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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: 7-143268112-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=143268112&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "GSTK1",
"hgnc_id": 16906,
"hgvs_c": "c.727G>A",
"hgvs_p": "p.Val243Met",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001143679.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "TMEM139-AS1",
"hgnc_id": 40988,
"hgvs_c": "n.480-12691C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "NR_133932.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 101,
"alphamissense_prediction": null,
"alphamissense_score": 0.4048,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.16,
"chr": "7",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.659468948841095,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 226,
"aa_ref": "V",
"aa_start": 187,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1032,
"cdna_start": 632,
"cds_end": null,
"cds_length": 681,
"cds_start": 559,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_015917.3",
"gene_hgnc_id": 16906,
"gene_symbol": "GSTK1",
"hgvs_c": "c.559G>A",
"hgvs_p": "p.Val187Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000358406.10",
"protein_coding": true,
"protein_id": "NP_057001.1",
"strand": true,
"transcript": "NM_015917.3",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 226,
"aa_ref": "V",
"aa_start": 187,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1032,
"cdna_start": 632,
"cds_end": null,
"cds_length": 681,
"cds_start": 559,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000358406.10",
"gene_hgnc_id": 16906,
"gene_symbol": "GSTK1",
"hgvs_c": "c.559G>A",
"hgvs_p": "p.Val187Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015917.3",
"protein_coding": true,
"protein_id": "ENSP00000351181.5",
"strand": true,
"transcript": "ENST00000358406.10",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 282,
"aa_ref": "V",
"aa_start": 243,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1185,
"cdna_start": 785,
"cds_end": null,
"cds_length": 849,
"cds_start": 727,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000479303.1",
"gene_hgnc_id": 16906,
"gene_symbol": "GSTK1",
"hgvs_c": "c.727G>A",
"hgvs_p": "p.Val243Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000431049.1",
"strand": true,
"transcript": "ENST00000479303.1",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 282,
"aa_ref": "V",
"aa_start": 243,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1200,
"cdna_start": 800,
"cds_end": null,
"cds_length": 849,
"cds_start": 727,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001143679.2",
"gene_hgnc_id": 16906,
"gene_symbol": "GSTK1",
"hgvs_c": "c.727G>A",
"hgvs_p": "p.Val243Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001137151.1",
"strand": true,
"transcript": "NM_001143679.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 281,
"aa_ref": "V",
"aa_start": 243,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2918,
"cdna_start": 793,
"cds_end": null,
"cds_length": 846,
"cds_start": 727,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000881234.1",
"gene_hgnc_id": 16906,
"gene_symbol": "GSTK1",
"hgvs_c": "c.727G>A",
"hgvs_p": "p.Val243Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551293.1",
"strand": true,
"transcript": "ENST00000881234.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 281,
"aa_ref": "V",
"aa_start": 242,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1199,
"cdna_start": 797,
"cds_end": null,
"cds_length": 846,
"cds_start": 724,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000881239.1",
"gene_hgnc_id": 16906,
"gene_symbol": "GSTK1",
"hgvs_c": "c.724G>A",
"hgvs_p": "p.Val242Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551298.1",
"strand": true,
"transcript": "ENST00000881239.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 245,
"aa_ref": "V",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1119,
"cdna_start": 717,
"cds_end": null,
"cds_length": 738,
"cds_start": 616,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000881235.1",
"gene_hgnc_id": 16906,
"gene_symbol": "GSTK1",
"hgvs_c": "c.616G>A",
"hgvs_p": "p.Val206Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551294.1",
"strand": true,
"transcript": "ENST00000881235.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 245,
"aa_ref": "V",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1065,
"cdna_start": 671,
"cds_end": null,
"cds_length": 738,
"cds_start": 616,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000881241.1",
"gene_hgnc_id": 16906,
"gene_symbol": "GSTK1",
"hgvs_c": "c.616G>A",
"hgvs_p": "p.Val206Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551300.1",
"strand": true,
"transcript": "ENST00000881241.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 243,
"aa_ref": "V",
"aa_start": 204,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1030,
"cdna_start": 636,
"cds_end": null,
"cds_length": 732,
"cds_start": 610,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000881242.1",
"gene_hgnc_id": 16906,
"gene_symbol": "GSTK1",
"hgvs_c": "c.610G>A",
"hgvs_p": "p.Val204Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551301.1",
"strand": true,
"transcript": "ENST00000881242.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 239,
"aa_ref": "V",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1092,
"cdna_start": 690,
"cds_end": null,
"cds_length": 720,
"cds_start": 598,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000911357.1",
"gene_hgnc_id": 16906,
"gene_symbol": "GSTK1",
"hgvs_c": "c.598G>A",
"hgvs_p": "p.Val200Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581416.1",
"strand": true,
"transcript": "ENST00000911357.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 238,
"aa_ref": "V",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1044,
"cdna_start": 653,
"cds_end": null,
"cds_length": 717,
"cds_start": 598,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000881240.1",
"gene_hgnc_id": 16906,
"gene_symbol": "GSTK1",
"hgvs_c": "c.598G>A",
"hgvs_p": "p.Val200Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551299.1",
"strand": true,
"transcript": "ENST00000881240.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 225,
"aa_ref": "V",
"aa_start": 186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1051,
"cdna_start": 649,
"cds_end": null,
"cds_length": 678,
"cds_start": 556,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000881236.1",
"gene_hgnc_id": 16906,
"gene_symbol": "GSTK1",
"hgvs_c": "c.556G>A",
"hgvs_p": "p.Val186Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551295.1",
"strand": true,
"transcript": "ENST00000881236.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 225,
"aa_ref": "V",
"aa_start": 187,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1051,
"cdna_start": 652,
"cds_end": null,
"cds_length": 678,
"cds_start": 559,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000881237.1",
"gene_hgnc_id": 16906,
"gene_symbol": "GSTK1",
"hgvs_c": "c.559G>A",
"hgvs_p": "p.Val187Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551296.1",
"strand": true,
"transcript": "ENST00000881237.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 215,
"aa_ref": "V",
"aa_start": 176,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1013,
"cdna_start": 619,
"cds_end": null,
"cds_length": 648,
"cds_start": 526,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000881238.1",
"gene_hgnc_id": 16906,
"gene_symbol": "GSTK1",
"hgvs_c": "c.526G>A",
"hgvs_p": "p.Val176Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551297.1",
"strand": true,
"transcript": "ENST00000881238.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 215,
"aa_ref": "V",
"aa_start": 176,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 946,
"cdna_start": 552,
"cds_end": null,
"cds_length": 648,
"cds_start": 526,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000968446.1",
"gene_hgnc_id": 16906,
"gene_symbol": "GSTK1",
"hgvs_c": "c.526G>A",
"hgvs_p": "p.Val176Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638505.1",
"strand": true,
"transcript": "ENST00000968446.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 214,
"aa_ref": "V",
"aa_start": 175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 996,
"cdna_start": 596,
"cds_end": null,
"cds_length": 645,
"cds_start": 523,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001143680.2",
"gene_hgnc_id": 16906,
"gene_symbol": "GSTK1",
"hgvs_c": "c.523G>A",
"hgvs_p": "p.Val175Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001137152.1",
"strand": true,
"transcript": "NM_001143680.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 214,
"aa_ref": "V",
"aa_start": 175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 888,
"cdna_start": 608,
"cds_end": null,
"cds_length": 645,
"cds_start": 523,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000409500.7",
"gene_hgnc_id": 16906,
"gene_symbol": "GSTK1",
"hgvs_c": "c.523G>A",
"hgvs_p": "p.Val175Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386944.3",
"strand": true,
"transcript": "ENST00000409500.7",
"transcript_support_level": 2
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 210,
"aa_ref": "V",
"aa_start": 171,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2748,
"cdna_start": 590,
"cds_end": null,
"cds_length": 633,
"cds_start": 511,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000881233.1",
"gene_hgnc_id": 16906,
"gene_symbol": "GSTK1",
"hgvs_c": "c.511G>A",
"hgvs_p": "p.Val171Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551292.1",
"strand": true,
"transcript": "ENST00000881233.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 188,
"aa_ref": "V",
"aa_start": 149,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 881,
"cdna_start": 481,
"cds_end": null,
"cds_length": 567,
"cds_start": 445,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000968445.1",
"gene_hgnc_id": 16906,
"gene_symbol": "GSTK1",
"hgvs_c": "c.445G>A",
"hgvs_p": "p.Val149Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638504.1",
"strand": true,
"transcript": "ENST00000968445.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 183,
"aa_ref": "V",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 903,
"cdna_start": 503,
"cds_end": null,
"cds_length": 552,
"cds_start": 430,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001143681.2",
"gene_hgnc_id": 16906,
"gene_symbol": "GSTK1",
"hgvs_c": "c.430G>A",
"hgvs_p": "p.Val144Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001137153.1",
"strand": true,
"transcript": "NM_001143681.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 183,
"aa_ref": "V",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 850,
"cdna_start": 503,
"cds_end": null,
"cds_length": 552,
"cds_start": 430,
"consequences": [
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