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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: 20-32704472-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=32704472&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 32704472,
"ref": "C",
"alt": "A",
"effect": "stop_gained",
"transcript": "NM_053041.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMMD7",
"gene_hgnc_id": 16223,
"hgvs_c": "c.445G>T",
"hgvs_p": "p.Glu149*",
"transcript": "NM_053041.3",
"protein_id": "NP_444269.2",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 200,
"cds_start": 445,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000278980.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_053041.3"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMMD7",
"gene_hgnc_id": 16223,
"hgvs_c": "c.445G>T",
"hgvs_p": "p.Glu149*",
"transcript": "ENST00000278980.11",
"protein_id": "ENSP00000278980.6",
"transcript_support_level": 1,
"aa_start": 149,
"aa_end": null,
"aa_length": 200,
"cds_start": 445,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_053041.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000278980.11"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285382",
"gene_hgnc_id": null,
"hgvs_c": "c.445G>T",
"hgvs_p": "p.Glu149*",
"transcript": "ENST00000646357.1",
"protein_id": "ENSP00000493768.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 272,
"cds_start": 445,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646357.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMMD7",
"gene_hgnc_id": 16223,
"hgvs_c": "c.445G>T",
"hgvs_p": "p.Glu149*",
"transcript": "ENST00000855720.1",
"protein_id": "ENSP00000525779.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 226,
"cds_start": 445,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855720.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMMD7",
"gene_hgnc_id": 16223,
"hgvs_c": "c.520G>T",
"hgvs_p": "p.Glu174*",
"transcript": "ENST00000855718.1",
"protein_id": "ENSP00000525777.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 225,
"cds_start": 520,
"cds_end": null,
"cds_length": 678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855718.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMMD7",
"gene_hgnc_id": 16223,
"hgvs_c": "c.517G>T",
"hgvs_p": "p.Glu173*",
"transcript": "ENST00000941360.1",
"protein_id": "ENSP00000611419.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 224,
"cds_start": 517,
"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": "ENST00000941360.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285382",
"gene_hgnc_id": null,
"hgvs_c": "c.445G>T",
"hgvs_p": "p.Glu149*",
"transcript": "ENST00000642484.1",
"protein_id": "ENSP00000496538.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 211,
"cds_start": 445,
"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": "ENST00000642484.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMMD7",
"gene_hgnc_id": 16223,
"hgvs_c": "c.472G>T",
"hgvs_p": "p.Glu158*",
"transcript": "ENST00000855717.1",
"protein_id": "ENSP00000525776.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 209,
"cds_start": 472,
"cds_end": null,
"cds_length": 630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855717.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMMD7",
"gene_hgnc_id": 16223,
"hgvs_c": "c.442G>T",
"hgvs_p": "p.Glu148*",
"transcript": "NM_001099339.2",
"protein_id": "NP_001092809.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 199,
"cds_start": 442,
"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": "NM_001099339.2"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMMD7",
"gene_hgnc_id": 16223,
"hgvs_c": "c.442G>T",
"hgvs_p": "p.Glu148*",
"transcript": "ENST00000446419.6",
"protein_id": "ENSP00000395339.1",
"transcript_support_level": 2,
"aa_start": 148,
"aa_end": null,
"aa_length": 199,
"cds_start": 442,
"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": "ENST00000446419.6"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMMD7",
"gene_hgnc_id": 16223,
"hgvs_c": "c.442G>T",
"hgvs_p": "p.Glu148*",
"transcript": "ENST00000941361.1",
"protein_id": "ENSP00000611420.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 199,
"cds_start": 442,
"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": "ENST00000941361.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMMD7",
"gene_hgnc_id": 16223,
"hgvs_c": "c.436G>T",
"hgvs_p": "p.Glu146*",
"transcript": "ENST00000934209.1",
"protein_id": "ENSP00000604268.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 197,
"cds_start": 436,
"cds_end": null,
"cds_length": 594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934209.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMMD7",
"gene_hgnc_id": 16223,
"hgvs_c": "c.391G>T",
"hgvs_p": "p.Glu131*",
"transcript": "ENST00000855715.1",
"protein_id": "ENSP00000525774.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 182,
"cds_start": 391,
"cds_end": null,
"cds_length": 549,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855715.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMMD7",
"gene_hgnc_id": 16223,
"hgvs_c": "c.445G>T",
"hgvs_p": "p.Glu149*",
"transcript": "ENST00000855721.1",
"protein_id": "ENSP00000525780.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 178,
"cds_start": 445,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855721.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMMD7",
"gene_hgnc_id": 16223,
"hgvs_c": "c.445G>T",
"hgvs_p": "p.Glu149*",
"transcript": "XM_005260299.5",
"protein_id": "XP_005260356.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 242,
"cds_start": 445,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005260299.5"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMMD7",
"gene_hgnc_id": 16223,
"hgvs_c": "c.442G>T",
"hgvs_p": "p.Glu148*",
"transcript": "XM_005260300.5",
"protein_id": "XP_005260357.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 241,
"cds_start": 442,
"cds_end": null,
"cds_length": 726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005260300.5"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMMD7",
"gene_hgnc_id": 16223,
"hgvs_c": "c.445G>T",
"hgvs_p": "p.Glu149*",
"transcript": "XM_011528604.4",
"protein_id": "XP_011526906.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 190,
"cds_start": 445,
"cds_end": null,
"cds_length": 573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011528604.4"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMMD7",
"gene_hgnc_id": 16223,
"hgvs_c": "c.442G>T",
"hgvs_p": "p.Glu148*",
"transcript": "XM_017027685.3",
"protein_id": "XP_016883174.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 189,
"cds_start": 442,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017027685.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "COMMD7",
"gene_hgnc_id": 16223,
"hgvs_c": "c.337-401G>T",
"hgvs_p": null,
"transcript": "ENST00000855716.1",
"protein_id": "ENSP00000525775.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 153,
"cds_start": null,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855716.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "COMMD7",
"gene_hgnc_id": 16223,
"hgvs_c": "c.334-401G>T",
"hgvs_p": null,
"transcript": "ENST00000855714.1",
"protein_id": "ENSP00000525773.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 152,
"cds_start": null,
"cds_end": null,
"cds_length": 459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855714.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "COMMD7",
"gene_hgnc_id": 16223,
"hgvs_c": "c.283-401G>T",
"hgvs_p": null,
"transcript": "ENST00000855719.1",
"protein_id": "ENSP00000525778.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 135,
"cds_start": null,
"cds_end": null,
"cds_length": 408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855719.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "COMMD7",
"gene_hgnc_id": 16223,
"hgvs_c": "c.337-401G>T",
"hgvs_p": null,
"transcript": "XM_017027686.3",
"protein_id": "XP_016883175.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 153,
"cds_start": null,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017027686.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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{
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],
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"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
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"gnomad_exomes_ac": 1,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
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"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.62,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.557,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
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"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
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"effects": [
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"inheritance_mode": "AR",
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{
"score": 2,
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"verdict": "Uncertain_significance",
"transcript": "ENST00000646357.1",
"gene_symbol": "ENSG00000285382",
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"effects": [
"stop_gained"
],
"inheritance_mode": "",
"hgvs_c": "c.445G>T",
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}