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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: 12-31091784-GCAGGAC-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=31091784&ref=GCAGGAC&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 31091784,
"ref": "GCAGGAC",
"alt": "G",
"effect": "disruptive_inframe_deletion",
"transcript": "NM_152438.2",
"consequences": [
{
"aa_ref": "DQV",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX11",
"gene_hgnc_id": 2736,
"hgvs_c": "c.1160_1165delACCAGG",
"hgvs_p": "p.Asp387_Gln388del",
"transcript": "NM_030653.4",
"protein_id": "NP_085911.2",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 906,
"cds_start": 1160,
"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": "DQV",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX11",
"gene_hgnc_id": 2736,
"hgvs_c": "c.1160_1165delACCAGG",
"hgvs_p": "p.Asp387_Gln388del",
"transcript": "ENST00000542838.6",
"protein_id": "ENSP00000443426.1",
"transcript_support_level": 1,
"aa_start": 387,
"aa_end": null,
"aa_length": 906,
"cds_start": 1160,
"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": "DQV",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX11",
"gene_hgnc_id": 2736,
"hgvs_c": "c.1160_1165delACCAGG",
"hgvs_p": "p.Asp387_Gln388del",
"transcript": "ENST00000545668.5",
"protein_id": "ENSP00000440402.1",
"transcript_support_level": 1,
"aa_start": 387,
"aa_end": null,
"aa_length": 970,
"cds_start": 1160,
"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": "DQV",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX11",
"gene_hgnc_id": 2736,
"hgvs_c": "c.1082_1087delACCAGG",
"hgvs_p": "p.Asp361_Gln362del",
"transcript": "ENST00000228264.10",
"protein_id": "ENSP00000228264.6",
"transcript_support_level": 1,
"aa_start": 361,
"aa_end": null,
"aa_length": 880,
"cds_start": 1082,
"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": "DQV",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX11",
"gene_hgnc_id": 2736,
"hgvs_c": "c.1160_1165delACCAGG",
"hgvs_p": "p.Asp387_Gln388del",
"transcript": "ENST00000350437.8",
"protein_id": "ENSP00000309965.5",
"transcript_support_level": 1,
"aa_start": 387,
"aa_end": null,
"aa_length": 856,
"cds_start": 1160,
"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": "DQV",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX11",
"gene_hgnc_id": 2736,
"hgvs_c": "c.1160_1165delACCAGG",
"hgvs_p": "p.Asp387_Gln388del",
"transcript": "NM_001257144.2",
"protein_id": "NP_001244073.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 970,
"cds_start": 1160,
"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": "DQV",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX11",
"gene_hgnc_id": 2736,
"hgvs_c": "c.1160_1165delACCAGG",
"hgvs_p": "p.Asp387_Gln388del",
"transcript": "NM_001413695.1",
"protein_id": "NP_001400624.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 970,
"cds_start": 1160,
"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": "DQV",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX11",
"gene_hgnc_id": 2736,
"hgvs_c": "c.1160_1165delACCAGG",
"hgvs_p": "p.Asp387_Gln388del",
"transcript": "NM_001413696.1",
"protein_id": "NP_001400625.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 970,
"cds_start": 1160,
"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": "DQV",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX11",
"gene_hgnc_id": 2736,
"hgvs_c": "c.1160_1165delACCAGG",
"hgvs_p": "p.Asp387_Gln388del",
"transcript": "NM_152438.2",
"protein_id": "NP_689651.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 970,
"cds_start": 1160,
"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": "DQV",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX11",
"gene_hgnc_id": 2736,
"hgvs_c": "c.1082_1087delACCAGG",
"hgvs_p": "p.Asp361_Gln362del",
"transcript": "NM_001413699.1",
"protein_id": "NP_001400628.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 944,
"cds_start": 1082,
"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": "DQV",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX11",
"gene_hgnc_id": 2736,
"hgvs_c": "c.1160_1165delACCAGG",
"hgvs_p": "p.Asp387_Gln388del",
"transcript": "ENST00000919962.1",
"protein_id": "ENSP00000590021.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 931,
"cds_start": 1160,
"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": "DQV",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX11",
"gene_hgnc_id": 2736,
"hgvs_c": "c.1160_1165delACCAGG",
"hgvs_p": "p.Asp387_Gln388del",
"transcript": "ENST00000950083.1",
"protein_id": "ENSP00000620142.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 931,
"cds_start": 1160,
"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": "DQV",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX11",
"gene_hgnc_id": 2736,
"hgvs_c": "c.1160_1165delACCAGG",
"hgvs_p": "p.Asp387_Gln388del",
"transcript": "ENST00000950085.1",
"protein_id": "ENSP00000620144.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 931,
"cds_start": 1160,
"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": "DQV",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX11",
"gene_hgnc_id": 2736,
"hgvs_c": "c.1160_1165delACCAGG",
"hgvs_p": "p.Asp387_Gln388del",
"transcript": "ENST00000879107.1",
"protein_id": "ENSP00000549166.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 918,
"cds_start": 1160,
"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": "DQV",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX11",
"gene_hgnc_id": 2736,
"hgvs_c": "c.1160_1165delACCAGG",
"hgvs_p": "p.Asp387_Gln388del",
"transcript": "NM_001413692.1",
"protein_id": "NP_001400621.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 906,
"cds_start": 1160,
"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": "DQV",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX11",
"gene_hgnc_id": 2736,
"hgvs_c": "c.1160_1165delACCAGG",
"hgvs_p": "p.Asp387_Gln388del",
"transcript": "NM_001413693.1",
"protein_id": "NP_001400622.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 906,
"cds_start": 1160,
"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": "DQV",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX11",
"gene_hgnc_id": 2736,
"hgvs_c": "c.1160_1165delACCAGG",
"hgvs_p": "p.Asp387_Gln388del",
"transcript": "NM_001413694.1",
"protein_id": "NP_001400623.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 906,
"cds_start": 1160,
"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": "DQV",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX11",
"gene_hgnc_id": 2736,
"hgvs_c": "c.1160_1165delACCAGG",
"hgvs_p": "p.Asp387_Gln388del",
"transcript": "ENST00000879106.1",
"protein_id": "ENSP00000549165.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 906,
"cds_start": 1160,
"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": "DQV",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX11",
"gene_hgnc_id": 2736,
"hgvs_c": "c.1160_1165delACCAGG",
"hgvs_p": "p.Asp387_Gln388del",
"transcript": "ENST00000879108.1",
"protein_id": "ENSP00000549167.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 906,
"cds_start": 1160,
"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": "DQV",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX11",
"gene_hgnc_id": 2736,
"hgvs_c": "c.1160_1165delACCAGG",
"hgvs_p": "p.Asp387_Gln388del",
"transcript": "ENST00000919947.1",
"protein_id": "ENSP00000590006.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 906,
"cds_start": 1160,
"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": "DQV",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX11",
"gene_hgnc_id": 2736,
"hgvs_c": "c.1160_1165delACCAGG",
"hgvs_p": "p.Asp387_Gln388del",
"transcript": "ENST00000919948.1",
"protein_id": "ENSP00000590007.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 906,
"cds_start": 1160,
"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": "DQV",
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"gene_symbol": "DDX11",
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"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 9.078,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PM4,PP3",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM2",
"PM4",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_152438.2",
"gene_symbol": "DDX11",
"hgnc_id": 2736,
"effects": [
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],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1160_1165delACCAGG",
"hgvs_p": "p.Asp387_Gln388del"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}