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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: 17-5481389-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=5481389&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 5481389,
"ref": "T",
"alt": "C",
"effect": "splice_region_variant,synonymous_variant",
"transcript": "NM_016041.5",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DERL2",
"gene_hgnc_id": 17943,
"hgvs_c": "c.234A>G",
"hgvs_p": "p.Leu78Leu",
"transcript": "NM_016041.5",
"protein_id": "NP_057125.2",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 239,
"cds_start": 234,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000158771.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016041.5"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DERL2",
"gene_hgnc_id": 17943,
"hgvs_c": "c.234A>G",
"hgvs_p": "p.Leu78Leu",
"transcript": "ENST00000158771.9",
"protein_id": "ENSP00000158771.4",
"transcript_support_level": 1,
"aa_start": 78,
"aa_end": null,
"aa_length": 239,
"cds_start": 234,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016041.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000158771.9"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DERL2",
"gene_hgnc_id": 17943,
"hgvs_c": "c.234A>G",
"hgvs_p": "p.Leu78Leu",
"transcript": "ENST00000889580.1",
"protein_id": "ENSP00000559639.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 239,
"cds_start": 234,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889580.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DERL2",
"gene_hgnc_id": 17943,
"hgvs_c": "c.231A>G",
"hgvs_p": "p.Leu77Leu",
"transcript": "ENST00000889592.1",
"protein_id": "ENSP00000559651.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 239,
"cds_start": 231,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889592.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DERL2",
"gene_hgnc_id": 17943,
"hgvs_c": "c.231A>G",
"hgvs_p": "p.Leu77Leu",
"transcript": "NM_001304777.2",
"protein_id": "NP_001291706.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 238,
"cds_start": 231,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001304777.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DERL2",
"gene_hgnc_id": 17943,
"hgvs_c": "c.231A>G",
"hgvs_p": "p.Leu77Leu",
"transcript": "ENST00000889578.1",
"protein_id": "ENSP00000559637.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 238,
"cds_start": 231,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889578.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DERL2",
"gene_hgnc_id": 17943,
"hgvs_c": "c.231A>G",
"hgvs_p": "p.Leu77Leu",
"transcript": "ENST00000931638.1",
"protein_id": "ENSP00000601697.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 238,
"cds_start": 231,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931638.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DERL2",
"gene_hgnc_id": 17943,
"hgvs_c": "c.234A>G",
"hgvs_p": "p.Leu78Leu",
"transcript": "ENST00000889590.1",
"protein_id": "ENSP00000559649.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 236,
"cds_start": 234,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889590.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DERL2",
"gene_hgnc_id": 17943,
"hgvs_c": "c.234A>G",
"hgvs_p": "p.Leu78Leu",
"transcript": "ENST00000889591.1",
"protein_id": "ENSP00000559650.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 227,
"cds_start": 234,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889591.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DERL2",
"gene_hgnc_id": 17943,
"hgvs_c": "c.186A>G",
"hgvs_p": "p.Leu62Leu",
"transcript": "ENST00000889593.1",
"protein_id": "ENSP00000559652.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 224,
"cds_start": 186,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889593.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DERL2",
"gene_hgnc_id": 17943,
"hgvs_c": "c.186A>G",
"hgvs_p": "p.Leu62Leu",
"transcript": "ENST00000889579.1",
"protein_id": "ENSP00000559638.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 223,
"cds_start": 186,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889579.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DERL2",
"gene_hgnc_id": 17943,
"hgvs_c": "c.186A>G",
"hgvs_p": "p.Leu62Leu",
"transcript": "ENST00000889588.1",
"protein_id": "ENSP00000559647.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 223,
"cds_start": 186,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889588.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DERL2",
"gene_hgnc_id": 17943,
"hgvs_c": "c.183A>G",
"hgvs_p": "p.Leu61Leu",
"transcript": "ENST00000889587.1",
"protein_id": "ENSP00000559646.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 222,
"cds_start": 183,
"cds_end": null,
"cds_length": 669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889587.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DERL2",
"gene_hgnc_id": 17943,
"hgvs_c": "c.168A>G",
"hgvs_p": "p.Leu56Leu",
"transcript": "ENST00000889582.1",
"protein_id": "ENSP00000559641.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 217,
"cds_start": 168,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889582.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DERL2",
"gene_hgnc_id": 17943,
"hgvs_c": "c.234A>G",
"hgvs_p": "p.Leu78Leu",
"transcript": "ENST00000889586.1",
"protein_id": "ENSP00000559645.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 211,
"cds_start": 234,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889586.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DERL2",
"gene_hgnc_id": 17943,
"hgvs_c": "c.231A>G",
"hgvs_p": "p.Leu77Leu",
"transcript": "ENST00000967035.1",
"protein_id": "ENSP00000637094.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 210,
"cds_start": 231,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967035.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DERL2",
"gene_hgnc_id": 17943,
"hgvs_c": "c.234A>G",
"hgvs_p": "p.Leu78Leu",
"transcript": "ENST00000571971.1",
"protein_id": "ENSP00000458296.1",
"transcript_support_level": 3,
"aa_start": 78,
"aa_end": null,
"aa_length": 199,
"cds_start": 234,
"cds_end": null,
"cds_length": 600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000571971.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DERL2",
"gene_hgnc_id": 17943,
"hgvs_c": "c.234A>G",
"hgvs_p": "p.Leu78Leu",
"transcript": "ENST00000889583.1",
"protein_id": "ENSP00000559642.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 192,
"cds_start": 234,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889583.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DERL2",
"gene_hgnc_id": 17943,
"hgvs_c": "c.72A>G",
"hgvs_p": "p.Leu24Leu",
"transcript": "ENST00000575605.5",
"protein_id": "ENSP00000459083.1",
"transcript_support_level": 4,
"aa_start": 24,
"aa_end": null,
"aa_length": 158,
"cds_start": 72,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000575605.5"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DERL2",
"gene_hgnc_id": 17943,
"hgvs_c": "c.234A>G",
"hgvs_p": "p.Leu78Leu",
"transcript": "ENST00000931639.1",
"protein_id": "ENSP00000601698.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 156,
"cds_start": 234,
"cds_end": null,
"cds_length": 471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931639.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DERL2",
"gene_hgnc_id": 17943,
"hgvs_c": "c.234A>G",
"hgvs_p": "p.Leu78Leu",
"transcript": "ENST00000570848.5",
"protein_id": "ENSP00000459072.1",
"transcript_support_level": 5,
"aa_start": 78,
"aa_end": null,
"aa_length": 144,
"cds_start": 234,
"cds_end": null,
"cds_length": 435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000570848.5"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
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"gnomad_genomes_ac": 11,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.3700000047683716,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.2199999988079071,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.378,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.000716653632472137,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -9,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Moderate,BP7,BS2",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Moderate",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_016041.5",
"gene_symbol": "DERL2",
"hgnc_id": 17943,
"effects": [
"splice_region_variant",
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.234A>G",
"hgvs_p": "p.Leu78Leu"
}
],
"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
}