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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: 15-43698687-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=43698687&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CKMT1A",
"hgnc_id": 31736,
"hgvs_c": "c.1151G>A",
"hgvs_p": "p.Arg384His",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001321927.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 33,
"alphamissense_prediction": null,
"alphamissense_score": 0.9951,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.11,
"chr": "15",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.6021111607551575,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 417,
"aa_ref": "R",
"aa_start": 353,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1579,
"cdna_start": 1250,
"cds_end": null,
"cds_length": 1254,
"cds_start": 1058,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001321926.2",
"gene_hgnc_id": 31736,
"gene_symbol": "CKMT1A",
"hgvs_c": "c.1058G>A",
"hgvs_p": "p.Arg353His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000413453.7",
"protein_coding": true,
"protein_id": "NP_001308855.1",
"strand": true,
"transcript": "NM_001321926.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 417,
"aa_ref": "R",
"aa_start": 353,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1579,
"cdna_start": 1250,
"cds_end": null,
"cds_length": 1254,
"cds_start": 1058,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000413453.7",
"gene_hgnc_id": 31736,
"gene_symbol": "CKMT1A",
"hgvs_c": "c.1058G>A",
"hgvs_p": "p.Arg353His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001321926.2",
"protein_coding": true,
"protein_id": "ENSP00000406577.3",
"strand": true,
"transcript": "ENST00000413453.7",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 448,
"aa_ref": "R",
"aa_start": 384,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1972,
"cdna_start": 1643,
"cds_end": null,
"cds_length": 1347,
"cds_start": 1151,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001321927.1",
"gene_hgnc_id": 31736,
"gene_symbol": "CKMT1A",
"hgvs_c": "c.1151G>A",
"hgvs_p": "p.Arg384His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308856.1",
"strand": true,
"transcript": "NM_001321927.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 448,
"aa_ref": "R",
"aa_start": 384,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1733,
"cdna_start": 1404,
"cds_end": null,
"cds_length": 1347,
"cds_start": 1151,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001321928.1",
"gene_hgnc_id": 31736,
"gene_symbol": "CKMT1A",
"hgvs_c": "c.1151G>A",
"hgvs_p": "p.Arg384His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308857.1",
"strand": true,
"transcript": "NM_001321928.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 448,
"aa_ref": "R",
"aa_start": 384,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1843,
"cdna_start": 1514,
"cds_end": null,
"cds_length": 1347,
"cds_start": 1151,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000909070.1",
"gene_hgnc_id": 31736,
"gene_symbol": "CKMT1A",
"hgvs_c": "c.1151G>A",
"hgvs_p": "p.Arg384His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579129.1",
"strand": true,
"transcript": "ENST00000909070.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 448,
"aa_ref": "R",
"aa_start": 384,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1760,
"cdna_start": 1435,
"cds_end": null,
"cds_length": 1347,
"cds_start": 1151,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000909071.1",
"gene_hgnc_id": 31736,
"gene_symbol": "CKMT1A",
"hgvs_c": "c.1151G>A",
"hgvs_p": "p.Arg384His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579130.1",
"strand": true,
"transcript": "ENST00000909071.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 448,
"aa_ref": "R",
"aa_start": 384,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1682,
"cdna_start": 1357,
"cds_end": null,
"cds_length": 1347,
"cds_start": 1151,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000945385.1",
"gene_hgnc_id": 31736,
"gene_symbol": "CKMT1A",
"hgvs_c": "c.1151G>A",
"hgvs_p": "p.Arg384His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615444.1",
"strand": true,
"transcript": "ENST00000945385.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 423,
"aa_ref": "R",
"aa_start": 359,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1529,
"cdna_start": 1200,
"cds_end": null,
"cds_length": 1272,
"cds_start": 1076,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000932399.1",
"gene_hgnc_id": 31736,
"gene_symbol": "CKMT1A",
"hgvs_c": "c.1076G>A",
"hgvs_p": "p.Arg359His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602458.1",
"strand": true,
"transcript": "ENST00000932399.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 417,
"aa_ref": "R",
"aa_start": 353,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1879,
"cdna_start": 1550,
"cds_end": null,
"cds_length": 1254,
"cds_start": 1058,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001015001.2",
"gene_hgnc_id": 31736,
"gene_symbol": "CKMT1A",
"hgvs_c": "c.1058G>A",
"hgvs_p": "p.Arg353His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001015001.1",
"strand": true,
"transcript": "NM_001015001.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 417,
"aa_ref": "R",
"aa_start": 353,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1779,
"cdna_start": 1450,
"cds_end": null,
"cds_length": 1254,
"cds_start": 1058,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000434505.5",
"gene_hgnc_id": 31736,
"gene_symbol": "CKMT1A",
"hgvs_c": "c.1058G>A",
"hgvs_p": "p.Arg353His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000413165.1",
"strand": true,
"transcript": "ENST00000434505.5",
"transcript_support_level": 5
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 417,
"aa_ref": "R",
"aa_start": 353,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3520,
"cdna_start": 1319,
"cds_end": null,
"cds_length": 1254,
"cds_start": 1058,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000909068.1",
"gene_hgnc_id": 31736,
"gene_symbol": "CKMT1A",
"hgvs_c": "c.1058G>A",
"hgvs_p": "p.Arg353His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579127.1",
"strand": true,
"transcript": "ENST00000909068.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 417,
"aa_ref": "R",
"aa_start": 353,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1637,
"cdna_start": 1308,
"cds_end": null,
"cds_length": 1254,
"cds_start": 1058,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000909069.1",
"gene_hgnc_id": 31736,
"gene_symbol": "CKMT1A",
"hgvs_c": "c.1058G>A",
"hgvs_p": "p.Arg353His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579128.1",
"strand": true,
"transcript": "ENST00000909069.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 417,
"aa_ref": "R",
"aa_start": 353,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1691,
"cdna_start": 1367,
"cds_end": null,
"cds_length": 1254,
"cds_start": 1058,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000909073.1",
"gene_hgnc_id": 31736,
"gene_symbol": "CKMT1A",
"hgvs_c": "c.1058G>A",
"hgvs_p": "p.Arg353His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579132.1",
"strand": true,
"transcript": "ENST00000909073.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 417,
"aa_ref": "R",
"aa_start": 353,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1505,
"cdna_start": 1176,
"cds_end": null,
"cds_length": 1254,
"cds_start": 1058,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000909074.1",
"gene_hgnc_id": 31736,
"gene_symbol": "CKMT1A",
"hgvs_c": "c.1058G>A",
"hgvs_p": "p.Arg353His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579133.1",
"strand": true,
"transcript": "ENST00000909074.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 417,
"aa_ref": "R",
"aa_start": 353,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1685,
"cdna_start": 1360,
"cds_end": null,
"cds_length": 1254,
"cds_start": 1058,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000909075.1",
"gene_hgnc_id": 31736,
"gene_symbol": "CKMT1A",
"hgvs_c": "c.1058G>A",
"hgvs_p": "p.Arg353His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579134.1",
"strand": true,
"transcript": "ENST00000909075.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 417,
"aa_ref": "R",
"aa_start": 353,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1586,
"cdna_start": 1259,
"cds_end": null,
"cds_length": 1254,
"cds_start": 1058,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000932397.1",
"gene_hgnc_id": 31736,
"gene_symbol": "CKMT1A",
"hgvs_c": "c.1058G>A",
"hgvs_p": "p.Arg353His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602456.1",
"strand": true,
"transcript": "ENST00000932397.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 415,
"aa_ref": "R",
"aa_start": 353,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1581,
"cdna_start": 1258,
"cds_end": null,
"cds_length": 1248,
"cds_start": 1058,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000909072.1",
"gene_hgnc_id": 31736,
"gene_symbol": "CKMT1A",
"hgvs_c": "c.1058G>A",
"hgvs_p": "p.Arg353His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579131.1",
"strand": true,
"transcript": "ENST00000909072.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 402,
"aa_ref": "R",
"aa_start": 338,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1730,
"cdna_start": 1401,
"cds_end": null,
"cds_length": 1209,
"cds_start": 1013,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000945384.1",
"gene_hgnc_id": 31736,
"gene_symbol": "CKMT1A",
"hgvs_c": "c.1013G>A",
"hgvs_p": "p.Arg338His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615443.1",
"strand": true,
"transcript": "ENST00000945384.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 372,
"aa_ref": "R",
"aa_start": 308,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4674,
"cdna_start": 1066,
"cds_end": null,
"cds_length": 1119,
"cds_start": 923,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000909067.1",
"gene_hgnc_id": 31736,
"gene_symbol": "CKMT1A",
"hgvs_c": "c.923G>A",
"hgvs_p": "p.Arg308His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579126.1",
"strand": true,
"transcript": "ENST00000909067.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 372,
"aa_ref": "R",
"aa_start": 308,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1366,
"cdna_start": 1037,
"cds_end": null,
"cds_length": 1119,
"cds_start": 923,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000932396.1",
"gene_hgnc_id": 31736,
"gene_symbol": "CKMT1A",
"hgvs_c": "c.923G>A",
"hgvs_p": "p.Arg308His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602455.1",
"strand": true,
"transcript": "ENST00000932396.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 343,
"aa_ref": "R",
"aa_start": 279,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1292,
"cdna_start": 963,
"cds_end": null,
"cds_length": 1032,
"cds_start": 836,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000932398.1",
"gene_hgnc_id": 31736,
"gene_symbol": "CKMT1A",
"hgvs_c": "c.836G>A",
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