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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: 18-58342923-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=58342923&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 58342923,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001437337.1",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.1395C>T",
"hgvs_p": "p.Pro465Pro",
"transcript": "NM_001144967.3",
"protein_id": "NP_001138439.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 975,
"cds_start": 1395,
"cds_end": null,
"cds_length": 2928,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000400345.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001144967.3"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.1395C>T",
"hgvs_p": "p.Pro465Pro",
"transcript": "ENST00000400345.8",
"protein_id": "ENSP00000383199.2",
"transcript_support_level": 1,
"aa_start": 465,
"aa_end": null,
"aa_length": 975,
"cds_start": 1395,
"cds_end": null,
"cds_length": 2928,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001144967.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000400345.8"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.1371C>T",
"hgvs_p": "p.Pro457Pro",
"transcript": "ENST00000357895.9",
"protein_id": "ENSP00000350569.4",
"transcript_support_level": 1,
"aa_start": 457,
"aa_end": null,
"aa_length": 967,
"cds_start": 1371,
"cds_end": null,
"cds_length": 2904,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357895.9"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.1335C>T",
"hgvs_p": "p.Pro445Pro",
"transcript": "ENST00000382850.8",
"protein_id": "ENSP00000372301.3",
"transcript_support_level": 1,
"aa_start": 445,
"aa_end": null,
"aa_length": 955,
"cds_start": 1335,
"cds_end": null,
"cds_length": 2868,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382850.8"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.1311C>T",
"hgvs_p": "p.Pro437Pro",
"transcript": "ENST00000586263.5",
"protein_id": "ENSP00000468546.1",
"transcript_support_level": 1,
"aa_start": 437,
"aa_end": null,
"aa_length": 947,
"cds_start": 1311,
"cds_end": null,
"cds_length": 2844,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000586263.5"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.1203C>T",
"hgvs_p": "p.Pro401Pro",
"transcript": "ENST00000356462.10",
"protein_id": "ENSP00000348847.5",
"transcript_support_level": 1,
"aa_start": 401,
"aa_end": null,
"aa_length": 911,
"cds_start": 1203,
"cds_end": null,
"cds_length": 2736,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356462.10"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.1032C>T",
"hgvs_p": "p.Pro344Pro",
"transcript": "ENST00000431212.6",
"protein_id": "ENSP00000389406.1",
"transcript_support_level": 1,
"aa_start": 344,
"aa_end": null,
"aa_length": 854,
"cds_start": 1032,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000431212.6"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.1032C>T",
"hgvs_p": "p.Pro344Pro",
"transcript": "ENST00000456986.5",
"protein_id": "ENSP00000411947.1",
"transcript_support_level": 1,
"aa_start": 344,
"aa_end": null,
"aa_length": 854,
"cds_start": 1032,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000456986.5"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.972C>T",
"hgvs_p": "p.Pro324Pro",
"transcript": "ENST00000435432.6",
"protein_id": "ENSP00000393395.1",
"transcript_support_level": 1,
"aa_start": 324,
"aa_end": null,
"aa_length": 834,
"cds_start": 972,
"cds_end": null,
"cds_length": 2505,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000435432.6"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.972C>T",
"hgvs_p": "p.Pro324Pro",
"transcript": "ENST00000456173.6",
"protein_id": "ENSP00000405440.1",
"transcript_support_level": 1,
"aa_start": 324,
"aa_end": null,
"aa_length": 834,
"cds_start": 972,
"cds_end": null,
"cds_length": 2505,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000456173.6"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.2232C>T",
"hgvs_p": "p.Pro744Pro",
"transcript": "NM_001437337.1",
"protein_id": "NP_001424266.1",
"transcript_support_level": null,
"aa_start": 744,
"aa_end": null,
"aa_length": 1254,
"cds_start": 2232,
"cds_end": null,
"cds_length": 3765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437337.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.2232C>T",
"hgvs_p": "p.Pro744Pro",
"transcript": "ENST00000635997.1",
"protein_id": "ENSP00000490696.1",
"transcript_support_level": 5,
"aa_start": 744,
"aa_end": null,
"aa_length": 1254,
"cds_start": 2232,
"cds_end": null,
"cds_length": 3765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000635997.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.1371C>T",
"hgvs_p": "p.Pro457Pro",
"transcript": "NM_001144968.2",
"protein_id": "NP_001138440.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 967,
"cds_start": 1371,
"cds_end": null,
"cds_length": 2904,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001144968.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.1335C>T",
"hgvs_p": "p.Pro445Pro",
"transcript": "NM_015277.6",
"protein_id": "NP_056092.2",
"transcript_support_level": null,
"aa_start": 445,
"aa_end": null,
"aa_length": 955,
"cds_start": 1335,
"cds_end": null,
"cds_length": 2868,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015277.6"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.1314C>T",
"hgvs_p": "p.Pro438Pro",
"transcript": "ENST00000675147.1",
"protein_id": "ENSP00000501840.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 948,
"cds_start": 1314,
"cds_end": null,
"cds_length": 2847,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675147.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.1311C>T",
"hgvs_p": "p.Pro437Pro",
"transcript": "NM_001144969.2",
"protein_id": "NP_001138441.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 947,
"cds_start": 1311,
"cds_end": null,
"cds_length": 2844,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001144969.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.1296C>T",
"hgvs_p": "p.Pro432Pro",
"transcript": "ENST00000676223.1",
"protein_id": "ENSP00000502361.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 942,
"cds_start": 1296,
"cds_end": null,
"cds_length": 2829,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676223.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.1260C>T",
"hgvs_p": "p.Pro420Pro",
"transcript": "ENST00000675221.1",
"protein_id": "ENSP00000502761.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 930,
"cds_start": 1260,
"cds_end": null,
"cds_length": 2793,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675221.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.1203C>T",
"hgvs_p": "p.Pro401Pro",
"transcript": "NM_001243960.2",
"protein_id": "NP_001230889.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 911,
"cds_start": 1203,
"cds_end": null,
"cds_length": 2736,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001243960.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.1083C>T",
"hgvs_p": "p.Pro361Pro",
"transcript": "ENST00000256830.13",
"protein_id": "ENSP00000256830.8",
"transcript_support_level": 5,
"aa_start": 361,
"aa_end": null,
"aa_length": 871,
"cds_start": 1083,
"cds_end": null,
"cds_length": 2616,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000256830.13"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.1032C>T",
"hgvs_p": "p.Pro344Pro",
"transcript": "NM_001144964.1",
"protein_id": "NP_001138436.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 854,
"cds_start": 1032,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001144964.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.1032C>T",
"hgvs_p": "p.Pro344Pro",
"transcript": "NM_001144965.2",
"protein_id": "NP_001138437.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 854,
"cds_start": 1032,
"cds_end": null,
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.22,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_by_gene": [
{
"score": -15,
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"pathogenic_score": 0,
"criteria": [
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"BP6_Very_Strong",
"BP7",
"BS2"
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"verdict": "Benign",
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"effects": [
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],
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],
"clinvar_disease": "NEDD4L-related disorder,not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "not provided|NEDD4L-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}