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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: 2-29133701-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=29133701&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 29133701,
"ref": "G",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_024692.6",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP4",
"gene_hgnc_id": 26108,
"hgvs_c": "c.414G>C",
"hgvs_p": "p.Leu138Leu",
"transcript": "NM_024692.6",
"protein_id": "NP_078968.3",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 705,
"cds_start": 414,
"cds_end": null,
"cds_length": 2118,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000320081.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024692.6"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP4",
"gene_hgnc_id": 26108,
"hgvs_c": "c.414G>C",
"hgvs_p": "p.Leu138Leu",
"transcript": "ENST00000320081.10",
"protein_id": "ENSP00000327009.5",
"transcript_support_level": 1,
"aa_start": 138,
"aa_end": null,
"aa_length": 705,
"cds_start": 414,
"cds_end": null,
"cds_length": 2118,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024692.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000320081.10"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP4",
"gene_hgnc_id": 26108,
"hgvs_c": "c.414G>C",
"hgvs_p": "p.Leu138Leu",
"transcript": "ENST00000687506.1",
"protein_id": "ENSP00000509486.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 712,
"cds_start": 414,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000687506.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP4",
"gene_hgnc_id": 26108,
"hgvs_c": "c.414G>C",
"hgvs_p": "p.Leu138Leu",
"transcript": "NM_001287527.2",
"protein_id": "NP_001274456.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 705,
"cds_start": 414,
"cds_end": null,
"cds_length": 2118,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287527.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP4",
"gene_hgnc_id": 26108,
"hgvs_c": "c.414G>C",
"hgvs_p": "p.Leu138Leu",
"transcript": "ENST00000404424.5",
"protein_id": "ENSP00000385594.1",
"transcript_support_level": 5,
"aa_start": 138,
"aa_end": null,
"aa_length": 705,
"cds_start": 414,
"cds_end": null,
"cds_length": 2118,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000404424.5"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP4",
"gene_hgnc_id": 26108,
"hgvs_c": "c.414G>C",
"hgvs_p": "p.Leu138Leu",
"transcript": "ENST00000690063.1",
"protein_id": "ENSP00000508552.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 705,
"cds_start": 414,
"cds_end": null,
"cds_length": 2118,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000690063.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP4",
"gene_hgnc_id": 26108,
"hgvs_c": "c.414G>C",
"hgvs_p": "p.Leu138Leu",
"transcript": "ENST00000693264.1",
"protein_id": "ENSP00000509159.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 705,
"cds_start": 414,
"cds_end": null,
"cds_length": 2118,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000693264.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP4",
"gene_hgnc_id": 26108,
"hgvs_c": "c.414G>C",
"hgvs_p": "p.Leu138Leu",
"transcript": "ENST00000881705.1",
"protein_id": "ENSP00000551764.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 705,
"cds_start": 414,
"cds_end": null,
"cds_length": 2118,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881705.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP4",
"gene_hgnc_id": 26108,
"hgvs_c": "c.414G>C",
"hgvs_p": "p.Leu138Leu",
"transcript": "ENST00000881706.1",
"protein_id": "ENSP00000551765.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 705,
"cds_start": 414,
"cds_end": null,
"cds_length": 2118,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881706.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP4",
"gene_hgnc_id": 26108,
"hgvs_c": "c.414G>C",
"hgvs_p": "p.Leu138Leu",
"transcript": "ENST00000949173.1",
"protein_id": "ENSP00000619232.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 705,
"cds_start": 414,
"cds_end": null,
"cds_length": 2118,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949173.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP4",
"gene_hgnc_id": 26108,
"hgvs_c": "c.414G>C",
"hgvs_p": "p.Leu138Leu",
"transcript": "ENST00000949174.1",
"protein_id": "ENSP00000619233.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 705,
"cds_start": 414,
"cds_end": null,
"cds_length": 2118,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949174.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP4",
"gene_hgnc_id": 26108,
"hgvs_c": "c.414G>C",
"hgvs_p": "p.Leu138Leu",
"transcript": "ENST00000949175.1",
"protein_id": "ENSP00000619234.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 705,
"cds_start": 414,
"cds_end": null,
"cds_length": 2118,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949175.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP4",
"gene_hgnc_id": 26108,
"hgvs_c": "c.414G>C",
"hgvs_p": "p.Leu138Leu",
"transcript": "ENST00000949182.1",
"protein_id": "ENSP00000619241.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 705,
"cds_start": 414,
"cds_end": null,
"cds_length": 2118,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949182.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP4",
"gene_hgnc_id": 26108,
"hgvs_c": "c.414G>C",
"hgvs_p": "p.Leu138Leu",
"transcript": "ENST00000949178.1",
"protein_id": "ENSP00000619237.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 698,
"cds_start": 414,
"cds_end": null,
"cds_length": 2097,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949178.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP4",
"gene_hgnc_id": 26108,
"hgvs_c": "c.414G>C",
"hgvs_p": "p.Leu138Leu",
"transcript": "ENST00000689605.1",
"protein_id": "ENSP00000508948.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 666,
"cds_start": 414,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000689605.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP4",
"gene_hgnc_id": 26108,
"hgvs_c": "c.414G>C",
"hgvs_p": "p.Leu138Leu",
"transcript": "ENST00000689017.1",
"protein_id": "ENSP00000510497.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 660,
"cds_start": 414,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000689017.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP4",
"gene_hgnc_id": 26108,
"hgvs_c": "c.414G>C",
"hgvs_p": "p.Leu138Leu",
"transcript": "ENST00000949181.1",
"protein_id": "ENSP00000619240.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 660,
"cds_start": 414,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949181.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP4",
"gene_hgnc_id": 26108,
"hgvs_c": "c.414G>C",
"hgvs_p": "p.Leu138Leu",
"transcript": "ENST00000881707.1",
"protein_id": "ENSP00000551766.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 659,
"cds_start": 414,
"cds_end": null,
"cds_length": 1980,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881707.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP4",
"gene_hgnc_id": 26108,
"hgvs_c": "c.414G>C",
"hgvs_p": "p.Leu138Leu",
"transcript": "ENST00000949180.1",
"protein_id": "ENSP00000619239.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 642,
"cds_start": 414,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949180.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP4",
"gene_hgnc_id": 26108,
"hgvs_c": "c.414G>C",
"hgvs_p": "p.Leu138Leu",
"transcript": "ENST00000687450.1",
"protein_id": "ENSP00000508879.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 637,
"cds_start": 414,
"cds_end": null,
"cds_length": 1914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000687450.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP4",
"gene_hgnc_id": 26108,
"hgvs_c": "c.414G>C",
"hgvs_p": "p.Leu138Leu",
"transcript": "ENST00000949177.1",
"protein_id": "ENSP00000619236.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 637,
"cds_start": 414,
"cds_end": null,
"cds_length": 1914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949177.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP4",
"gene_hgnc_id": 26108,
"hgvs_c": "c.414G>C",
"hgvs_p": "p.Leu138Leu",
"transcript": "ENST00000691129.1",
"protein_id": "ENSP00000510138.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 629,
"cds_start": 414,
"cds_end": null,
"cds_length": 1890,
"cdna_start": null,
"cdna_end": null,
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"feature": "ENST00000693041.1"
}
],
"gene_symbol": "CLIP4",
"gene_hgnc_id": 26108,
"dbsnp": "rs17749904",
"frequency_reference_population": 0.20599324,
"hom_count_reference_population": 36902,
"allele_count_reference_population": 332230,
"gnomad_exomes_af": 0.209709,
"gnomad_genomes_af": 0.170321,
"gnomad_exomes_ac": 306314,
"gnomad_genomes_ac": 25916,
"gnomad_exomes_homalt": 34286,
"gnomad_genomes_homalt": 2616,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.47999998927116394,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.48,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.932,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_024692.6",
"gene_symbol": "CLIP4",
"hgnc_id": 26108,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.414G>C",
"hgvs_p": "p.Leu138Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}