvs_p": "p.Ala397Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563605.1",
"strand": true,
"transcript": "ENST00000893546.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 561,
"aa_ref": "A",
"aa_start": 397,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2642,
"cdna_start": 1691,
"cds_end": null,
"cds_length": 1686,
"cds_start": 1190,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000893548.1",
"gene_hgnc_id": 10825,
"gene_symbol": "SH3BP2",
"hgvs_c": "c.1190C>T",
"hgvs_p": "p.Ala397Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563607.1",
"strand": true,
"transcript": "ENST00000893548.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 561,
"aa_ref": "A",
"aa_start": 397,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2350,
"cdna_start": 1394,
"cds_end": null,
"cds_length": 1686,
"cds_start": 1190,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000893549.1",
"gene_hgnc_id": 10825,
"gene_symbol": "SH3BP2",
"hgvs_c": "c.1190C>T",
"hgvs_p": "p.Ala397Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563608.1",
"strand": true,
"transcript": "ENST00000893549.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 561,
"aa_ref": "A",
"aa_start": 397,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2554,
"cdna_start": 1603,
"cds_end": null,
"cds_length": 1686,
"cds_start": 1190,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000893550.1",
"gene_hgnc_id": 10825,
"gene_symbol": "SH3BP2",
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