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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: 18-3814148-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=3814148&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 3814148,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000315677.8",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLGAP1",
"gene_hgnc_id": 2905,
"hgvs_c": "c.1083G>T",
"hgvs_p": "p.Thr361Thr",
"transcript": "NM_004746.4",
"protein_id": "NP_004737.2",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 977,
"cds_start": 1083,
"cds_end": null,
"cds_length": 2934,
"cdna_start": 1651,
"cdna_end": null,
"cdna_length": 6655,
"mane_select": "ENST00000315677.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLGAP1",
"gene_hgnc_id": 2905,
"hgvs_c": "c.1083G>T",
"hgvs_p": "p.Thr361Thr",
"transcript": "ENST00000315677.8",
"protein_id": "ENSP00000316377.3",
"transcript_support_level": 5,
"aa_start": 361,
"aa_end": null,
"aa_length": 977,
"cds_start": 1083,
"cds_end": null,
"cds_length": 2934,
"cdna_start": 1651,
"cdna_end": null,
"cdna_length": 6655,
"mane_select": "NM_004746.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLGAP1",
"gene_hgnc_id": 2905,
"hgvs_c": "c.177G>T",
"hgvs_p": "p.Thr59Thr",
"transcript": "ENST00000400147.6",
"protein_id": "ENSP00000383011.2",
"transcript_support_level": 1,
"aa_start": 59,
"aa_end": null,
"aa_length": 675,
"cds_start": 177,
"cds_end": null,
"cds_length": 2028,
"cdna_start": 254,
"cdna_end": null,
"cdna_length": 5258,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLGAP1",
"gene_hgnc_id": 2905,
"hgvs_c": "c.177G>T",
"hgvs_p": "p.Thr59Thr",
"transcript": "ENST00000400145.6",
"protein_id": "ENSP00000383010.2",
"transcript_support_level": 1,
"aa_start": 59,
"aa_end": null,
"aa_length": 627,
"cds_start": 177,
"cds_end": null,
"cds_length": 1884,
"cdna_start": 191,
"cdna_end": null,
"cdna_length": 2188,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLGAP1",
"gene_hgnc_id": 2905,
"hgvs_c": "n.1091G>T",
"hgvs_p": null,
"transcript": "ENST00000498188.5",
"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": 1759,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLGAP1",
"gene_hgnc_id": 2905,
"hgvs_c": "c.1083G>T",
"hgvs_p": "p.Thr361Thr",
"transcript": "NM_001398525.1",
"protein_id": "NP_001385454.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 987,
"cds_start": 1083,
"cds_end": null,
"cds_length": 2964,
"cdna_start": 1651,
"cdna_end": null,
"cdna_length": 6685,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLGAP1",
"gene_hgnc_id": 2905,
"hgvs_c": "c.1083G>T",
"hgvs_p": "p.Thr361Thr",
"transcript": "NM_001398526.1",
"protein_id": "NP_001385455.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 987,
"cds_start": 1083,
"cds_end": null,
"cds_length": 2964,
"cdna_start": 1646,
"cdna_end": null,
"cdna_length": 6680,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLGAP1",
"gene_hgnc_id": 2905,
"hgvs_c": "c.1083G>T",
"hgvs_p": "p.Thr361Thr",
"transcript": "NM_001398527.1",
"protein_id": "NP_001385456.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 977,
"cds_start": 1083,
"cds_end": null,
"cds_length": 2934,
"cdna_start": 1646,
"cdna_end": null,
"cdna_length": 6650,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLGAP1",
"gene_hgnc_id": 2905,
"hgvs_c": "c.1083G>T",
"hgvs_p": "p.Thr361Thr",
"transcript": "NM_001398528.1",
"protein_id": "NP_001385457.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 939,
"cds_start": 1083,
"cds_end": null,
"cds_length": 2820,
"cdna_start": 1646,
"cdna_end": null,
"cdna_length": 3659,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLGAP1",
"gene_hgnc_id": 2905,
"hgvs_c": "c.1083G>T",
"hgvs_p": "p.Thr361Thr",
"transcript": "NM_001242761.2",
"protein_id": "NP_001229690.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 929,
"cds_start": 1083,
"cds_end": null,
"cds_length": 2790,
"cdna_start": 1651,
"cdna_end": null,
"cdna_length": 3634,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLGAP1",
"gene_hgnc_id": 2905,
"hgvs_c": "c.1083G>T",
"hgvs_p": "p.Thr361Thr",
"transcript": "ENST00000581527.5",
"protein_id": "ENSP00000463864.1",
"transcript_support_level": 2,
"aa_start": 361,
"aa_end": null,
"aa_length": 929,
"cds_start": 1083,
"cds_end": null,
"cds_length": 2790,
"cdna_start": 1610,
"cdna_end": null,
"cdna_length": 3525,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLGAP1",
"gene_hgnc_id": 2905,
"hgvs_c": "c.333G>T",
"hgvs_p": "p.Thr111Thr",
"transcript": "NM_001398530.1",
"protein_id": "NP_001385459.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 737,
"cds_start": 333,
"cds_end": null,
"cds_length": 2214,
"cdna_start": 387,
"cdna_end": null,
"cdna_length": 5421,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLGAP1",
"gene_hgnc_id": 2905,
"hgvs_c": "c.315G>T",
"hgvs_p": "p.Thr105Thr",
"transcript": "NM_001398531.1",
"protein_id": "NP_001385460.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 731,
"cds_start": 315,
"cds_end": null,
"cds_length": 2196,
"cdna_start": 389,
"cdna_end": null,
"cdna_length": 5423,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLGAP1",
"gene_hgnc_id": 2905,
"hgvs_c": "c.219G>T",
"hgvs_p": "p.Thr73Thr",
"transcript": "NM_001242763.2",
"protein_id": "NP_001229692.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 699,
"cds_start": 219,
"cds_end": null,
"cds_length": 2100,
"cdna_start": 273,
"cdna_end": null,
"cdna_length": 5307,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLGAP1",
"gene_hgnc_id": 2905,
"hgvs_c": "c.219G>T",
"hgvs_p": "p.Thr73Thr",
"transcript": "ENST00000515196.6",
"protein_id": "ENSP00000445973.2",
"transcript_support_level": 2,
"aa_start": 73,
"aa_end": null,
"aa_length": 699,
"cds_start": 219,
"cds_end": null,
"cds_length": 2100,
"cdna_start": 280,
"cdna_end": null,
"cdna_length": 5314,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLGAP1",
"gene_hgnc_id": 2905,
"hgvs_c": "c.207G>T",
"hgvs_p": "p.Thr69Thr",
"transcript": "NM_001398532.1",
"protein_id": "NP_001385461.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 695,
"cds_start": 207,
"cds_end": null,
"cds_length": 2088,
"cdna_start": 281,
"cdna_end": null,
"cdna_length": 5315,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLGAP1",
"gene_hgnc_id": 2905,
"hgvs_c": "c.201G>T",
"hgvs_p": "p.Thr67Thr",
"transcript": "NM_001308390.2",
"protein_id": "NP_001295319.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 693,
"cds_start": 201,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 275,
"cdna_end": null,
"cdna_length": 5309,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLGAP1",
"gene_hgnc_id": 2905,
"hgvs_c": "c.201G>T",
"hgvs_p": "p.Thr67Thr",
"transcript": "ENST00000400150.7",
"protein_id": "ENSP00000383014.3",
"transcript_support_level": 5,
"aa_start": 67,
"aa_end": null,
"aa_length": 693,
"cds_start": 201,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 298,
"cdna_end": null,
"cdna_length": 5332,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLGAP1",
"gene_hgnc_id": 2905,
"hgvs_c": "c.219G>T",
"hgvs_p": "p.Thr73Thr",
"transcript": "NM_001398533.1",
"protein_id": "NP_001385462.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 689,
"cds_start": 219,
"cds_end": null,
"cds_length": 2070,
"cdna_start": 273,
"cdna_end": null,
"cdna_length": 5277,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLGAP1",
"gene_hgnc_id": 2905,
"hgvs_c": "c.177G>T",
"hgvs_p": "p.Thr59Thr",
"transcript": "NM_001242766.2",
"protein_id": "NP_001229695.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 685,
"cds_start": 177,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 253,
"cdna_end": null,
"cdna_length": 5287,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLGAP1",
"gene_hgnc_id": 2905,
"hgvs_c": "c.207G>T",
"hgvs_p": "p.Thr69Thr",
"transcript": "NM_001398534.1",
"protein_id": "NP_001385463.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 685,
"cds_start": 207,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 281,
"cdna_end": null,
"cdna_length": 5285,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLGAP1",
"gene_hgnc_id": 2905,
"hgvs_c": "c.177G>T",
"hgvs_p": "p.Thr59Thr",
"transcript": "ENST00000539435.5",
"protein_id": "ENSP00000446312.1",
"transcript_support_level": 2,
"aa_start": 59,
"aa_end": null,
"aa_length": 685,
"cds_start": 177,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 253,
"cdna_end": null,
"cdna_length": 2402,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLGAP1",
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],
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.38,
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"phylop100way_prediction": "Benign",
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{
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"BP7"
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"verdict": "Likely_benign",
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],
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"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
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"custom_annotations": null
}
],
"message": null
}