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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: 8-13100516-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=13100516&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 13100516,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000276297.9",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLC1",
"gene_hgnc_id": 2897,
"hgvs_c": "c.1821G>T",
"hgvs_p": "p.Ala607Ala",
"transcript": "NM_182643.3",
"protein_id": "NP_872584.2",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 1528,
"cds_start": 1821,
"cds_end": null,
"cds_length": 4587,
"cdna_start": 2196,
"cdna_end": null,
"cdna_length": 7412,
"mane_select": "ENST00000276297.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLC1",
"gene_hgnc_id": 2897,
"hgvs_c": "c.1821G>T",
"hgvs_p": "p.Ala607Ala",
"transcript": "ENST00000276297.9",
"protein_id": "ENSP00000276297.4",
"transcript_support_level": 1,
"aa_start": 607,
"aa_end": null,
"aa_length": 1528,
"cds_start": 1821,
"cds_end": null,
"cds_length": 4587,
"cdna_start": 2196,
"cdna_end": null,
"cdna_length": 7412,
"mane_select": "NM_182643.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"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": "DLC1",
"gene_hgnc_id": 2897,
"hgvs_c": "c.510G>T",
"hgvs_p": "p.Ala170Ala",
"transcript": "ENST00000358919.6",
"protein_id": "ENSP00000351797.2",
"transcript_support_level": 1,
"aa_start": 170,
"aa_end": null,
"aa_length": 1091,
"cds_start": 510,
"cds_end": null,
"cds_length": 3276,
"cdna_start": 1004,
"cdna_end": null,
"cdna_length": 4392,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLC1",
"gene_hgnc_id": 2897,
"hgvs_c": "c.1821G>T",
"hgvs_p": "p.Ala607Ala",
"transcript": "NM_001348081.2",
"protein_id": "NP_001335010.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 1528,
"cds_start": 1821,
"cds_end": null,
"cds_length": 4587,
"cdna_start": 2030,
"cdna_end": null,
"cdna_length": 7246,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLC1",
"gene_hgnc_id": 2897,
"hgvs_c": "c.1821G>T",
"hgvs_p": "p.Ala607Ala",
"transcript": "NM_001413124.1",
"protein_id": "NP_001400053.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 1528,
"cds_start": 1821,
"cds_end": null,
"cds_length": 4587,
"cdna_start": 2139,
"cdna_end": null,
"cdna_length": 7355,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLC1",
"gene_hgnc_id": 2897,
"hgvs_c": "c.747G>T",
"hgvs_p": "p.Ala249Ala",
"transcript": "NM_001413132.1",
"protein_id": "NP_001400061.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 1170,
"cds_start": 747,
"cds_end": null,
"cds_length": 3513,
"cdna_start": 868,
"cdna_end": null,
"cdna_length": 6084,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLC1",
"gene_hgnc_id": 2897,
"hgvs_c": "c.645G>T",
"hgvs_p": "p.Ala215Ala",
"transcript": "NM_001413140.1",
"protein_id": "NP_001400069.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 1136,
"cds_start": 645,
"cds_end": null,
"cds_length": 3411,
"cdna_start": 954,
"cdna_end": null,
"cdna_length": 6170,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"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": "DLC1",
"gene_hgnc_id": 2897,
"hgvs_c": "c.612G>T",
"hgvs_p": "p.Ala204Ala",
"transcript": "NM_001316668.2",
"protein_id": "NP_001303597.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 1125,
"cds_start": 612,
"cds_end": null,
"cds_length": 3378,
"cdna_start": 733,
"cdna_end": null,
"cdna_length": 5949,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"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": "DLC1",
"gene_hgnc_id": 2897,
"hgvs_c": "c.612G>T",
"hgvs_p": "p.Ala204Ala",
"transcript": "ENST00000512044.6",
"protein_id": "ENSP00000422595.2",
"transcript_support_level": 2,
"aa_start": 204,
"aa_end": null,
"aa_length": 1125,
"cds_start": 612,
"cds_end": null,
"cds_length": 3378,
"cdna_start": 758,
"cdna_end": null,
"cdna_length": 3758,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLC1",
"gene_hgnc_id": 2897,
"hgvs_c": "c.603G>T",
"hgvs_p": "p.Ala201Ala",
"transcript": "NM_001413130.1",
"protein_id": "NP_001400059.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 1122,
"cds_start": 603,
"cds_end": null,
"cds_length": 3369,
"cdna_start": 824,
"cdna_end": null,
"cdna_length": 6040,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLC1",
"gene_hgnc_id": 2897,
"hgvs_c": "c.510G>T",
"hgvs_p": "p.Ala170Ala",
"transcript": "NM_001413135.1",
"protein_id": "NP_001400064.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 1097,
"cds_start": 510,
"cds_end": null,
"cds_length": 3294,
"cdna_start": 819,
"cdna_end": null,
"cdna_length": 4083,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"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": "DLC1",
"gene_hgnc_id": 2897,
"hgvs_c": "c.510G>T",
"hgvs_p": "p.Ala170Ala",
"transcript": "NM_006094.5",
"protein_id": "NP_006085.2",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 1091,
"cds_start": 510,
"cds_end": null,
"cds_length": 3276,
"cdna_start": 819,
"cdna_end": null,
"cdna_length": 6035,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"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": "DLC1",
"gene_hgnc_id": 2897,
"hgvs_c": "c.612G>T",
"hgvs_p": "p.Ala204Ala",
"transcript": "NM_001413129.1",
"protein_id": "NP_001400058.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 1052,
"cds_start": 612,
"cds_end": null,
"cds_length": 3159,
"cdna_start": 733,
"cdna_end": null,
"cdna_length": 5730,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"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": "DLC1",
"gene_hgnc_id": 2897,
"hgvs_c": "c.510G>T",
"hgvs_p": "p.Ala170Ala",
"transcript": "NM_001413136.1",
"protein_id": "NP_001400065.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 1018,
"cds_start": 510,
"cds_end": null,
"cds_length": 3057,
"cdna_start": 819,
"cdna_end": null,
"cdna_length": 5816,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"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": "DLC1",
"gene_hgnc_id": 2897,
"hgvs_c": "c.288G>T",
"hgvs_p": "p.Ala96Ala",
"transcript": "NM_001164271.2",
"protein_id": "NP_001157743.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 1017,
"cds_start": 288,
"cds_end": null,
"cds_length": 3054,
"cdna_start": 572,
"cdna_end": null,
"cdna_length": 5788,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLC1",
"gene_hgnc_id": 2897,
"hgvs_c": "c.288G>T",
"hgvs_p": "p.Ala96Ala",
"transcript": "NM_001348082.2",
"protein_id": "NP_001335011.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 1017,
"cds_start": 288,
"cds_end": null,
"cds_length": 3054,
"cdna_start": 1948,
"cdna_end": null,
"cdna_length": 7164,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"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": "DLC1",
"gene_hgnc_id": 2897,
"hgvs_c": "c.288G>T",
"hgvs_p": "p.Ala96Ala",
"transcript": "NM_001348083.1",
"protein_id": "NP_001335012.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 1017,
"cds_start": 288,
"cds_end": null,
"cds_length": 3054,
"cdna_start": 563,
"cdna_end": null,
"cdna_length": 5777,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLC1",
"gene_hgnc_id": 2897,
"hgvs_c": "c.288G>T",
"hgvs_p": "p.Ala96Ala",
"transcript": "NM_001348084.2",
"protein_id": "NP_001335013.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 1017,
"cds_start": 288,
"cds_end": null,
"cds_length": 3054,
"cdna_start": 737,
"cdna_end": null,
"cdna_length": 5953,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"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": "DLC1",
"gene_hgnc_id": 2897,
"hgvs_c": "c.288G>T",
"hgvs_p": "p.Ala96Ala",
"transcript": "NM_001413126.1",
"protein_id": "NP_001400055.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 1017,
"cds_start": 288,
"cds_end": null,
"cds_length": 3054,
"cdna_start": 610,
"cdna_end": null,
"cdna_length": 5826,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLC1",
"gene_hgnc_id": 2897,
"hgvs_c": "c.288G>T",
"hgvs_p": "p.Ala96Ala",
"transcript": "NM_001413127.1",
"protein_id": "NP_001400056.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 1017,
"cds_start": 288,
"cds_end": null,
"cds_length": 3054,
"cdna_start": 688,
"cdna_end": null,
"cdna_length": 5904,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLC1",
"gene_hgnc_id": 2897,
"hgvs_c": "c.288G>T",
"hgvs_p": "p.Ala96Ala",
"transcript": "NM_001413128.1",
"protein_id": "NP_001400057.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 1017,
"cds_start": 288,
"cds_end": null,
"cds_length": 3054,
"cdna_start": 651,
"cdna_end": null,
"cdna_length": 5867,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLC1",
"gene_hgnc_id": 2897,
"hgvs_c": "c.288G>T",
"hgvs_p": "p.Ala96Ala",
"transcript": "NM_001413133.1",
"protein_id": "NP_001400062.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 1017,
"cds_start": 288,
"cds_end": null,
"cds_length": 3054,
"cdna_start": 970,
"cdna_end": null,
"cdna_length": 6186,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLC1",
"gene_hgnc_id": 2897,
"hgvs_c": "c.288G>T",
"hgvs_p": "p.Ala96Ala",
"transcript": "NM_001413138.1",
"protein_id": "NP_001400067.1",
"transcript_support_level": null,
"aa_start": 96,
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}
],
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"splice_prediction_selected": "Benign",
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"alphamissense_score": null,
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"bayesdelnoaf_score": -0.59,
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"phylop100way_score": -1.02,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
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"acmg_score": -21,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
"score": -21,
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"pathogenic_score": 0,
"criteria": [
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"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000276297.9",
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"effects": [
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],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.1821G>T",
"hgvs_p": "p.Ala607Ala"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}