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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: 18-58367781-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=58367781&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 58367781,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001437337.1",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.2099G>C",
"hgvs_p": "p.Gly700Ala",
"transcript": "NM_001144967.3",
"protein_id": "NP_001138439.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 975,
"cds_start": 2099,
"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": "G",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.2099G>C",
"hgvs_p": "p.Gly700Ala",
"transcript": "ENST00000400345.8",
"protein_id": "ENSP00000383199.2",
"transcript_support_level": 1,
"aa_start": 700,
"aa_end": null,
"aa_length": 975,
"cds_start": 2099,
"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": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.2075G>C",
"hgvs_p": "p.Gly692Ala",
"transcript": "ENST00000357895.9",
"protein_id": "ENSP00000350569.4",
"transcript_support_level": 1,
"aa_start": 692,
"aa_end": null,
"aa_length": 967,
"cds_start": 2075,
"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": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.2039G>C",
"hgvs_p": "p.Gly680Ala",
"transcript": "ENST00000382850.8",
"protein_id": "ENSP00000372301.3",
"transcript_support_level": 1,
"aa_start": 680,
"aa_end": null,
"aa_length": 955,
"cds_start": 2039,
"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": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.2015G>C",
"hgvs_p": "p.Gly672Ala",
"transcript": "ENST00000586263.5",
"protein_id": "ENSP00000468546.1",
"transcript_support_level": 1,
"aa_start": 672,
"aa_end": null,
"aa_length": 947,
"cds_start": 2015,
"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": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.1907G>C",
"hgvs_p": "p.Gly636Ala",
"transcript": "ENST00000356462.10",
"protein_id": "ENSP00000348847.5",
"transcript_support_level": 1,
"aa_start": 636,
"aa_end": null,
"aa_length": 911,
"cds_start": 1907,
"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": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.1736G>C",
"hgvs_p": "p.Gly579Ala",
"transcript": "ENST00000431212.6",
"protein_id": "ENSP00000389406.1",
"transcript_support_level": 1,
"aa_start": 579,
"aa_end": null,
"aa_length": 854,
"cds_start": 1736,
"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": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.1736G>C",
"hgvs_p": "p.Gly579Ala",
"transcript": "ENST00000456986.5",
"protein_id": "ENSP00000411947.1",
"transcript_support_level": 1,
"aa_start": 579,
"aa_end": null,
"aa_length": 854,
"cds_start": 1736,
"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": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.1676G>C",
"hgvs_p": "p.Gly559Ala",
"transcript": "ENST00000435432.6",
"protein_id": "ENSP00000393395.1",
"transcript_support_level": 1,
"aa_start": 559,
"aa_end": null,
"aa_length": 834,
"cds_start": 1676,
"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": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.1676G>C",
"hgvs_p": "p.Gly559Ala",
"transcript": "ENST00000456173.6",
"protein_id": "ENSP00000405440.1",
"transcript_support_level": 1,
"aa_start": 559,
"aa_end": null,
"aa_length": 834,
"cds_start": 1676,
"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": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.2936G>C",
"hgvs_p": "p.Gly979Ala",
"transcript": "NM_001437337.1",
"protein_id": "NP_001424266.1",
"transcript_support_level": null,
"aa_start": 979,
"aa_end": null,
"aa_length": 1254,
"cds_start": 2936,
"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": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.2936G>C",
"hgvs_p": "p.Gly979Ala",
"transcript": "ENST00000635997.1",
"protein_id": "ENSP00000490696.1",
"transcript_support_level": 5,
"aa_start": 979,
"aa_end": null,
"aa_length": 1254,
"cds_start": 2936,
"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": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.2075G>C",
"hgvs_p": "p.Gly692Ala",
"transcript": "NM_001144968.2",
"protein_id": "NP_001138440.1",
"transcript_support_level": null,
"aa_start": 692,
"aa_end": null,
"aa_length": 967,
"cds_start": 2075,
"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": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.2039G>C",
"hgvs_p": "p.Gly680Ala",
"transcript": "NM_015277.6",
"protein_id": "NP_056092.2",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 955,
"cds_start": 2039,
"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": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.2018G>C",
"hgvs_p": "p.Gly673Ala",
"transcript": "ENST00000675147.1",
"protein_id": "ENSP00000501840.1",
"transcript_support_level": null,
"aa_start": 673,
"aa_end": null,
"aa_length": 948,
"cds_start": 2018,
"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": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.2015G>C",
"hgvs_p": "p.Gly672Ala",
"transcript": "NM_001144969.2",
"protein_id": "NP_001138441.1",
"transcript_support_level": null,
"aa_start": 672,
"aa_end": null,
"aa_length": 947,
"cds_start": 2015,
"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": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.2000G>C",
"hgvs_p": "p.Gly667Ala",
"transcript": "ENST00000676223.1",
"protein_id": "ENSP00000502361.1",
"transcript_support_level": null,
"aa_start": 667,
"aa_end": null,
"aa_length": 942,
"cds_start": 2000,
"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": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.1964G>C",
"hgvs_p": "p.Gly655Ala",
"transcript": "ENST00000675221.1",
"protein_id": "ENSP00000502761.1",
"transcript_support_level": null,
"aa_start": 655,
"aa_end": null,
"aa_length": 930,
"cds_start": 1964,
"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": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.1907G>C",
"hgvs_p": "p.Gly636Ala",
"transcript": "NM_001243960.2",
"protein_id": "NP_001230889.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 911,
"cds_start": 1907,
"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": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.1841G>C",
"hgvs_p": "p.Gly614Ala",
"transcript": "ENST00000936802.1",
"protein_id": "ENSP00000606861.1",
"transcript_support_level": null,
"aa_start": 614,
"aa_end": null,
"aa_length": 889,
"cds_start": 1841,
"cds_end": null,
"cds_length": 2670,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936802.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.1787G>C",
"hgvs_p": "p.Gly596Ala",
"transcript": "ENST00000256830.13",
"protein_id": "ENSP00000256830.8",
"transcript_support_level": 5,
"aa_start": 596,
"aa_end": null,
"aa_length": 871,
"cds_start": 1787,
"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": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4L",
"gene_hgnc_id": 7728,
"hgvs_c": "c.1763G>C",
"hgvs_p": "p.Gly588Ala",
"transcript": "ENST00000676024.1",
"protein_id": "ENSP00000502105.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 863,
"cds_start": 1763,
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],
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"frequency_reference_population": 6.842004e-7,
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"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.842e-7,
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"gnomad_exomes_ac": 1,
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"gnomad_exomes_homalt": 0,
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"computational_score_selected": 0.8187868595123291,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.463,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8111,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.01,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 10.003,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
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"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3,BP6_Moderate",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 2,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3",
"BP6_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001437337.1",
"gene_symbol": "NEDD4L",
"hgnc_id": 7728,
"effects": [
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],
"inheritance_mode": "AD",
"hgvs_c": "c.2936G>C",
"hgvs_p": "p.Gly979Ala"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}