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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: 1-151365196-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=151365196&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SELENBP1",
"hgnc_id": 10719,
"hgvs_c": "c.1256T>C",
"hgvs_p": "p.Val419Ala",
"inheritance_mode": "AR,Unknown",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_001258289.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 34,
"alphamissense_prediction": null,
"alphamissense_score": 0.1421,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.26,
"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": 0.41242432594299316,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 472,
"aa_ref": "V",
"aa_start": 377,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1722,
"cdna_start": 1194,
"cds_end": null,
"cds_length": 1419,
"cds_start": 1130,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_003944.4",
"gene_hgnc_id": 10719,
"gene_symbol": "SELENBP1",
"hgvs_c": "c.1130T>C",
"hgvs_p": "p.Val377Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000368868.10",
"protein_coding": true,
"protein_id": "NP_003935.2",
"strand": false,
"transcript": "NM_003944.4",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 472,
"aa_ref": "V",
"aa_start": 377,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1722,
"cdna_start": 1194,
"cds_end": null,
"cds_length": 1419,
"cds_start": 1130,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000368868.10",
"gene_hgnc_id": 10719,
"gene_symbol": "SELENBP1",
"hgvs_c": "c.1130T>C",
"hgvs_p": "p.Val377Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003944.4",
"protein_coding": true,
"protein_id": "ENSP00000357861.5",
"strand": false,
"transcript": "ENST00000368868.10",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 514,
"aa_ref": "V",
"aa_start": 419,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1931,
"cdna_start": 1403,
"cds_end": null,
"cds_length": 1545,
"cds_start": 1256,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001258289.2",
"gene_hgnc_id": 10719,
"gene_symbol": "SELENBP1",
"hgvs_c": "c.1256T>C",
"hgvs_p": "p.Val419Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001245218.1",
"strand": false,
"transcript": "NM_001258289.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 514,
"aa_ref": "V",
"aa_start": 419,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1928,
"cdna_start": 1401,
"cds_end": null,
"cds_length": 1545,
"cds_start": 1256,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000426705.6",
"gene_hgnc_id": 10719,
"gene_symbol": "SELENBP1",
"hgvs_c": "c.1256T>C",
"hgvs_p": "p.Val419Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000397261.2",
"strand": false,
"transcript": "ENST00000426705.6",
"transcript_support_level": 2
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 502,
"aa_ref": "V",
"aa_start": 407,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1807,
"cdna_start": 1283,
"cds_end": null,
"cds_length": 1509,
"cds_start": 1220,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000896531.1",
"gene_hgnc_id": 10719,
"gene_symbol": "SELENBP1",
"hgvs_c": "c.1220T>C",
"hgvs_p": "p.Val407Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566590.1",
"strand": false,
"transcript": "ENST00000896531.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 497,
"aa_ref": "V",
"aa_start": 402,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1795,
"cdna_start": 1268,
"cds_end": null,
"cds_length": 1494,
"cds_start": 1205,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000966380.1",
"gene_hgnc_id": 10719,
"gene_symbol": "SELENBP1",
"hgvs_c": "c.1205T>C",
"hgvs_p": "p.Val402Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636439.1",
"strand": false,
"transcript": "ENST00000966380.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 493,
"aa_ref": "V",
"aa_start": 398,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1785,
"cdna_start": 1257,
"cds_end": null,
"cds_length": 1482,
"cds_start": 1193,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000896525.1",
"gene_hgnc_id": 10719,
"gene_symbol": "SELENBP1",
"hgvs_c": "c.1193T>C",
"hgvs_p": "p.Val398Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566584.1",
"strand": false,
"transcript": "ENST00000896525.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 492,
"aa_ref": "V",
"aa_start": 397,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1782,
"cdna_start": 1254,
"cds_end": null,
"cds_length": 1479,
"cds_start": 1190,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000896524.1",
"gene_hgnc_id": 10719,
"gene_symbol": "SELENBP1",
"hgvs_c": "c.1190T>C",
"hgvs_p": "p.Val397Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566583.1",
"strand": false,
"transcript": "ENST00000896524.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 480,
"aa_ref": "V",
"aa_start": 385,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1747,
"cdna_start": 1218,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1154,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000896523.1",
"gene_hgnc_id": 10719,
"gene_symbol": "SELENBP1",
"hgvs_c": "c.1154T>C",
"hgvs_p": "p.Val385Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566582.1",
"strand": false,
"transcript": "ENST00000896523.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 461,
"aa_ref": "V",
"aa_start": 366,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1702,
"cdna_start": 1172,
"cds_end": null,
"cds_length": 1386,
"cds_start": 1097,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000896522.1",
"gene_hgnc_id": 10719,
"gene_symbol": "SELENBP1",
"hgvs_c": "c.1097T>C",
"hgvs_p": "p.Val366Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566581.1",
"strand": false,
"transcript": "ENST00000896522.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 451,
"aa_ref": "V",
"aa_start": 356,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1656,
"cdna_start": 1126,
"cds_end": null,
"cds_length": 1356,
"cds_start": 1067,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000896529.1",
"gene_hgnc_id": 10719,
"gene_symbol": "SELENBP1",
"hgvs_c": "c.1067T>C",
"hgvs_p": "p.Val356Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566588.1",
"strand": false,
"transcript": "ENST00000896529.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 445,
"aa_ref": "V",
"aa_start": 350,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1639,
"cdna_start": 1112,
"cds_end": null,
"cds_length": 1338,
"cds_start": 1049,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000966379.1",
"gene_hgnc_id": 10719,
"gene_symbol": "SELENBP1",
"hgvs_c": "c.1049T>C",
"hgvs_p": "p.Val350Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636438.1",
"strand": false,
"transcript": "ENST00000966379.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 439,
"aa_ref": "V",
"aa_start": 377,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1618,
"cdna_start": 1194,
"cds_end": null,
"cds_length": 1320,
"cds_start": 1130,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000966381.1",
"gene_hgnc_id": 10719,
"gene_symbol": "SELENBP1",
"hgvs_c": "c.1130T>C",
"hgvs_p": "p.Val377Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636440.1",
"strand": false,
"transcript": "ENST00000966381.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 430,
"aa_ref": "V",
"aa_start": 335,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1587,
"cdna_start": 1068,
"cds_end": null,
"cds_length": 1293,
"cds_start": 1004,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000896533.1",
"gene_hgnc_id": 10719,
"gene_symbol": "SELENBP1",
"hgvs_c": "c.1004T>C",
"hgvs_p": "p.Val335Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566592.1",
"strand": false,
"transcript": "ENST00000896533.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 417,
"aa_ref": "V",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1548,
"cdna_start": 1027,
"cds_end": null,
"cds_length": 1254,
"cds_start": 965,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000966382.1",
"gene_hgnc_id": 10719,
"gene_symbol": "SELENBP1",
"hgvs_c": "c.965T>C",
"hgvs_p": "p.Val322Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636441.1",
"strand": false,
"transcript": "ENST00000966382.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 410,
"aa_ref": "V",
"aa_start": 315,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1536,
"cdna_start": 1008,
"cds_end": null,
"cds_length": 1233,
"cds_start": 944,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001258288.2",
"gene_hgnc_id": 10719,
"gene_symbol": "SELENBP1",
"hgvs_c": "c.944T>C",
"hgvs_p": "p.Val315Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001245217.1",
"strand": false,
"transcript": "NM_001258288.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 410,
"aa_ref": "V",
"aa_start": 315,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1530,
"cdna_start": 1003,
"cds_end": null,
"cds_length": 1233,
"cds_start": 944,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000447402.7",
"gene_hgnc_id": 10719,
"gene_symbol": "SELENBP1",
"hgvs_c": "c.944T>C",
"hgvs_p": "p.Val315Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000413960.3",
"strand": false,
"transcript": "ENST00000447402.7",
"transcript_support_level": 2
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 405,
"aa_ref": "V",
"aa_start": 310,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1520,
"cdna_start": 993,
"cds_end": null,
"cds_length": 1218,
"cds_start": 929,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000896526.1",
"gene_hgnc_id": 10719,
"gene_symbol": "SELENBP1",
"hgvs_c": "c.929T>C",
"hgvs_p": "p.Val310Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566585.1",
"strand": false,
"transcript": "ENST00000896526.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 386,
"aa_ref": "V",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1458,
"cdna_start": 936,
"cds_end": null,
"cds_length": 1161,
"cds_start": 872,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000896532.1",
"gene_hgnc_id": 10719,
"gene_symbol": "SELENBP1",
"hgvs_c": "c.872T>C",
"hgvs_p": "p.Val291Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566591.1",
"strand": false,
"transcript": "ENST00000896532.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 343,
"aa_ref": "V",
"aa_start": 248,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1235,
"cdna_start": 807,
"cds_end": null,
"cds_length": 1032,
"cds_start": 743,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000935724.1",
"gene_hgnc_id": 10719,
"gene_symbol": "SELENBP1",
"hgvs_c": "c.743T>C",
"hgvs_p": "p.Val248Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605783.1",
"strand": false,
"transcript": "ENST00000935724.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 343,
"aa_ref": "V",
"aa_start": 248,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1333,
"cdna_start": 807,
"cds_end": null,
"cds_length": 1032,
"cds_start": 743,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000966378.1",
"gene_hgnc_id": 10719,
"gene_symbol": "SELENBP1",
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