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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: 4-2829656-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=2829656&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 2829656,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000503393.8",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "c.750T>C",
"hgvs_p": "p.Ala250Ala",
"transcript": "NM_001122681.2",
"protein_id": "NP_001116153.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 561,
"cds_start": 750,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 808,
"cdna_end": null,
"cdna_length": 9006,
"mane_select": "ENST00000503393.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "c.750T>C",
"hgvs_p": "p.Ala250Ala",
"transcript": "ENST00000503393.8",
"protein_id": "ENSP00000422168.3",
"transcript_support_level": 1,
"aa_start": 250,
"aa_end": null,
"aa_length": 561,
"cds_start": 750,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 808,
"cdna_end": null,
"cdna_length": 9006,
"mane_select": "NM_001122681.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "c.921T>C",
"hgvs_p": "p.Ala307Ala",
"transcript": "ENST00000511747.6",
"protein_id": "ENSP00000424846.2",
"transcript_support_level": 1,
"aa_start": 307,
"aa_end": null,
"aa_length": 618,
"cds_start": 921,
"cds_end": null,
"cds_length": 1857,
"cdna_start": 960,
"cdna_end": null,
"cdna_length": 2351,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "n.1011T>C",
"hgvs_p": null,
"transcript": "ENST00000356331.10",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9211,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "c.921T>C",
"hgvs_p": "p.Ala307Ala",
"transcript": "NM_001145856.2",
"protein_id": "NP_001139328.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 618,
"cds_start": 921,
"cds_end": null,
"cds_length": 1857,
"cdna_start": 975,
"cdna_end": null,
"cdna_length": 9173,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "c.834T>C",
"hgvs_p": "p.Ala278Ala",
"transcript": "NM_001145855.2",
"protein_id": "NP_001139327.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 589,
"cds_start": 834,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 941,
"cdna_end": null,
"cdna_length": 9139,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "c.834T>C",
"hgvs_p": "p.Ala278Ala",
"transcript": "ENST00000435136.8",
"protein_id": "ENSP00000403231.3",
"transcript_support_level": 2,
"aa_start": 278,
"aa_end": null,
"aa_length": 589,
"cds_start": 834,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 941,
"cdna_end": null,
"cdna_length": 9139,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "c.750T>C",
"hgvs_p": "p.Ala250Ala",
"transcript": "NM_003023.4",
"protein_id": "NP_003014.3",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 561,
"cds_start": 750,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 1011,
"cdna_end": null,
"cdna_length": 9209,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "c.750T>C",
"hgvs_p": "p.Ala250Ala",
"transcript": "ENST00000502260.6",
"protein_id": "ENSP00000425537.2",
"transcript_support_level": 3,
"aa_start": 250,
"aa_end": null,
"aa_length": 561,
"cds_start": 750,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 1049,
"cdna_end": null,
"cdna_length": 9247,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "c.750T>C",
"hgvs_p": "p.Ala250Ala",
"transcript": "ENST00000503219.7",
"protein_id": "ENSP00000422796.2",
"transcript_support_level": 4,
"aa_start": 250,
"aa_end": null,
"aa_length": 561,
"cds_start": 750,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 873,
"cdna_end": null,
"cdna_length": 9073,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "c.750T>C",
"hgvs_p": "p.Ala250Ala",
"transcript": "ENST00000504294.6",
"protein_id": "ENSP00000423275.2",
"transcript_support_level": 5,
"aa_start": 250,
"aa_end": null,
"aa_length": 561,
"cds_start": 750,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 790,
"cdna_end": null,
"cdna_length": 8988,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "c.750T>C",
"hgvs_p": "p.Ala250Ala",
"transcript": "ENST00000508385.6",
"protein_id": "ENSP00000424917.2",
"transcript_support_level": 3,
"aa_start": 250,
"aa_end": null,
"aa_length": 561,
"cds_start": 750,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 1062,
"cdna_end": null,
"cdna_length": 9260,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "c.750T>C",
"hgvs_p": "p.Ala250Ala",
"transcript": "ENST00000512014.6",
"protein_id": "ENSP00000424105.2",
"transcript_support_level": 3,
"aa_start": 250,
"aa_end": null,
"aa_length": 561,
"cds_start": 750,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 856,
"cdna_end": null,
"cdna_length": 9054,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "c.750T>C",
"hgvs_p": "p.Ala250Ala",
"transcript": "ENST00000513095.6",
"protein_id": "ENSP00000423823.2",
"transcript_support_level": 4,
"aa_start": 250,
"aa_end": null,
"aa_length": 561,
"cds_start": 750,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 949,
"cdna_end": null,
"cdna_length": 9147,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "n.768T>C",
"hgvs_p": null,
"transcript": "ENST00000505941.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 917,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "n.1227T>C",
"hgvs_p": null,
"transcript": "ENST00000510204.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3617,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "n.*631T>C",
"hgvs_p": null,
"transcript": "ENST00000513020.6",
"protein_id": "ENSP00000424072.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9364,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "n.488T>C",
"hgvs_p": null,
"transcript": "ENST00000515183.5",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "n.1190T>C",
"hgvs_p": null,
"transcript": "ENST00000515737.6",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "n.856T>C",
"hgvs_p": null,
"transcript": "ENST00000515802.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2247,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "n.*713T>C",
"hgvs_p": null,
"transcript": "ENST00000714406.1",
"protein_id": "ENSP00000519674.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2449,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "n.*631T>C",
"hgvs_p": null,
"transcript": "ENST00000513020.6",
"protein_id": "ENSP00000424072.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9364,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "n.*713T>C",
"hgvs_p": null,
"transcript": "ENST00000714406.1",
"protein_id": "ENSP00000519674.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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],
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"acmg_by_gene": [
{
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"BP4_Strong",
"BP7"
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"verdict": "Likely_benign",
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"effects": [
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"inheritance_mode": "AD",
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}