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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: 1-54036672-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=54036672&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TMEM59",
"hgnc_id": 1239,
"hgvs_c": "c.757G>A",
"hgvs_p": "p.Val253Ile",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -2,
"transcript": "NM_001305043.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_score": -2,
"allele_count_reference_population": 61,
"alphamissense_prediction": null,
"alphamissense_score": 0.2188,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.09,
"chr": "1",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.09063008427619934,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 323,
"aa_ref": "V",
"aa_start": 252,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6457,
"cdna_start": 770,
"cds_end": null,
"cds_length": 972,
"cds_start": 754,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_004872.5",
"gene_hgnc_id": 1239,
"gene_symbol": "TMEM59",
"hgvs_c": "c.754G>A",
"hgvs_p": "p.Val252Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000234831.10",
"protein_coding": true,
"protein_id": "NP_004863.2",
"strand": false,
"transcript": "NM_004872.5",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 323,
"aa_ref": "V",
"aa_start": 252,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6457,
"cdna_start": 770,
"cds_end": null,
"cds_length": 972,
"cds_start": 754,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000234831.10",
"gene_hgnc_id": 1239,
"gene_symbol": "TMEM59",
"hgvs_c": "c.754G>A",
"hgvs_p": "p.Val252Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004872.5",
"protein_coding": true,
"protein_id": "ENSP00000234831.5",
"strand": false,
"transcript": "ENST00000234831.10",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 192,
"aa_ref": "V",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1911,
"cdna_start": 1206,
"cds_end": null,
"cds_length": 579,
"cds_start": 361,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000371348.5",
"gene_hgnc_id": 1239,
"gene_symbol": "TMEM59",
"hgvs_c": "c.361G>A",
"hgvs_p": "p.Val121Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000360399.1",
"strand": false,
"transcript": "ENST00000371348.5",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 363,
"aa_ref": "V",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1239,
"cdna_start": 890,
"cds_end": null,
"cds_length": 1092,
"cds_start": 874,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000864587.1",
"gene_hgnc_id": 1239,
"gene_symbol": "TMEM59",
"hgvs_c": "c.874G>A",
"hgvs_p": "p.Val292Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534646.1",
"strand": false,
"transcript": "ENST00000864587.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 362,
"aa_ref": "V",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1573,
"cdna_start": 884,
"cds_end": null,
"cds_length": 1089,
"cds_start": 871,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000864584.1",
"gene_hgnc_id": 1239,
"gene_symbol": "TMEM59",
"hgvs_c": "c.871G>A",
"hgvs_p": "p.Val291Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534643.1",
"strand": false,
"transcript": "ENST00000864584.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 345,
"aa_ref": "V",
"aa_start": 274,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1186,
"cdna_start": 836,
"cds_end": null,
"cds_length": 1038,
"cds_start": 820,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000864586.1",
"gene_hgnc_id": 1239,
"gene_symbol": "TMEM59",
"hgvs_c": "c.820G>A",
"hgvs_p": "p.Val274Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534645.1",
"strand": false,
"transcript": "ENST00000864586.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 335,
"aa_ref": "V",
"aa_start": 264,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1725,
"cdna_start": 1023,
"cds_end": null,
"cds_length": 1008,
"cds_start": 790,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000864582.1",
"gene_hgnc_id": 1239,
"gene_symbol": "TMEM59",
"hgvs_c": "c.790G>A",
"hgvs_p": "p.Val264Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534641.1",
"strand": false,
"transcript": "ENST00000864582.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 324,
"aa_ref": "V",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6460,
"cdna_start": 773,
"cds_end": null,
"cds_length": 975,
"cds_start": 757,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001305043.2",
"gene_hgnc_id": 1239,
"gene_symbol": "TMEM59",
"hgvs_c": "c.757G>A",
"hgvs_p": "p.Val253Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001291972.1",
"strand": false,
"transcript": "NM_001305043.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 324,
"aa_ref": "V",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6518,
"cdna_start": 843,
"cds_end": null,
"cds_length": 975,
"cds_start": 757,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000864578.1",
"gene_hgnc_id": 1239,
"gene_symbol": "TMEM59",
"hgvs_c": "c.757G>A",
"hgvs_p": "p.Val253Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534637.1",
"strand": false,
"transcript": "ENST00000864578.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 323,
"aa_ref": "V",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1692,
"cdna_start": 990,
"cds_end": null,
"cds_length": 972,
"cds_start": 757,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000864581.1",
"gene_hgnc_id": 1239,
"gene_symbol": "TMEM59",
"hgvs_c": "c.757G>A",
"hgvs_p": "p.Val253Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534640.1",
"strand": false,
"transcript": "ENST00000864581.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 322,
"aa_ref": "V",
"aa_start": 252,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1694,
"cdna_start": 992,
"cds_end": null,
"cds_length": 969,
"cds_start": 754,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000864580.1",
"gene_hgnc_id": 1239,
"gene_symbol": "TMEM59",
"hgvs_c": "c.754G>A",
"hgvs_p": "p.Val252Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534639.1",
"strand": false,
"transcript": "ENST00000864580.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 321,
"aa_ref": "V",
"aa_start": 250,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1534,
"cdna_start": 834,
"cds_end": null,
"cds_length": 966,
"cds_start": 748,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000864583.1",
"gene_hgnc_id": 1239,
"gene_symbol": "TMEM59",
"hgvs_c": "c.748G>A",
"hgvs_p": "p.Val250Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534642.1",
"strand": false,
"transcript": "ENST00000864583.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
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"aa_length": 319,
"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1104,
"cdna_start": 755,
"cds_end": null,
"cds_length": 960,
"cds_start": 742,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000864588.1",
"gene_hgnc_id": 1239,
"gene_symbol": "TMEM59",
"hgvs_c": "c.742G>A",
"hgvs_p": "p.Val248Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534647.1",
"strand": false,
"transcript": "ENST00000864588.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 284,
"aa_ref": "V",
"aa_start": 263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1074,
"cdna_start": 1004,
"cds_end": null,
"cds_length": 857,
"cds_start": 787,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000452421.5",
"gene_hgnc_id": 1239,
"gene_symbol": "TMEM59",
"hgvs_c": "c.787G>A",
"hgvs_p": "p.Val263Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000397772.1",
"strand": false,
"transcript": "ENST00000452421.5",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 270,
"aa_ref": "V",
"aa_start": 199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1553,
"cdna_start": 848,
"cds_end": null,
"cds_length": 813,
"cds_start": 595,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000864579.1",
"gene_hgnc_id": 1239,
"gene_symbol": "TMEM59",
"hgvs_c": "c.595G>A",
"hgvs_p": "p.Val199Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534638.1",
"strand": false,
"transcript": "ENST00000864579.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 257,
"aa_ref": "V",
"aa_start": 186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6259,
"cdna_start": 572,
"cds_end": null,
"cds_length": 774,
"cds_start": 556,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001305050.2",
"gene_hgnc_id": 1239,
"gene_symbol": "TMEM59",
"hgvs_c": "c.556G>A",
"hgvs_p": "p.Val186Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001291979.1",
"strand": false,
"transcript": "NM_001305050.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 206,
"aa_ref": "V",
"aa_start": 135,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 776,
"cdna_start": 427,
"cds_end": null,
"cds_length": 621,
"cds_start": 403,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000864585.1",
"gene_hgnc_id": 1239,
"gene_symbol": "TMEM59",
"hgvs_c": "c.403G>A",
"hgvs_p": "p.Val135Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534644.1",
"strand": false,
"transcript": "ENST00000864585.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
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"aa_length": 193,
"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6473,
"cdna_start": 786,
"cds_end": null,
"cds_length": 582,
"cds_start": 364,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001305049.1",
"gene_hgnc_id": 1239,
"gene_symbol": "TMEM59",
"hgvs_c": "c.364G>A",
"hgvs_p": "p.Val122Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001291978.1",
"strand": false,
"transcript": "NM_001305049.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 192,
"aa_ref": "V",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6470,
"cdna_start": 783,
"cds_end": null,
"cds_length": 579,
"cds_start": 361,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001305051.1",
"gene_hgnc_id": 1239,
"gene_symbol": "TMEM59",
"hgvs_c": "c.361G>A",
"hgvs_p": "p.Val121Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001291980.1",
"strand": false,
"transcript": "NM_001305051.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 192,
"aa_ref": "V",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6364,
"cdna_start": 677,
"cds_end": null,
"cds_length": 579,
"cds_start": 361,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001305052.1",
"gene_hgnc_id": 1239,
"gene_symbol": "TMEM59",
"hgvs_c": "c.361G>A",
"hgvs_p": "p.Val121Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001291981.1",
"strand": false,
"transcript": "NM_001305052.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 192,
"aa_ref": "V",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1116,
"cdna_start": 714,
"cds_end": null,
"cds_length": 579,
"cds_start": 361,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000371341.5",
"gene_hgnc_id": 1239,
"gene_symbol": "TMEM59",
"hgvs_c": "c.361G>A",
"hgvs_p": "p.Val121Ile",
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