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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: X-154532969-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=154532969&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PS3",
"PM1",
"PP2",
"PP5",
"BP4",
"BS2_Supporting"
],
"effects": [
"missense_variant"
],
"gene_symbol": "G6PD",
"hgnc_id": 4057,
"hgvs_c": "c.1114C>T",
"hgvs_p": "p.Leu372Phe",
"inheritance_mode": "XL",
"pathogenic_score": 8,
"score": 6,
"transcript": "NM_000402.4",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PS3,PM1,PP2,PP5,BP4,BS2_Supporting",
"acmg_score": 6,
"allele_count_reference_population": 26,
"alphamissense_prediction": null,
"alphamissense_score": 0.251,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.61,
"chr": "X",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": " due to G6PD deficiency, nonspherocytic hemolytic, susceptibility to,Anemia,G6PD MAHIDOL-LIKE,G6PD deficiency,Malaria,not provided",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "P:3 LP:4 US:3",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.13903644680976868,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 515,
"aa_ref": "L",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2223,
"cdna_start": 1090,
"cds_end": null,
"cds_length": 1548,
"cds_start": 1024,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001360016.2",
"gene_hgnc_id": 4057,
"gene_symbol": "G6PD",
"hgvs_c": "c.1024C>T",
"hgvs_p": "p.Leu342Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000393562.10",
"protein_coding": true,
"protein_id": "NP_001346945.1",
"strand": false,
"transcript": "NM_001360016.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 515,
"aa_ref": "L",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2223,
"cdna_start": 1090,
"cds_end": null,
"cds_length": 1548,
"cds_start": 1024,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000393562.10",
"gene_hgnc_id": 4057,
"gene_symbol": "G6PD",
"hgvs_c": "c.1024C>T",
"hgvs_p": "p.Leu342Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001360016.2",
"protein_coding": true,
"protein_id": "ENSP00000377192.3",
"strand": false,
"transcript": "ENST00000393562.10",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 581,
"aa_ref": "L",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2142,
"cdna_start": 1090,
"cds_end": null,
"cds_length": 1746,
"cds_start": 1024,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000696421.1",
"gene_hgnc_id": 4057,
"gene_symbol": "G6PD",
"hgvs_c": "c.1024C>T",
"hgvs_p": "p.Leu342Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512616.1",
"strand": false,
"transcript": "ENST00000696421.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 561,
"aa_ref": "L",
"aa_start": 388,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1799,
"cdna_start": 1275,
"cds_end": null,
"cds_length": 1686,
"cds_start": 1162,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000369620.6",
"gene_hgnc_id": 4057,
"gene_symbol": "G6PD",
"hgvs_c": "c.1162C>T",
"hgvs_p": "p.Leu388Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000358633.2",
"strand": false,
"transcript": "ENST00000369620.6",
"transcript_support_level": 5
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 561,
"aa_ref": "L",
"aa_start": 388,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2350,
"cdna_start": 1217,
"cds_end": null,
"cds_length": 1686,
"cds_start": 1162,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000915896.1",
"gene_hgnc_id": 4057,
"gene_symbol": "G6PD",
"hgvs_c": "c.1162C>T",
"hgvs_p": "p.Leu388Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585955.1",
"strand": false,
"transcript": "ENST00000915896.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 545,
"aa_ref": "L",
"aa_start": 372,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2396,
"cdna_start": 1262,
"cds_end": null,
"cds_length": 1638,
"cds_start": 1114,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_000402.4",
"gene_hgnc_id": 4057,
"gene_symbol": "G6PD",
"hgvs_c": "c.1114C>T",
"hgvs_p": "p.Leu372Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_000393.4",
"strand": false,
"transcript": "NM_000402.4",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 516,
"aa_ref": "L",
"aa_start": 343,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2336,
"cdna_start": 1202,
"cds_end": null,
"cds_length": 1551,
"cds_start": 1027,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000439227.6",
"gene_hgnc_id": 4057,
"gene_symbol": "G6PD",
"hgvs_c": "c.1027C>T",
"hgvs_p": "p.Leu343Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000395599.2",
"strand": false,
"transcript": "ENST00000439227.6",
"transcript_support_level": 5
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 516,
"aa_ref": "L",
"aa_start": 343,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2285,
"cdna_start": 1152,
"cds_end": null,
"cds_length": 1551,
"cds_start": 1027,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000907454.1",
"gene_hgnc_id": 4057,
"gene_symbol": "G6PD",
"hgvs_c": "c.1027C>T",
"hgvs_p": "p.Leu343Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577513.1",
"strand": false,
"transcript": "ENST00000907454.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 516,
"aa_ref": "L",
"aa_start": 343,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2220,
"cdna_start": 1089,
"cds_end": null,
"cds_length": 1551,
"cds_start": 1027,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000915895.1",
"gene_hgnc_id": 4057,
"gene_symbol": "G6PD",
"hgvs_c": "c.1027C>T",
"hgvs_p": "p.Leu343Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585954.1",
"strand": false,
"transcript": "ENST00000915895.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 515,
"aa_ref": "L",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2267,
"cdna_start": 1134,
"cds_end": null,
"cds_length": 1548,
"cds_start": 1024,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001042351.3",
"gene_hgnc_id": 4057,
"gene_symbol": "G6PD",
"hgvs_c": "c.1024C>T",
"hgvs_p": "p.Leu342Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001035810.1",
"strand": false,
"transcript": "NM_001042351.3",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 515,
"aa_ref": "L",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2271,
"cdna_start": 1137,
"cds_end": null,
"cds_length": 1548,
"cds_start": 1024,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000393564.7",
"gene_hgnc_id": 4057,
"gene_symbol": "G6PD",
"hgvs_c": "c.1024C>T",
"hgvs_p": "p.Leu342Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000377194.2",
"strand": false,
"transcript": "ENST00000393564.7",
"transcript_support_level": 5
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 515,
"aa_ref": "L",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2359,
"cdna_start": 1233,
"cds_end": null,
"cds_length": 1548,
"cds_start": 1024,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000696429.1",
"gene_hgnc_id": 4057,
"gene_symbol": "G6PD",
"hgvs_c": "c.1024C>T",
"hgvs_p": "p.Leu342Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512624.1",
"strand": false,
"transcript": "ENST00000696429.1",
"transcript_support_level": null
},
{
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"aa_length": 515,
"aa_ref": "L",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2417,
"cdna_start": 1291,
"cds_end": null,
"cds_length": 1548,
"cds_start": 1024,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000696430.1",
"gene_hgnc_id": 4057,
"gene_symbol": "G6PD",
"hgvs_c": "c.1024C>T",
"hgvs_p": "p.Leu342Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512625.1",
"strand": false,
"transcript": "ENST00000696430.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 515,
"aa_ref": "L",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2257,
"cdna_start": 1124,
"cds_end": null,
"cds_length": 1548,
"cds_start": 1024,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000907455.1",
"gene_hgnc_id": 4057,
"gene_symbol": "G6PD",
"hgvs_c": "c.1024C>T",
"hgvs_p": "p.Leu342Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577514.1",
"strand": false,
"transcript": "ENST00000907455.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
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"aa_length": 515,
"aa_ref": "L",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2366,
"cdna_start": 1233,
"cds_end": null,
"cds_length": 1548,
"cds_start": 1024,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000907457.1",
"gene_hgnc_id": 4057,
"gene_symbol": "G6PD",
"hgvs_c": "c.1024C>T",
"hgvs_p": "p.Leu342Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577516.1",
"strand": false,
"transcript": "ENST00000907457.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 515,
"aa_ref": "L",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2776,
"cdna_start": 1643,
"cds_end": null,
"cds_length": 1548,
"cds_start": 1024,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000915897.1",
"gene_hgnc_id": 4057,
"gene_symbol": "G6PD",
"hgvs_c": "c.1024C>T",
"hgvs_p": "p.Leu342Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585956.1",
"strand": false,
"transcript": "ENST00000915897.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 513,
"aa_ref": "L",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2252,
"cdna_start": 1119,
"cds_end": null,
"cds_length": 1542,
"cds_start": 1018,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000968237.1",
"gene_hgnc_id": 4057,
"gene_symbol": "G6PD",
"hgvs_c": "c.1018C>T",
"hgvs_p": "p.Leu340Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638296.1",
"strand": false,
"transcript": "ENST00000968237.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
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"aa_ref": "L",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1995,
"cdna_start": 1090,
"cds_end": null,
"cds_length": 1476,
"cds_start": 1024,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000696420.1",
"gene_hgnc_id": 4057,
"gene_symbol": "G6PD",
"hgvs_c": "c.1024C>T",
"hgvs_p": "p.Leu342Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512615.1",
"strand": false,
"transcript": "ENST00000696420.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
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"aa_ref": "L",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2023,
"cdna_start": 890,
"cds_end": null,
"cds_length": 1413,
"cds_start": 889,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000696423.1",
"gene_hgnc_id": 4057,
"gene_symbol": "G6PD",
"hgvs_c": "c.889C>T",
"hgvs_p": "p.Leu297Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512618.1",
"strand": false,
"transcript": "ENST00000696423.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 469,
"aa_ref": "L",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2020,
"cdna_start": 887,
"cds_end": null,
"cds_length": 1410,
"cds_start": 886,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000696422.1",
"gene_hgnc_id": 4057,
"gene_symbol": "G6PD",
"hgvs_c": "c.886C>T",
"hgvs_p": "p.Leu296Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512617.1",
"strand": false,
"transcript": "ENST00000696422.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 462,
"aa_ref": "L",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2059,
"cdna_start": 927,
"cds_end": null,
"cds_length": 1389,
"cds_start": 865,
"consequences": [
"missense_variant"
],
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}