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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: 2-208237091-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=208237091&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 208237091,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_005896.4",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDH1",
"gene_hgnc_id": 5382,
"hgvs_c": "c.1233G>A",
"hgvs_p": "p.Gln411Gln",
"transcript": "NM_005896.4",
"protein_id": "NP_005887.2",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 414,
"cds_start": 1233,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000345146.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005896.4"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDH1",
"gene_hgnc_id": 5382,
"hgvs_c": "c.1233G>A",
"hgvs_p": "p.Gln411Gln",
"transcript": "ENST00000345146.7",
"protein_id": "ENSP00000260985.2",
"transcript_support_level": 1,
"aa_start": 411,
"aa_end": null,
"aa_length": 414,
"cds_start": 1233,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005896.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000345146.7"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDH1",
"gene_hgnc_id": 5382,
"hgvs_c": "c.1233G>A",
"hgvs_p": "p.Gln411Gln",
"transcript": "ENST00000415913.5",
"protein_id": "ENSP00000390265.1",
"transcript_support_level": 1,
"aa_start": 411,
"aa_end": null,
"aa_length": 414,
"cds_start": 1233,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000415913.5"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDH1",
"gene_hgnc_id": 5382,
"hgvs_c": "c.1233G>A",
"hgvs_p": "p.Gln411Gln",
"transcript": "ENST00000446179.5",
"protein_id": "ENSP00000410513.1",
"transcript_support_level": 1,
"aa_start": 411,
"aa_end": null,
"aa_length": 414,
"cds_start": 1233,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446179.5"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDH1",
"gene_hgnc_id": 5382,
"hgvs_c": "c.1287G>A",
"hgvs_p": "p.Gln429Gln",
"transcript": "ENST00000911600.1",
"protein_id": "ENSP00000581659.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 432,
"cds_start": 1287,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911600.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDH1",
"gene_hgnc_id": 5382,
"hgvs_c": "c.1233G>A",
"hgvs_p": "p.Gln411Gln",
"transcript": "NM_001282386.1",
"protein_id": "NP_001269315.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 414,
"cds_start": 1233,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282386.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDH1",
"gene_hgnc_id": 5382,
"hgvs_c": "c.1233G>A",
"hgvs_p": "p.Gln411Gln",
"transcript": "NM_001282387.1",
"protein_id": "NP_001269316.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 414,
"cds_start": 1233,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282387.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDH1",
"gene_hgnc_id": 5382,
"hgvs_c": "c.1233G>A",
"hgvs_p": "p.Gln411Gln",
"transcript": "ENST00000862219.1",
"protein_id": "ENSP00000532278.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 414,
"cds_start": 1233,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862219.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDH1",
"gene_hgnc_id": 5382,
"hgvs_c": "c.1233G>A",
"hgvs_p": "p.Gln411Gln",
"transcript": "ENST00000862220.1",
"protein_id": "ENSP00000532279.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 414,
"cds_start": 1233,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862220.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDH1",
"gene_hgnc_id": 5382,
"hgvs_c": "c.1233G>A",
"hgvs_p": "p.Gln411Gln",
"transcript": "ENST00000862224.1",
"protein_id": "ENSP00000532283.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 414,
"cds_start": 1233,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862224.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDH1",
"gene_hgnc_id": 5382,
"hgvs_c": "c.1233G>A",
"hgvs_p": "p.Gln411Gln",
"transcript": "ENST00000862226.1",
"protein_id": "ENSP00000532285.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 414,
"cds_start": 1233,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862226.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDH1",
"gene_hgnc_id": 5382,
"hgvs_c": "c.1233G>A",
"hgvs_p": "p.Gln411Gln",
"transcript": "ENST00000862227.1",
"protein_id": "ENSP00000532286.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 414,
"cds_start": 1233,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862227.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDH1",
"gene_hgnc_id": 5382,
"hgvs_c": "c.1233G>A",
"hgvs_p": "p.Gln411Gln",
"transcript": "ENST00000862228.1",
"protein_id": "ENSP00000532287.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 414,
"cds_start": 1233,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862228.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDH1",
"gene_hgnc_id": 5382,
"hgvs_c": "c.1233G>A",
"hgvs_p": "p.Gln411Gln",
"transcript": "ENST00000862229.1",
"protein_id": "ENSP00000532288.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 414,
"cds_start": 1233,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862229.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDH1",
"gene_hgnc_id": 5382,
"hgvs_c": "c.1233G>A",
"hgvs_p": "p.Gln411Gln",
"transcript": "ENST00000911595.1",
"protein_id": "ENSP00000581654.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 414,
"cds_start": 1233,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911595.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDH1",
"gene_hgnc_id": 5382,
"hgvs_c": "c.1233G>A",
"hgvs_p": "p.Gln411Gln",
"transcript": "ENST00000911597.1",
"protein_id": "ENSP00000581656.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 414,
"cds_start": 1233,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911597.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDH1",
"gene_hgnc_id": 5382,
"hgvs_c": "c.1233G>A",
"hgvs_p": "p.Gln411Gln",
"transcript": "ENST00000911598.1",
"protein_id": "ENSP00000581657.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 414,
"cds_start": 1233,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911598.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDH1",
"gene_hgnc_id": 5382,
"hgvs_c": "c.1233G>A",
"hgvs_p": "p.Gln411Gln",
"transcript": "ENST00000911601.1",
"protein_id": "ENSP00000581660.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 414,
"cds_start": 1233,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911601.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDH1",
"gene_hgnc_id": 5382,
"hgvs_c": "c.1233G>A",
"hgvs_p": "p.Gln411Gln",
"transcript": "ENST00000911602.1",
"protein_id": "ENSP00000581661.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 414,
"cds_start": 1233,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911602.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDH1",
"gene_hgnc_id": 5382,
"hgvs_c": "c.1233G>A",
"hgvs_p": "p.Gln411Gln",
"transcript": "ENST00000911604.1",
"protein_id": "ENSP00000581663.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 414,
"cds_start": 1233,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911604.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDH1",
"gene_hgnc_id": 5382,
"hgvs_c": "c.1233G>A",
"hgvs_p": "p.Gln411Gln",
"transcript": "ENST00000911605.1",
"protein_id": "ENSP00000581664.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 414,
"cds_start": 1233,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911605.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDH1",
"gene_hgnc_id": 5382,
"hgvs_c": "c.1233G>A",
"hgvs_p": "p.Gln411Gln",
"transcript": "ENST00000961866.1",
"protein_id": "ENSP00000631925.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 414,
"cds_start": 1233,
"cds_end": null,
"cds_length": 1245,
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],
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"allele_count_reference_population": 0,
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"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_score": -3,
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{
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"pathogenic_score": 2,
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"BP4_Moderate",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
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],
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}