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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: 22-39316911-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=39316911&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "RPL3",
"hgnc_id": 10332,
"hgvs_c": "c.366-70C>G",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_000967.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"upstream_gene_variant"
],
"gene_symbol": "SNORD139",
"hgnc_id": 50421,
"hgvs_c": "n.-15C>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "NR_000026.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.1265,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.4,
"chr": "22",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.4000000059604645,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 403,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1296,
"cdna_start": null,
"cds_end": null,
"cds_length": 1212,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_000967.4",
"gene_hgnc_id": 10332,
"gene_symbol": "RPL3",
"hgvs_c": "c.366-70C>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000216146.9",
"protein_coding": true,
"protein_id": "NP_000958.1",
"strand": false,
"transcript": "NM_000967.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 403,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1296,
"cdna_start": null,
"cds_end": null,
"cds_length": 1212,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000216146.9",
"gene_hgnc_id": 10332,
"gene_symbol": "RPL3",
"hgvs_c": "c.366-70C>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000967.4",
"protein_coding": true,
"protein_id": "ENSP00000346001.3",
"strand": false,
"transcript": "ENST00000216146.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 351,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1289,
"cdna_start": null,
"cds_end": null,
"cds_length": 1056,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000401609.5",
"gene_hgnc_id": 10332,
"gene_symbol": "RPL3",
"hgvs_c": "c.210-70C>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386101.1",
"strand": false,
"transcript": "ENST00000401609.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2108,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000465618.5",
"gene_hgnc_id": 10332,
"gene_symbol": "RPL3",
"hgvs_c": "n.1136C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000465618.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 429,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1374,
"cdna_start": null,
"cds_end": null,
"cds_length": 1290,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000926233.1",
"gene_hgnc_id": 10332,
"gene_symbol": "RPL3",
"hgvs_c": "c.366-70C>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596292.1",
"strand": false,
"transcript": "ENST00000926233.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 410,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1315,
"cdna_start": null,
"cds_end": null,
"cds_length": 1233,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000926234.1",
"gene_hgnc_id": 10332,
"gene_symbol": "RPL3",
"hgvs_c": "c.387-70C>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596293.1",
"strand": false,
"transcript": "ENST00000926234.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 406,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1303,
"cdna_start": null,
"cds_end": null,
"cds_length": 1221,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000871470.1",
"gene_hgnc_id": 10332,
"gene_symbol": "RPL3",
"hgvs_c": "c.366-70C>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541529.1",
"strand": false,
"transcript": "ENST00000871470.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 401,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1283,
"cdna_start": null,
"cds_end": null,
"cds_length": 1206,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000971220.1",
"gene_hgnc_id": 10332,
"gene_symbol": "RPL3",
"hgvs_c": "c.366-70C>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641279.1",
"strand": false,
"transcript": "ENST00000971220.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 400,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1284,
"cdna_start": null,
"cds_end": null,
"cds_length": 1203,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000871474.1",
"gene_hgnc_id": 10332,
"gene_symbol": "RPL3",
"hgvs_c": "c.366-70C>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541533.1",
"strand": false,
"transcript": "ENST00000871474.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 399,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1277,
"cdna_start": null,
"cds_end": null,
"cds_length": 1200,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000871477.1",
"gene_hgnc_id": 10332,
"gene_symbol": "RPL3",
"hgvs_c": "c.366-70C>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541536.1",
"strand": false,
"transcript": "ENST00000871477.1",
"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": 1276,
"cdna_start": null,
"cds_end": null,
"cds_length": 1197,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000871476.1",
"gene_hgnc_id": 10332,
"gene_symbol": "RPL3",
"hgvs_c": "c.366-70C>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541535.1",
"strand": false,
"transcript": "ENST00000871476.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1330,
"cdna_start": null,
"cds_end": null,
"cds_length": 1194,
"cds_start": null,
"consequences": [
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],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000926227.1",
"gene_hgnc_id": 10332,
"gene_symbol": "RPL3",
"hgvs_c": "c.366-70C>G",
"hgvs_p": null,
"intron_rank": 3,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596286.1",
"strand": false,
"transcript": "ENST00000926227.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cds_end": null,
"cds_length": 1188,
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"consequences": [
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],
"exon_count": 10,
"exon_rank": null,
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"feature": "ENST00000871471.1",
"gene_hgnc_id": 10332,
"gene_symbol": "RPL3",
"hgvs_c": "c.366-70C>G",
"hgvs_p": null,
"intron_rank": 3,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541530.1",
"strand": false,
"transcript": "ENST00000871471.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1269,
"cdna_start": null,
"cds_end": null,
"cds_length": 1185,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
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"feature": "ENST00000871469.1",
"gene_hgnc_id": 10332,
"gene_symbol": "RPL3",
"hgvs_c": "c.366-70C>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000541528.1",
"strand": false,
"transcript": "ENST00000871469.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000926230.1",
"gene_hgnc_id": 10332,
"gene_symbol": "RPL3",
"hgvs_c": "c.324-70C>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596289.1",
"strand": false,
"transcript": "ENST00000926230.1",
"transcript_support_level": null
},
{
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"aa_length": 388,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1248,
"cdna_start": null,
"cds_end": null,
"cds_length": 1167,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000871473.1",
"gene_hgnc_id": 10332,
"gene_symbol": "RPL3",
"hgvs_c": "c.321-70C>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541532.1",
"strand": false,
"transcript": "ENST00000871473.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 371,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1237,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000871468.1",
"gene_hgnc_id": 10332,
"gene_symbol": "RPL3",
"hgvs_c": "c.366-70C>G",
"hgvs_p": null,
"intron_rank": 3,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000541527.1",
"strand": false,
"transcript": "ENST00000871468.1",
"transcript_support_level": null
},
{
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"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
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"feature": "ENST00000871472.1",
"gene_hgnc_id": 10332,
"gene_symbol": "RPL3",
"hgvs_c": "c.366-70C>G",
"hgvs_p": null,
"intron_rank": 3,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000541531.1",
"strand": false,
"transcript": "ENST00000871472.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000926229.1",
"gene_hgnc_id": 10332,
"gene_symbol": "RPL3",
"hgvs_c": "c.366-70C>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596288.1",
"strand": false,
"transcript": "ENST00000926229.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1149,
"cdna_start": null,
"cds_end": null,
"cds_length": 1065,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001033853.2",
"gene_hgnc_id": 10332,
"gene_symbol": "RPL3",
"hgvs_c": "c.366-70C>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001029025.1",
"strand": false,
"transcript": "NM_001033853.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 350,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1133,
"cdna_start": null,
"cds_end": null,
"cds_length": 1053,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000871475.1",
"gene_hgnc_id": 10332,
"gene_symbol": "RPL3",
"hgvs_c": "c.207-70C>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
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