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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: 5-138947383-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=138947383&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SIL1",
"hgnc_id": 24624,
"hgvs_c": "c.1120T>A",
"hgvs_p": "p.Trp374Arg",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_022464.5",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.0434,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.68,
"chr": "5",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.060145437717437744,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 461,
"aa_ref": "W",
"aa_start": 374,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1889,
"cdna_start": 1230,
"cds_end": null,
"cds_length": 1386,
"cds_start": 1120,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_022464.5",
"gene_hgnc_id": 24624,
"gene_symbol": "SIL1",
"hgvs_c": "c.1120T>A",
"hgvs_p": "p.Trp374Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000394817.7",
"protein_coding": true,
"protein_id": "NP_071909.1",
"strand": false,
"transcript": "NM_022464.5",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 461,
"aa_ref": "W",
"aa_start": 374,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1889,
"cdna_start": 1230,
"cds_end": null,
"cds_length": 1386,
"cds_start": 1120,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000394817.7",
"gene_hgnc_id": 24624,
"gene_symbol": "SIL1",
"hgvs_c": "c.1120T>A",
"hgvs_p": "p.Trp374Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_022464.5",
"protein_coding": true,
"protein_id": "ENSP00000378294.2",
"strand": false,
"transcript": "ENST00000394817.7",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 505,
"aa_ref": "W",
"aa_start": 418,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1756,
"cdna_start": 1362,
"cds_end": null,
"cds_length": 1518,
"cds_start": 1252,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000868003.1",
"gene_hgnc_id": 24624,
"gene_symbol": "SIL1",
"hgvs_c": "c.1252T>A",
"hgvs_p": "p.Trp418Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538062.1",
"strand": false,
"transcript": "ENST00000868003.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 504,
"aa_ref": "W",
"aa_start": 417,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1692,
"cdna_start": 1299,
"cds_end": null,
"cds_length": 1515,
"cds_start": 1249,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000868009.1",
"gene_hgnc_id": 24624,
"gene_symbol": "SIL1",
"hgvs_c": "c.1249T>A",
"hgvs_p": "p.Trp417Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538068.1",
"strand": false,
"transcript": "ENST00000868009.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 472,
"aa_ref": "W",
"aa_start": 385,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1596,
"cdna_start": 1203,
"cds_end": null,
"cds_length": 1419,
"cds_start": 1153,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000868008.1",
"gene_hgnc_id": 24624,
"gene_symbol": "SIL1",
"hgvs_c": "c.1153T>A",
"hgvs_p": "p.Trp385Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538067.1",
"strand": false,
"transcript": "ENST00000868008.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 468,
"aa_ref": "W",
"aa_start": 381,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1714,
"cdna_start": 1354,
"cds_end": null,
"cds_length": 1407,
"cds_start": 1141,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000509534.5",
"gene_hgnc_id": 24624,
"gene_symbol": "SIL1",
"hgvs_c": "c.1141T>A",
"hgvs_p": "p.Trp381Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000426858.1",
"strand": false,
"transcript": "ENST00000509534.5",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 461,
"aa_ref": "W",
"aa_start": 374,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1977,
"cdna_start": 1318,
"cds_end": null,
"cds_length": 1386,
"cds_start": 1120,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001037633.2",
"gene_hgnc_id": 24624,
"gene_symbol": "SIL1",
"hgvs_c": "c.1120T>A",
"hgvs_p": "p.Trp374Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001032722.1",
"strand": false,
"transcript": "NM_001037633.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 461,
"aa_ref": "W",
"aa_start": 374,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1895,
"cdna_start": 1266,
"cds_end": null,
"cds_length": 1386,
"cds_start": 1120,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000265195.9",
"gene_hgnc_id": 24624,
"gene_symbol": "SIL1",
"hgvs_c": "c.1120T>A",
"hgvs_p": "p.Trp374Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000265195.5",
"strand": false,
"transcript": "ENST00000265195.9",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 461,
"aa_ref": "W",
"aa_start": 374,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1810,
"cdna_start": 1416,
"cds_end": null,
"cds_length": 1386,
"cds_start": 1120,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000868002.1",
"gene_hgnc_id": 24624,
"gene_symbol": "SIL1",
"hgvs_c": "c.1120T>A",
"hgvs_p": "p.Trp374Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538061.1",
"strand": false,
"transcript": "ENST00000868002.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 461,
"aa_ref": "W",
"aa_start": 374,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1679,
"cdna_start": 1286,
"cds_end": null,
"cds_length": 1386,
"cds_start": 1120,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000868004.1",
"gene_hgnc_id": 24624,
"gene_symbol": "SIL1",
"hgvs_c": "c.1120T>A",
"hgvs_p": "p.Trp374Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538063.1",
"strand": false,
"transcript": "ENST00000868004.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 461,
"aa_ref": "W",
"aa_start": 374,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1785,
"cdna_start": 1391,
"cds_end": null,
"cds_length": 1386,
"cds_start": 1120,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000868005.1",
"gene_hgnc_id": 24624,
"gene_symbol": "SIL1",
"hgvs_c": "c.1120T>A",
"hgvs_p": "p.Trp374Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538064.1",
"strand": false,
"transcript": "ENST00000868005.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 461,
"aa_ref": "W",
"aa_start": 374,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1656,
"cdna_start": 1263,
"cds_end": null,
"cds_length": 1386,
"cds_start": 1120,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000868006.1",
"gene_hgnc_id": 24624,
"gene_symbol": "SIL1",
"hgvs_c": "c.1120T>A",
"hgvs_p": "p.Trp374Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538065.1",
"strand": false,
"transcript": "ENST00000868006.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 461,
"aa_ref": "W",
"aa_start": 374,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1796,
"cdna_start": 1402,
"cds_end": null,
"cds_length": 1386,
"cds_start": 1120,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000868007.1",
"gene_hgnc_id": 24624,
"gene_symbol": "SIL1",
"hgvs_c": "c.1120T>A",
"hgvs_p": "p.Trp374Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538066.1",
"strand": false,
"transcript": "ENST00000868007.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 461,
"aa_ref": "W",
"aa_start": 374,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1617,
"cdna_start": 1225,
"cds_end": null,
"cds_length": 1386,
"cds_start": 1120,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000868010.1",
"gene_hgnc_id": 24624,
"gene_symbol": "SIL1",
"hgvs_c": "c.1120T>A",
"hgvs_p": "p.Trp374Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538069.1",
"strand": false,
"transcript": "ENST00000868010.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 461,
"aa_ref": "W",
"aa_start": 374,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1621,
"cdna_start": 1228,
"cds_end": null,
"cds_length": 1386,
"cds_start": 1120,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000868011.1",
"gene_hgnc_id": 24624,
"gene_symbol": "SIL1",
"hgvs_c": "c.1120T>A",
"hgvs_p": "p.Trp374Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538070.1",
"strand": false,
"transcript": "ENST00000868011.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 461,
"aa_ref": "W",
"aa_start": 374,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2009,
"cdna_start": 1352,
"cds_end": null,
"cds_length": 1386,
"cds_start": 1120,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000948133.1",
"gene_hgnc_id": 24624,
"gene_symbol": "SIL1",
"hgvs_c": "c.1120T>A",
"hgvs_p": "p.Trp374Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618192.1",
"strand": false,
"transcript": "ENST00000948133.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 461,
"aa_ref": "W",
"aa_start": 374,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1933,
"cdna_start": 1540,
"cds_end": null,
"cds_length": 1386,
"cds_start": 1120,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000948134.1",
"gene_hgnc_id": 24624,
"gene_symbol": "SIL1",
"hgvs_c": "c.1120T>A",
"hgvs_p": "p.Trp374Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618193.1",
"strand": false,
"transcript": "ENST00000948134.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 461,
"aa_ref": "W",
"aa_start": 374,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1778,
"cdna_start": 1385,
"cds_end": null,
"cds_length": 1386,
"cds_start": 1120,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000948135.1",
"gene_hgnc_id": 24624,
"gene_symbol": "SIL1",
"hgvs_c": "c.1120T>A",
"hgvs_p": "p.Trp374Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618194.1",
"strand": false,
"transcript": "ENST00000948135.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 461,
"aa_ref": "W",
"aa_start": 374,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1990,
"cdna_start": 1597,
"cds_end": null,
"cds_length": 1386,
"cds_start": 1120,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000948136.1",
"gene_hgnc_id": 24624,
"gene_symbol": "SIL1",
"hgvs_c": "c.1120T>A",
"hgvs_p": "p.Trp374Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618195.1",
"strand": false,
"transcript": "ENST00000948136.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 461,
"aa_ref": "W",
"aa_start": 374,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1812,
"cdna_start": 1419,
"cds_end": null,
"cds_length": 1386,
"cds_start": 1120,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000948137.1",
"gene_hgnc_id": 24624,
"gene_symbol": "SIL1",
"hgvs_c": "c.1120T>A",
"hgvs_p": "p.Trp374Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618196.1",
"strand": false,
"transcript": "ENST00000948137.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 461,
"aa_ref": "W",
"aa_start": 374,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1654,
"cdna_start": 1261,
"cds_end": null,
"cds_length": 1386,
"cds_start": 1120,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000948140.1",
"gene_hgnc_id": 24624,
"gene_symbol": "SIL1",
"hgvs_c": "c.1120T>A",
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