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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: 1-155325175-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=155325175&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "RUSC1",
"hgnc_id": 17153,
"hgvs_c": "c.1530G>T",
"hgvs_p": "p.Gln510His",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_001105203.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.9615,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.33,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.3095950186252594,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 902,
"aa_ref": "Q",
"aa_start": 510,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3436,
"cdna_start": 1714,
"cds_end": null,
"cds_length": 2709,
"cds_start": 1530,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001105203.2",
"gene_hgnc_id": 17153,
"gene_symbol": "RUSC1",
"hgvs_c": "c.1530G>T",
"hgvs_p": "p.Gln510His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000368352.10",
"protein_coding": true,
"protein_id": "NP_001098673.1",
"strand": true,
"transcript": "NM_001105203.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 902,
"aa_ref": "Q",
"aa_start": 510,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3436,
"cdna_start": 1714,
"cds_end": null,
"cds_length": 2709,
"cds_start": 1530,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000368352.10",
"gene_hgnc_id": 17153,
"gene_symbol": "RUSC1",
"hgvs_c": "c.1530G>T",
"hgvs_p": "p.Gln510His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001105203.2",
"protein_coding": true,
"protein_id": "ENSP00000357336.5",
"strand": true,
"transcript": "ENST00000368352.10",
"transcript_support_level": 2
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 492,
"aa_ref": "Q",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2503,
"cdna_start": 781,
"cds_end": null,
"cds_length": 1479,
"cds_start": 300,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000368347.8",
"gene_hgnc_id": 17153,
"gene_symbol": "RUSC1",
"hgvs_c": "c.300G>T",
"hgvs_p": "p.Gln100His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000357331.4",
"strand": true,
"transcript": "ENST00000368347.8",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 433,
"aa_ref": "Q",
"aa_start": 41,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2163,
"cdna_start": 441,
"cds_end": null,
"cds_length": 1302,
"cds_start": 123,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000292254.8",
"gene_hgnc_id": 17153,
"gene_symbol": "RUSC1",
"hgvs_c": "c.123G>T",
"hgvs_p": "p.Gln41His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000292254.4",
"strand": true,
"transcript": "ENST00000292254.8",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 433,
"aa_ref": "Q",
"aa_start": 41,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1968,
"cdna_start": 248,
"cds_end": null,
"cds_length": 1302,
"cds_start": 123,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000368349.8",
"gene_hgnc_id": 17153,
"gene_symbol": "RUSC1",
"hgvs_c": "c.123G>T",
"hgvs_p": "p.Gln41His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000357333.4",
"strand": true,
"transcript": "ENST00000368349.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 211,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1700,
"cdna_start": null,
"cds_end": null,
"cds_length": 636,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000490373.5",
"gene_hgnc_id": 17153,
"gene_symbol": "RUSC1",
"hgvs_c": "c.-544G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000484026.1",
"strand": true,
"transcript": "ENST00000490373.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 127,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1749,
"cdna_start": null,
"cds_end": null,
"cds_length": 384,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000471876.5",
"gene_hgnc_id": 17153,
"gene_symbol": "RUSC1",
"hgvs_c": "c.-478G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000482409.1",
"strand": true,
"transcript": "ENST00000471876.5",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1039,
"aa_ref": "Q",
"aa_start": 647,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3847,
"cdna_start": 2125,
"cds_end": null,
"cds_length": 3120,
"cds_start": 1941,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000696599.1",
"gene_hgnc_id": 17153,
"gene_symbol": "RUSC1",
"hgvs_c": "c.1941G>T",
"hgvs_p": "p.Gln647His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512744.1",
"strand": true,
"transcript": "ENST00000696599.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 997,
"aa_ref": "Q",
"aa_start": 647,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3694,
"cdna_start": 2098,
"cds_end": null,
"cds_length": 2994,
"cds_start": 1941,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000878375.1",
"gene_hgnc_id": 17153,
"gene_symbol": "RUSC1",
"hgvs_c": "c.1941G>T",
"hgvs_p": "p.Gln647His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548434.1",
"strand": true,
"transcript": "ENST00000878375.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 902,
"aa_ref": "Q",
"aa_start": 510,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3404,
"cdna_start": 1678,
"cds_end": null,
"cds_length": 2709,
"cds_start": 1530,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000878373.1",
"gene_hgnc_id": 17153,
"gene_symbol": "RUSC1",
"hgvs_c": "c.1530G>T",
"hgvs_p": "p.Gln510His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548432.1",
"strand": true,
"transcript": "ENST00000878373.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 902,
"aa_ref": "Q",
"aa_start": 510,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4151,
"cdna_start": 2429,
"cds_end": null,
"cds_length": 2709,
"cds_start": 1530,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000878374.1",
"gene_hgnc_id": 17153,
"gene_symbol": "RUSC1",
"hgvs_c": "c.1530G>T",
"hgvs_p": "p.Gln510His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548433.1",
"strand": true,
"transcript": "ENST00000878374.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 902,
"aa_ref": "Q",
"aa_start": 510,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3380,
"cdna_start": 1654,
"cds_end": null,
"cds_length": 2709,
"cds_start": 1530,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000925571.1",
"gene_hgnc_id": 17153,
"gene_symbol": "RUSC1",
"hgvs_c": "c.1530G>T",
"hgvs_p": "p.Gln510His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595630.1",
"strand": true,
"transcript": "ENST00000925571.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_ref": "Q",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3439,
"cdna_start": 1720,
"cds_end": null,
"cds_length": 2709,
"cds_start": 1530,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000955292.1",
"gene_hgnc_id": 17153,
"gene_symbol": "RUSC1",
"hgvs_c": "c.1530G>T",
"hgvs_p": "p.Gln510His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625351.1",
"strand": true,
"transcript": "ENST00000955292.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 860,
"aa_ref": "Q",
"aa_start": 510,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3280,
"cdna_start": 1684,
"cds_end": null,
"cds_length": 2583,
"cds_start": 1530,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000878376.1",
"gene_hgnc_id": 17153,
"gene_symbol": "RUSC1",
"hgvs_c": "c.1530G>T",
"hgvs_p": "p.Gln510His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548435.1",
"strand": true,
"transcript": "ENST00000878376.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_ref": "Q",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3323,
"cdna_start": 1730,
"cds_end": null,
"cds_length": 2583,
"cds_start": 1530,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000878377.1",
"gene_hgnc_id": 17153,
"gene_symbol": "RUSC1",
"hgvs_c": "c.1530G>T",
"hgvs_p": "p.Gln510His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548436.1",
"strand": true,
"transcript": "ENST00000878377.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 796,
"aa_ref": "Q",
"aa_start": 510,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3118,
"cdna_start": 1714,
"cds_end": null,
"cds_length": 2391,
"cds_start": 1530,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001105204.2",
"gene_hgnc_id": 17153,
"gene_symbol": "RUSC1",
"hgvs_c": "c.1530G>T",
"hgvs_p": "p.Gln510His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001098674.1",
"strand": true,
"transcript": "NM_001105204.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 796,
"aa_ref": "Q",
"aa_start": 510,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3114,
"cdna_start": 1712,
"cds_end": null,
"cds_length": 2391,
"cds_start": 1530,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000368354.7",
"gene_hgnc_id": 17153,
"gene_symbol": "RUSC1",
"hgvs_c": "c.1530G>T",
"hgvs_p": "p.Gln510His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000357338.3",
"strand": true,
"transcript": "ENST00000368354.7",
"transcript_support_level": 2
},
{
"aa_alt": "H",
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"aa_length": 492,
"aa_ref": "Q",
"aa_start": 100,
"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 2507,
"cdna_start": 781,
"cds_end": null,
"cds_length": 1479,
"cds_start": 300,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001105205.1",
"gene_hgnc_id": 17153,
"gene_symbol": "RUSC1",
"hgvs_c": "c.300G>T",
"hgvs_p": "p.Gln100His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001098675.1",
"strand": true,
"transcript": "NM_001105205.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 433,
"aa_ref": "Q",
"aa_start": 41,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2233,
"cdna_start": 511,
"cds_end": null,
"cds_length": 1302,
"cds_start": 123,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001278230.2",
"gene_hgnc_id": 17153,
"gene_symbol": "RUSC1",
"hgvs_c": "c.123G>T",
"hgvs_p": "p.Gln41His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001265159.1",
"strand": true,
"transcript": "NM_001278230.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 433,
"aa_ref": "Q",
"aa_start": 41,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2550,
"cdna_start": 824,
"cds_end": null,
"cds_length": 1302,
"cds_start": 123,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_014328.4",
"gene_hgnc_id": 17153,
"gene_symbol": "RUSC1",
"hgvs_c": "c.123G>T",
"hgvs_p": "p.Gln41His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_055143.2",
"strand": true,
"transcript": "NM_014328.4",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 400,
"aa_ref": "Q",
"aa_start": 41,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2451,
"cdna_start": 824,
"cds_end": null,
"cds_length": 1203,
"cds_start": 123,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001278227.1",
"gene_hgnc_id": 17153,
"gene_symbol": "RUSC1",
"hgvs_c": "c.123G>T",
"hgvs_p": "p.Gln41His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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