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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: 12-31096638-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=31096638&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 31096638,
"ref": "T",
"alt": "G",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_152438.2",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX11",
"gene_hgnc_id": 2736,
"hgvs_c": "c.1523T>G",
"hgvs_p": "p.Leu508Arg",
"transcript": "NM_030653.4",
"protein_id": "NP_085911.2",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 906,
"cds_start": 1523,
"cds_end": null,
"cds_length": 2721,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000542838.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_030653.4"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX11",
"gene_hgnc_id": 2736,
"hgvs_c": "c.1523T>G",
"hgvs_p": "p.Leu508Arg",
"transcript": "ENST00000542838.6",
"protein_id": "ENSP00000443426.1",
"transcript_support_level": 1,
"aa_start": 508,
"aa_end": null,
"aa_length": 906,
"cds_start": 1523,
"cds_end": null,
"cds_length": 2721,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_030653.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000542838.6"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX11",
"gene_hgnc_id": 2736,
"hgvs_c": "c.1523T>G",
"hgvs_p": "p.Leu508Arg",
"transcript": "ENST00000545668.5",
"protein_id": "ENSP00000440402.1",
"transcript_support_level": 1,
"aa_start": 508,
"aa_end": null,
"aa_length": 970,
"cds_start": 1523,
"cds_end": null,
"cds_length": 2913,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000545668.5"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX11",
"gene_hgnc_id": 2736,
"hgvs_c": "c.1445T>G",
"hgvs_p": "p.Leu482Arg",
"transcript": "ENST00000228264.10",
"protein_id": "ENSP00000228264.6",
"transcript_support_level": 1,
"aa_start": 482,
"aa_end": null,
"aa_length": 880,
"cds_start": 1445,
"cds_end": null,
"cds_length": 2643,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000228264.10"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX11",
"gene_hgnc_id": 2736,
"hgvs_c": "c.1523T>G",
"hgvs_p": "p.Leu508Arg",
"transcript": "ENST00000350437.8",
"protein_id": "ENSP00000309965.5",
"transcript_support_level": 1,
"aa_start": 508,
"aa_end": null,
"aa_length": 856,
"cds_start": 1523,
"cds_end": null,
"cds_length": 2571,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000350437.8"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX11",
"gene_hgnc_id": 2736,
"hgvs_c": "c.1523T>G",
"hgvs_p": "p.Leu508Arg",
"transcript": "NM_001257144.2",
"protein_id": "NP_001244073.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 970,
"cds_start": 1523,
"cds_end": null,
"cds_length": 2913,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001257144.2"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX11",
"gene_hgnc_id": 2736,
"hgvs_c": "c.1523T>G",
"hgvs_p": "p.Leu508Arg",
"transcript": "NM_001413695.1",
"protein_id": "NP_001400624.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 970,
"cds_start": 1523,
"cds_end": null,
"cds_length": 2913,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413695.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX11",
"gene_hgnc_id": 2736,
"hgvs_c": "c.1523T>G",
"hgvs_p": "p.Leu508Arg",
"transcript": "NM_001413696.1",
"protein_id": "NP_001400625.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 970,
"cds_start": 1523,
"cds_end": null,
"cds_length": 2913,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413696.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX11",
"gene_hgnc_id": 2736,
"hgvs_c": "c.1523T>G",
"hgvs_p": "p.Leu508Arg",
"transcript": "NM_152438.2",
"protein_id": "NP_689651.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 970,
"cds_start": 1523,
"cds_end": null,
"cds_length": 2913,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152438.2"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX11",
"gene_hgnc_id": 2736,
"hgvs_c": "c.1445T>G",
"hgvs_p": "p.Leu482Arg",
"transcript": "NM_001413699.1",
"protein_id": "NP_001400628.1",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 944,
"cds_start": 1445,
"cds_end": null,
"cds_length": 2835,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413699.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX11",
"gene_hgnc_id": 2736,
"hgvs_c": "c.1523T>G",
"hgvs_p": "p.Leu508Arg",
"transcript": "ENST00000919962.1",
"protein_id": "ENSP00000590021.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 931,
"cds_start": 1523,
"cds_end": null,
"cds_length": 2796,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919962.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX11",
"gene_hgnc_id": 2736,
"hgvs_c": "c.1523T>G",
"hgvs_p": "p.Leu508Arg",
"transcript": "ENST00000950083.1",
"protein_id": "ENSP00000620142.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 931,
"cds_start": 1523,
"cds_end": null,
"cds_length": 2796,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950083.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX11",
"gene_hgnc_id": 2736,
"hgvs_c": "c.1523T>G",
"hgvs_p": "p.Leu508Arg",
"transcript": "ENST00000950085.1",
"protein_id": "ENSP00000620144.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 931,
"cds_start": 1523,
"cds_end": null,
"cds_length": 2796,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950085.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX11",
"gene_hgnc_id": 2736,
"hgvs_c": "c.1523T>G",
"hgvs_p": "p.Leu508Arg",
"transcript": "ENST00000879107.1",
"protein_id": "ENSP00000549166.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 918,
"cds_start": 1523,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879107.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX11",
"gene_hgnc_id": 2736,
"hgvs_c": "c.1523T>G",
"hgvs_p": "p.Leu508Arg",
"transcript": "NM_001413692.1",
"protein_id": "NP_001400621.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 906,
"cds_start": 1523,
"cds_end": null,
"cds_length": 2721,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413692.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX11",
"gene_hgnc_id": 2736,
"hgvs_c": "c.1523T>G",
"hgvs_p": "p.Leu508Arg",
"transcript": "NM_001413693.1",
"protein_id": "NP_001400622.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 906,
"cds_start": 1523,
"cds_end": null,
"cds_length": 2721,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413693.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX11",
"gene_hgnc_id": 2736,
"hgvs_c": "c.1523T>G",
"hgvs_p": "p.Leu508Arg",
"transcript": "NM_001413694.1",
"protein_id": "NP_001400623.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 906,
"cds_start": 1523,
"cds_end": null,
"cds_length": 2721,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413694.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX11",
"gene_hgnc_id": 2736,
"hgvs_c": "c.1523T>G",
"hgvs_p": "p.Leu508Arg",
"transcript": "ENST00000879106.1",
"protein_id": "ENSP00000549165.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 906,
"cds_start": 1523,
"cds_end": null,
"cds_length": 2721,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879106.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX11",
"gene_hgnc_id": 2736,
"hgvs_c": "c.1523T>G",
"hgvs_p": "p.Leu508Arg",
"transcript": "ENST00000879108.1",
"protein_id": "ENSP00000549167.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 906,
"cds_start": 1523,
"cds_end": null,
"cds_length": 2721,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879108.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX11",
"gene_hgnc_id": 2736,
"hgvs_c": "c.1523T>G",
"hgvs_p": "p.Leu508Arg",
"transcript": "ENST00000919947.1",
"protein_id": "ENSP00000590006.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 906,
"cds_start": 1523,
"cds_end": null,
"cds_length": 2721,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919947.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX11",
"gene_hgnc_id": 2736,
"hgvs_c": "c.1523T>G",
"hgvs_p": "p.Leu508Arg",
"transcript": "ENST00000919948.1",
"protein_id": "ENSP00000590007.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 906,
"cds_start": 1523,
"cds_end": null,
"cds_length": 2721,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919948.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
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],
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"dbsnp": "rs1057520196",
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"hom_count_reference_population": 0,
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"computational_score_selected": 0.9297134876251221,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.0860000029206276,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.538,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.929,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.278,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.0148795546116104,
"dbscsnv_ada_prediction": "Benign",
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"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3_Moderate",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_152438.2",
"gene_symbol": "DDX11",
"hgnc_id": 2736,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1523T>G",
"hgvs_p": "p.Leu508Arg"
}
],
"clinvar_disease": "Inborn genetic diseases,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not provided|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}