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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: 21-45509553-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=45509553&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "COL18A1",
"hgnc_id": 2195,
"hgvs_c": "c.4692G>C",
"hgvs_p": "p.Ala1564Ala",
"inheritance_mode": "AR,AD",
"pathogenic_score": 2,
"score": -3,
"transcript": "NM_130444.3",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "SLC19A1",
"hgnc_id": 10937,
"hgvs_c": "c.1294-10941C>G",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "ENST00000567670.5",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_score": -3,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.86,
"chr": "21",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.00800000037997961,
"computational_source_selected": "REVEL",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1339,
"aa_ref": "A",
"aa_start": 1149,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5408,
"cdna_start": 3513,
"cds_end": null,
"cds_length": 4020,
"cds_start": 3447,
"consequences": [
"synonymous_variant"
],
"exon_count": 42,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "NM_001379500.1",
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"hgvs_c": "c.3447G>C",
"hgvs_p": "p.Ala1149Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000651438.1",
"protein_coding": true,
"protein_id": "NP_001366429.1",
"strand": true,
"transcript": "NM_001379500.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1339,
"aa_ref": "A",
"aa_start": 1149,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5408,
"cdna_start": 3513,
"cds_end": null,
"cds_length": 4020,
"cds_start": 3447,
"consequences": [
"synonymous_variant"
],
"exon_count": 42,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "ENST00000651438.1",
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"hgvs_c": "c.3447G>C",
"hgvs_p": "p.Ala1149Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001379500.1",
"protein_coding": true,
"protein_id": "ENSP00000498485.1",
"strand": true,
"transcript": "ENST00000651438.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1519,
"aa_ref": "A",
"aa_start": 1329,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5891,
"cdna_start": 3996,
"cds_end": null,
"cds_length": 4560,
"cds_start": 3987,
"consequences": [
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "ENST00000355480.10",
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"hgvs_c": "c.3987G>C",
"hgvs_p": "p.Ala1329Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000347665.5",
"strand": true,
"transcript": "ENST00000355480.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 545,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2029,
"cdna_start": null,
"cds_end": null,
"cds_length": 1638,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000567670.5",
"gene_hgnc_id": 10937,
"gene_symbol": "SLC19A1",
"hgvs_c": "c.1294-10941C>G",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000457278.1",
"strand": false,
"transcript": "ENST00000567670.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 268,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3572,
"cdna_start": null,
"cds_end": null,
"cds_length": 807,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000417954.5",
"gene_hgnc_id": 10937,
"gene_symbol": "SLC19A1",
"hgvs_c": "c.496-10941C>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000393988.1",
"strand": false,
"transcript": "ENST00000417954.5",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1754,
"aa_ref": "A",
"aa_start": 1564,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6596,
"cdna_start": 4701,
"cds_end": null,
"cds_length": 5265,
"cds_start": 4692,
"consequences": [
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "NM_130444.3",
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"hgvs_c": "c.4692G>C",
"hgvs_p": "p.Ala1564Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_569711.2",
"strand": true,
"transcript": "NM_130444.3",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1754,
"aa_ref": "A",
"aa_start": 1564,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6586,
"cdna_start": 4692,
"cds_end": null,
"cds_length": 5265,
"cds_start": 4692,
"consequences": [
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "ENST00000359759.8",
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"hgvs_c": "c.4692G>C",
"hgvs_p": "p.Ala1564Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000352798.4",
"strand": true,
"transcript": "ENST00000359759.8",
"transcript_support_level": 5
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1519,
"aa_ref": "A",
"aa_start": 1329,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5891,
"cdna_start": 3996,
"cds_end": null,
"cds_length": 4560,
"cds_start": 3987,
"consequences": [
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "NM_030582.4",
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"hgvs_c": "c.3987G>C",
"hgvs_p": "p.Ala1329Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_085059.2",
"strand": true,
"transcript": "NM_030582.4",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1483,
"aa_ref": "A",
"aa_start": 1293,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5863,
"cdna_start": 3968,
"cds_end": null,
"cds_length": 4452,
"cds_start": 3879,
"consequences": [
"synonymous_variant"
],
"exon_count": 43,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "ENST00000859062.1",
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"hgvs_c": "c.3879G>C",
"hgvs_p": "p.Ala1293Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529121.1",
"strand": true,
"transcript": "ENST00000859062.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1421,
"aa_ref": "A",
"aa_start": 1231,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4497,
"cdna_start": 3754,
"cds_end": null,
"cds_length": 4266,
"cds_start": 3693,
"consequences": [
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "ENST00000930602.1",
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"hgvs_c": "c.3693G>C",
"hgvs_p": "p.Ala1231Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600661.1",
"strand": true,
"transcript": "ENST00000930602.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1362,
"aa_ref": "A",
"aa_start": 1172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4317,
"cdna_start": 3577,
"cds_end": null,
"cds_length": 4089,
"cds_start": 3516,
"consequences": [
"synonymous_variant"
],
"exon_count": 43,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "ENST00000859069.1",
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"hgvs_c": "c.3516G>C",
"hgvs_p": "p.Ala1172Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529128.1",
"strand": true,
"transcript": "ENST00000859069.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1359,
"aa_ref": "A",
"aa_start": 1169,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4313,
"cdna_start": 3573,
"cds_end": null,
"cds_length": 4080,
"cds_start": 3507,
"consequences": [
"synonymous_variant"
],
"exon_count": 42,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "ENST00000859068.1",
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"hgvs_c": "c.3507G>C",
"hgvs_p": "p.Ala1169Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529127.1",
"strand": true,
"transcript": "ENST00000859068.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1357,
"aa_ref": "A",
"aa_start": 1167,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5482,
"cdna_start": 3587,
"cds_end": null,
"cds_length": 4074,
"cds_start": 3501,
"consequences": [
"synonymous_variant"
],
"exon_count": 42,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "ENST00000859063.1",
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"hgvs_c": "c.3501G>C",
"hgvs_p": "p.Ala1167Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529122.1",
"strand": true,
"transcript": "ENST00000859063.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1350,
"aa_ref": "A",
"aa_start": 1160,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5475,
"cdna_start": 3581,
"cds_end": null,
"cds_length": 4053,
"cds_start": 3480,
"consequences": [
"synonymous_variant"
],
"exon_count": 43,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "ENST00000859060.1",
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"hgvs_c": "c.3480G>C",
"hgvs_p": "p.Ala1160Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529119.1",
"strand": true,
"transcript": "ENST00000859060.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1336,
"aa_ref": "A",
"aa_start": 1146,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5393,
"cdna_start": 3499,
"cds_end": null,
"cds_length": 4011,
"cds_start": 3438,
"consequences": [
"synonymous_variant"
],
"exon_count": 42,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "ENST00000970099.1",
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"hgvs_c": "c.3438G>C",
"hgvs_p": "p.Ala1146Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640158.1",
"strand": true,
"transcript": "ENST00000970099.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1331,
"aa_ref": "A",
"aa_start": 1141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4248,
"cdna_start": 3512,
"cds_end": null,
"cds_length": 3996,
"cds_start": 3423,
"consequences": [
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "ENST00000859066.1",
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"hgvs_c": "c.3423G>C",
"hgvs_p": "p.Ala1141Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529125.1",
"strand": true,
"transcript": "ENST00000859066.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1330,
"aa_ref": "A",
"aa_start": 1140,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5399,
"cdna_start": 3505,
"cds_end": null,
"cds_length": 3993,
"cds_start": 3420,
"consequences": [
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "ENST00000930597.1",
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"hgvs_c": "c.3420G>C",
"hgvs_p": "p.Ala1140Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600656.1",
"strand": true,
"transcript": "ENST00000930597.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1330,
"aa_ref": "A",
"aa_start": 1140,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5406,
"cdna_start": 3512,
"cds_end": null,
"cds_length": 3993,
"cds_start": 3420,
"consequences": [
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "ENST00000970097.1",
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"hgvs_c": "c.3420G>C",
"hgvs_p": "p.Ala1140Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640156.1",
"strand": true,
"transcript": "ENST00000970097.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1329,
"aa_ref": "A",
"aa_start": 1139,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4241,
"cdna_start": 3483,
"cds_end": null,
"cds_length": 3990,
"cds_start": 3417,
"consequences": [
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "ENST00000859067.1",
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"hgvs_c": "c.3417G>C",
"hgvs_p": "p.Ala1139Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529126.1",
"strand": true,
"transcript": "ENST00000859067.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1327,
"aa_ref": "A",
"aa_start": 1137,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5414,
"cdna_start": 3519,
"cds_end": null,
"cds_length": 3984,
"cds_start": 3411,
"consequences": [
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "ENST00000859059.1",
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"hgvs_c": "c.3411G>C",
"hgvs_p": "p.Ala1137Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529118.1",
"strand": true,
"transcript": "ENST00000859059.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1321,
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