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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: 16-31110716-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=31110716&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PM5"
],
"effects": [
"missense_variant"
],
"gene_symbol": "BCKDK",
"hgnc_id": 16902,
"hgvs_c": "c.671G>A",
"hgvs_p": "p.Arg224His",
"inheritance_mode": "AR",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_005881.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PM5",
"acmg_score": 4,
"allele_count_reference_population": 7,
"alphamissense_prediction": null,
"alphamissense_score": 0.1766,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.05,
"chr": "16",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.6944479942321777,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 412,
"aa_ref": "R",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2036,
"cdna_start": 942,
"cds_end": null,
"cds_length": 1239,
"cds_start": 671,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_005881.4",
"gene_hgnc_id": 16902,
"gene_symbol": "BCKDK",
"hgvs_c": "c.671G>A",
"hgvs_p": "p.Arg224His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000219794.11",
"protein_coding": true,
"protein_id": "NP_005872.2",
"strand": true,
"transcript": "NM_005881.4",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 412,
"aa_ref": "R",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2036,
"cdna_start": 942,
"cds_end": null,
"cds_length": 1239,
"cds_start": 671,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000219794.11",
"gene_hgnc_id": 16902,
"gene_symbol": "BCKDK",
"hgvs_c": "c.671G>A",
"hgvs_p": "p.Arg224His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005881.4",
"protein_coding": true,
"protein_id": "ENSP00000219794.6",
"strand": true,
"transcript": "ENST00000219794.11",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 335,
"aa_ref": "R",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1907,
"cdna_start": 1034,
"cds_end": null,
"cds_length": 1008,
"cds_start": 671,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000287507.7",
"gene_hgnc_id": 16902,
"gene_symbol": "BCKDK",
"hgvs_c": "c.671G>A",
"hgvs_p": "p.Arg224His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000287507.3",
"strand": true,
"transcript": "ENST00000287507.7",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 412,
"aa_ref": "R",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2164,
"cdna_start": 1294,
"cds_end": null,
"cds_length": 1239,
"cds_start": 671,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000394951.5",
"gene_hgnc_id": 16902,
"gene_symbol": "BCKDK",
"hgvs_c": "c.671G>A",
"hgvs_p": "p.Arg224His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000378405.1",
"strand": true,
"transcript": "ENST00000394951.5",
"transcript_support_level": 5
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 412,
"aa_ref": "R",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1802,
"cdna_start": 940,
"cds_end": null,
"cds_length": 1239,
"cds_start": 671,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000913319.1",
"gene_hgnc_id": 16902,
"gene_symbol": "BCKDK",
"hgvs_c": "c.671G>A",
"hgvs_p": "p.Arg224His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583378.1",
"strand": true,
"transcript": "ENST00000913319.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 411,
"aa_ref": "R",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1789,
"cdna_start": 919,
"cds_end": null,
"cds_length": 1236,
"cds_start": 668,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000859437.1",
"gene_hgnc_id": 16902,
"gene_symbol": "BCKDK",
"hgvs_c": "c.668G>A",
"hgvs_p": "p.Arg223His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529496.1",
"strand": true,
"transcript": "ENST00000859437.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 410,
"aa_ref": "R",
"aa_start": 222,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1828,
"cdna_start": 925,
"cds_end": null,
"cds_length": 1233,
"cds_start": 665,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000859428.1",
"gene_hgnc_id": 16902,
"gene_symbol": "BCKDK",
"hgvs_c": "c.665G>A",
"hgvs_p": "p.Arg222His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529487.1",
"strand": true,
"transcript": "ENST00000859428.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 409,
"aa_ref": "R",
"aa_start": 221,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1801,
"cdna_start": 933,
"cds_end": null,
"cds_length": 1230,
"cds_start": 662,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000859430.1",
"gene_hgnc_id": 16902,
"gene_symbol": "BCKDK",
"hgvs_c": "c.662G>A",
"hgvs_p": "p.Arg221His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529489.1",
"strand": true,
"transcript": "ENST00000859430.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 408,
"aa_ref": "R",
"aa_start": 220,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1785,
"cdna_start": 916,
"cds_end": null,
"cds_length": 1227,
"cds_start": 659,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000950483.1",
"gene_hgnc_id": 16902,
"gene_symbol": "BCKDK",
"hgvs_c": "c.659G>A",
"hgvs_p": "p.Arg220His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620542.1",
"strand": true,
"transcript": "ENST00000950483.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 402,
"aa_ref": "R",
"aa_start": 214,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1972,
"cdna_start": 880,
"cds_end": null,
"cds_length": 1209,
"cds_start": 641,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000950482.1",
"gene_hgnc_id": 16902,
"gene_symbol": "BCKDK",
"hgvs_c": "c.641G>A",
"hgvs_p": "p.Arg214His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620541.1",
"strand": true,
"transcript": "ENST00000950482.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 395,
"aa_ref": "R",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1778,
"cdna_start": 877,
"cds_end": null,
"cds_length": 1188,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000859429.1",
"gene_hgnc_id": 16902,
"gene_symbol": "BCKDK",
"hgvs_c": "c.620G>A",
"hgvs_p": "p.Arg207His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529488.1",
"strand": true,
"transcript": "ENST00000859429.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 394,
"aa_ref": "R",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1743,
"cdna_start": 874,
"cds_end": null,
"cds_length": 1185,
"cds_start": 617,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000859433.1",
"gene_hgnc_id": 16902,
"gene_symbol": "BCKDK",
"hgvs_c": "c.617G>A",
"hgvs_p": "p.Arg206His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529492.1",
"strand": true,
"transcript": "ENST00000859433.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 382,
"aa_ref": "R",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1718,
"cdna_start": 939,
"cds_end": null,
"cds_length": 1149,
"cds_start": 671,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000859431.1",
"gene_hgnc_id": 16902,
"gene_symbol": "BCKDK",
"hgvs_c": "c.671G>A",
"hgvs_p": "p.Arg224His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529490.1",
"strand": true,
"transcript": "ENST00000859431.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 372,
"aa_ref": "R",
"aa_start": 184,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1673,
"cdna_start": 804,
"cds_end": null,
"cds_length": 1119,
"cds_start": 551,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000859434.1",
"gene_hgnc_id": 16902,
"gene_symbol": "BCKDK",
"hgvs_c": "c.551G>A",
"hgvs_p": "p.Arg184His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529493.1",
"strand": true,
"transcript": "ENST00000859434.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 369,
"aa_ref": "R",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1664,
"cdna_start": 924,
"cds_end": null,
"cds_length": 1110,
"cds_start": 671,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000859435.1",
"gene_hgnc_id": 16902,
"gene_symbol": "BCKDK",
"hgvs_c": "c.671G>A",
"hgvs_p": "p.Arg224His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529494.1",
"strand": true,
"transcript": "ENST00000859435.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 365,
"aa_ref": "R",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2176,
"cdna_start": 942,
"cds_end": null,
"cds_length": 1098,
"cds_start": 671,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001122957.4",
"gene_hgnc_id": 16902,
"gene_symbol": "BCKDK",
"hgvs_c": "c.671G>A",
"hgvs_p": "p.Arg224His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001116429.1",
"strand": true,
"transcript": "NM_001122957.4",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 365,
"aa_ref": "R",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1997,
"cdna_start": 1034,
"cds_end": null,
"cds_length": 1098,
"cds_start": 671,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000394950.7",
"gene_hgnc_id": 16902,
"gene_symbol": "BCKDK",
"hgvs_c": "c.671G>A",
"hgvs_p": "p.Arg224His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000378404.3",
"strand": true,
"transcript": "ENST00000394950.7",
"transcript_support_level": 2
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 335,
"aa_ref": "R",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2086,
"cdna_start": 942,
"cds_end": null,
"cds_length": 1008,
"cds_start": 671,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001271926.3",
"gene_hgnc_id": 16902,
"gene_symbol": "BCKDK",
"hgvs_c": "c.671G>A",
"hgvs_p": "p.Arg224His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001258855.1",
"strand": true,
"transcript": "NM_001271926.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 215,
"aa_ref": "R",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 754,
"cdna_start": 748,
"cds_end": null,
"cds_length": 650,
"cds_start": 644,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000484226.2",
"gene_hgnc_id": 16902,
"gene_symbol": "BCKDK",
"hgvs_c": "c.644G>A",
"hgvs_p": "p.Arg215His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000457226.1",
"strand": true,
"transcript": "ENST00000484226.2",
"transcript_support_level": 3
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 410,
"aa_ref": "R",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1543,
"cdna_start": 942,
"cds_end": null,
"cds_length": 1233,
"cds_start": 671,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_017022859.2",
"gene_hgnc_id": 16902,
"gene_symbol": "BCKDK",
"hgvs_c": "c.671G>A",
"hgvs_p": "p.Arg224His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016878348.1",
"strand": true,
"transcript": "XM_017022859.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 398,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1766,
"cdna_start": null,
"cds_end": null,
"cds_length": 1197,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000859432.1",
"gene_hgnc_id": 16902,
"gene_symbol": "BCKDK",
"hgvs_c": "c.643-14G>A",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
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}