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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: 2-121367786-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=121367786&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 3,
"criteria": [
"BP4_Moderate",
"BS2_Supporting"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CLASP1",
"hgnc_id": 17088,
"hgvs_c": "c.3751G>C",
"hgvs_p": "p.Gly1251Arg",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -3,
"transcript": "NM_001395891.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2_Supporting",
"acmg_score": -3,
"allele_count_reference_population": 43,
"alphamissense_prediction": null,
"alphamissense_score": 0.2818,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.48,
"chr": "2",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.08348813652992249,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1559,
"aa_ref": "G",
"aa_start": 1251,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8141,
"cdna_start": 4127,
"cds_end": null,
"cds_length": 4680,
"cds_start": 3751,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "NM_001395891.1",
"gene_hgnc_id": 17088,
"gene_symbol": "CLASP1",
"hgvs_c": "c.3751G>C",
"hgvs_p": "p.Gly1251Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000696935.1",
"protein_coding": true,
"protein_id": "NP_001382820.1",
"strand": false,
"transcript": "NM_001395891.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1559,
"aa_ref": "G",
"aa_start": 1251,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8141,
"cdna_start": 4127,
"cds_end": null,
"cds_length": 4680,
"cds_start": 3751,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "ENST00000696935.1",
"gene_hgnc_id": 17088,
"gene_symbol": "CLASP1",
"hgvs_c": "c.3751G>C",
"hgvs_p": "p.Gly1251Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001395891.1",
"protein_coding": true,
"protein_id": "ENSP00000512981.1",
"strand": false,
"transcript": "ENST00000696935.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1538,
"aa_ref": "G",
"aa_start": 1230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8078,
"cdna_start": 4064,
"cds_end": null,
"cds_length": 4617,
"cds_start": 3688,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "NM_015282.3",
"gene_hgnc_id": 17088,
"gene_symbol": "CLASP1",
"hgvs_c": "c.3688G>C",
"hgvs_p": "p.Gly1230Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_056097.1",
"strand": false,
"transcript": "NM_015282.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1538,
"aa_ref": "G",
"aa_start": 1230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8092,
"cdna_start": 4078,
"cds_end": null,
"cds_length": 4617,
"cds_start": 3688,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "ENST00000263710.8",
"gene_hgnc_id": 17088,
"gene_symbol": "CLASP1",
"hgvs_c": "c.3688G>C",
"hgvs_p": "p.Gly1230Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000263710.4",
"strand": false,
"transcript": "ENST00000263710.8",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1519,
"aa_ref": "G",
"aa_start": 1211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8084,
"cdna_start": 4072,
"cds_end": null,
"cds_length": 4560,
"cds_start": 3631,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "ENST00000961911.1",
"gene_hgnc_id": 17088,
"gene_symbol": "CLASP1",
"hgvs_c": "c.3631G>C",
"hgvs_p": "p.Gly1211Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631970.1",
"strand": false,
"transcript": "ENST00000961911.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1511,
"aa_ref": "G",
"aa_start": 1203,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8132,
"cdna_start": 4120,
"cds_end": null,
"cds_length": 4536,
"cds_start": 3607,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000961907.1",
"gene_hgnc_id": 17088,
"gene_symbol": "CLASP1",
"hgvs_c": "c.3607G>C",
"hgvs_p": "p.Gly1203Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631966.1",
"strand": false,
"transcript": "ENST00000961907.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1511,
"aa_ref": "G",
"aa_start": 1203,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5304,
"cdna_start": 4046,
"cds_end": null,
"cds_length": 4536,
"cds_start": 3607,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000961936.1",
"gene_hgnc_id": 17088,
"gene_symbol": "CLASP1",
"hgvs_c": "c.3607G>C",
"hgvs_p": "p.Gly1203Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631995.1",
"strand": false,
"transcript": "ENST00000961936.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1506,
"aa_ref": "G",
"aa_start": 1198,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7982,
"cdna_start": 3968,
"cds_end": null,
"cds_length": 4521,
"cds_start": 3592,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "NM_001378003.1",
"gene_hgnc_id": 17088,
"gene_symbol": "CLASP1",
"hgvs_c": "c.3592G>C",
"hgvs_p": "p.Gly1198Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001364932.1",
"strand": false,
"transcript": "NM_001378003.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1504,
"aa_ref": "G",
"aa_start": 1196,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7463,
"cdna_start": 3963,
"cds_end": null,
"cds_length": 4515,
"cds_start": 3586,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000961923.1",
"gene_hgnc_id": 17088,
"gene_symbol": "CLASP1",
"hgvs_c": "c.3586G>C",
"hgvs_p": "p.Gly1196Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631982.1",
"strand": false,
"transcript": "ENST00000961923.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1503,
"aa_ref": "G",
"aa_start": 1195,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7949,
"cdna_start": 3937,
"cds_end": null,
"cds_length": 4512,
"cds_start": 3583,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000961917.1",
"gene_hgnc_id": 17088,
"gene_symbol": "CLASP1",
"hgvs_c": "c.3583G>C",
"hgvs_p": "p.Gly1195Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631976.1",
"strand": false,
"transcript": "ENST00000961917.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1503,
"aa_ref": "G",
"aa_start": 1195,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7297,
"cdna_start": 3960,
"cds_end": null,
"cds_length": 4512,
"cds_start": 3583,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "ENST00000961925.1",
"gene_hgnc_id": 17088,
"gene_symbol": "CLASP1",
"hgvs_c": "c.3583G>C",
"hgvs_p": "p.Gly1195Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631984.1",
"strand": false,
"transcript": "ENST00000961925.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1503,
"aa_ref": "G",
"aa_start": 1195,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6156,
"cdna_start": 3975,
"cds_end": null,
"cds_length": 4512,
"cds_start": 3583,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000961930.1",
"gene_hgnc_id": 17088,
"gene_symbol": "CLASP1",
"hgvs_c": "c.3583G>C",
"hgvs_p": "p.Gly1195Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631989.1",
"strand": false,
"transcript": "ENST00000961930.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1495,
"aa_ref": "G",
"aa_start": 1187,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5638,
"cdna_start": 3965,
"cds_end": null,
"cds_length": 4488,
"cds_start": 3559,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "ENST00000877408.1",
"gene_hgnc_id": 17088,
"gene_symbol": "CLASP1",
"hgvs_c": "c.3559G>C",
"hgvs_p": "p.Gly1187Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547467.1",
"strand": false,
"transcript": "ENST00000877408.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1494,
"aa_ref": "G",
"aa_start": 1186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7498,
"cdna_start": 3962,
"cds_end": null,
"cds_length": 4485,
"cds_start": 3556,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "ENST00000961920.1",
"gene_hgnc_id": 17088,
"gene_symbol": "CLASP1",
"hgvs_c": "c.3556G>C",
"hgvs_p": "p.Gly1186Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631979.1",
"strand": false,
"transcript": "ENST00000961920.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1494,
"aa_ref": "G",
"aa_start": 1186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5339,
"cdna_start": 3963,
"cds_end": null,
"cds_length": 4485,
"cds_start": 3556,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "ENST00000961932.1",
"gene_hgnc_id": 17088,
"gene_symbol": "CLASP1",
"hgvs_c": "c.3556G>C",
"hgvs_p": "p.Gly1186Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631991.1",
"strand": false,
"transcript": "ENST00000961932.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1487,
"aa_ref": "G",
"aa_start": 1179,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6120,
"cdna_start": 3942,
"cds_end": null,
"cds_length": 4464,
"cds_start": 3535,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000961928.1",
"gene_hgnc_id": 17088,
"gene_symbol": "CLASP1",
"hgvs_c": "c.3535G>C",
"hgvs_p": "p.Gly1179Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631987.1",
"strand": false,
"transcript": "ENST00000961928.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1486,
"aa_ref": "G",
"aa_start": 1178,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7483,
"cdna_start": 3936,
"cds_end": null,
"cds_length": 4461,
"cds_start": 3532,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000961919.1",
"gene_hgnc_id": 17088,
"gene_symbol": "CLASP1",
"hgvs_c": "c.3532G>C",
"hgvs_p": "p.Gly1178Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631978.1",
"strand": false,
"transcript": "ENST00000961919.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 1485,
"aa_ref": "G",
"aa_start": 1177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8004,
"cdna_start": 3992,
"cds_end": null,
"cds_length": 4458,
"cds_start": 3529,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000961910.1",
"gene_hgnc_id": 17088,
"gene_symbol": "CLASP1",
"hgvs_c": "c.3529G>C",
"hgvs_p": "p.Gly1177Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631969.1",
"strand": false,
"transcript": "ENST00000961910.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 1485,
"aa_ref": "G",
"aa_start": 1177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7901,
"cdna_start": 3891,
"cds_end": null,
"cds_length": 4458,
"cds_start": 3529,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000961926.1",
"gene_hgnc_id": 17088,
"gene_symbol": "CLASP1",
"hgvs_c": "c.3529G>C",
"hgvs_p": "p.Gly1177Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631985.1",
"strand": false,
"transcript": "ENST00000961926.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1484,
"aa_ref": "G",
"aa_start": 1176,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7915,
"cdna_start": 3903,
"cds_end": null,
"cds_length": 4455,
"cds_start": 3526,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000961915.1",
"gene_hgnc_id": 17088,
"gene_symbol": "CLASP1",
"hgvs_c": "c.3526G>C",
"hgvs_p": "p.Gly1176Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631974.1",
"strand": false,
"transcript": "ENST00000961915.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1482,
"aa_ref": "G",
"aa_start": 1174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6107,
"cdna_start": 3927,
"cds_end": null,
"cds_length": 4449,
"cds_start": 3520,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": 33,
"exon_rank_end": null,
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