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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: 3-129252885-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=129252885&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "COPG1",
"hgnc_id": 2236,
"hgvs_c": "c.253C>G",
"hgvs_p": "p.Arg85Gly",
"inheritance_mode": "AR",
"pathogenic_score": 6,
"score": 6,
"transcript": "NM_016128.4",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_score": 6,
"allele_count_reference_population": 1,
"alphamissense_prediction": "Pathogenic",
"alphamissense_score": 0.9982,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.16,
"chr": "3",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9698579907417297,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 874,
"aa_ref": "R",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3078,
"cdna_start": 357,
"cds_end": null,
"cds_length": 2625,
"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_016128.4",
"gene_hgnc_id": 2236,
"gene_symbol": "COPG1",
"hgvs_c": "c.253C>G",
"hgvs_p": "p.Arg85Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000314797.10",
"protein_coding": true,
"protein_id": "NP_057212.1",
"strand": true,
"transcript": "NM_016128.4",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 874,
"aa_ref": "R",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3078,
"cdna_start": 357,
"cds_end": null,
"cds_length": 2625,
"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000314797.10",
"gene_hgnc_id": 2236,
"gene_symbol": "COPG1",
"hgvs_c": "c.253C>G",
"hgvs_p": "p.Arg85Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_016128.4",
"protein_coding": true,
"protein_id": "ENSP00000325002.6",
"strand": true,
"transcript": "ENST00000314797.10",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 915,
"aa_ref": "R",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3200,
"cdna_start": 358,
"cds_end": null,
"cds_length": 2748,
"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000961557.1",
"gene_hgnc_id": 2236,
"gene_symbol": "COPG1",
"hgvs_c": "c.253C>G",
"hgvs_p": "p.Arg85Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631616.1",
"strand": true,
"transcript": "ENST00000961557.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 909,
"aa_ref": "R",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3157,
"cdna_start": 333,
"cds_end": null,
"cds_length": 2730,
"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000865885.1",
"gene_hgnc_id": 2236,
"gene_symbol": "COPG1",
"hgvs_c": "c.253C>G",
"hgvs_p": "p.Arg85Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535944.1",
"strand": true,
"transcript": "ENST00000865885.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 894,
"aa_ref": "R",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3119,
"cdna_start": 336,
"cds_end": null,
"cds_length": 2685,
"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000865883.1",
"gene_hgnc_id": 2236,
"gene_symbol": "COPG1",
"hgvs_c": "c.253C>G",
"hgvs_p": "p.Arg85Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535942.1",
"strand": true,
"transcript": "ENST00000865883.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 889,
"aa_ref": "R",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3104,
"cdna_start": 338,
"cds_end": null,
"cds_length": 2670,
"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000961561.1",
"gene_hgnc_id": 2236,
"gene_symbol": "COPG1",
"hgvs_c": "c.253C>G",
"hgvs_p": "p.Arg85Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631620.1",
"strand": true,
"transcript": "ENST00000961561.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 882,
"aa_ref": "R",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3106,
"cdna_start": 363,
"cds_end": null,
"cds_length": 2649,
"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000911369.1",
"gene_hgnc_id": 2236,
"gene_symbol": "COPG1",
"hgvs_c": "c.253C>G",
"hgvs_p": "p.Arg85Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581428.1",
"strand": true,
"transcript": "ENST00000911369.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 877,
"aa_ref": "R",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3083,
"cdna_start": 353,
"cds_end": null,
"cds_length": 2634,
"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000911370.1",
"gene_hgnc_id": 2236,
"gene_symbol": "COPG1",
"hgvs_c": "c.253C>G",
"hgvs_p": "p.Arg85Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581429.1",
"strand": true,
"transcript": "ENST00000911370.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 871,
"aa_ref": "R",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3052,
"cdna_start": 343,
"cds_end": null,
"cds_length": 2616,
"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000961560.1",
"gene_hgnc_id": 2236,
"gene_symbol": "COPG1",
"hgvs_c": "c.253C>G",
"hgvs_p": "p.Arg85Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631619.1",
"strand": true,
"transcript": "ENST00000961560.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 864,
"aa_ref": "R",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3035,
"cdna_start": 348,
"cds_end": null,
"cds_length": 2595,
"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000961559.1",
"gene_hgnc_id": 2236,
"gene_symbol": "COPG1",
"hgvs_c": "c.253C>G",
"hgvs_p": "p.Arg85Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631618.1",
"strand": true,
"transcript": "ENST00000961559.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
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"aa_length": 861,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3045,
"cdna_start": 363,
"cds_end": null,
"cds_length": 2586,
"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000865881.1",
"gene_hgnc_id": 2236,
"gene_symbol": "COPG1",
"hgvs_c": "c.253C>G",
"hgvs_p": "p.Arg85Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535940.1",
"strand": true,
"transcript": "ENST00000865881.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
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"aa_length": 860,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3013,
"cdna_start": 337,
"cds_end": null,
"cds_length": 2583,
"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 24,
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"feature": "ENST00000961562.1",
"gene_hgnc_id": 2236,
"gene_symbol": "COPG1",
"hgvs_c": "c.253C>G",
"hgvs_p": "p.Arg85Gly",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631621.1",
"strand": true,
"transcript": "ENST00000961562.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 3005,
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"cds_end": null,
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"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 5,
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"feature": "ENST00000865882.1",
"gene_hgnc_id": 2236,
"gene_symbol": "COPG1",
"hgvs_c": "c.253C>G",
"hgvs_p": "p.Arg85Gly",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535941.1",
"strand": true,
"transcript": "ENST00000865882.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
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"aa_length": 848,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2974,
"cdna_start": 331,
"cds_end": null,
"cds_length": 2547,
"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000911371.1",
"gene_hgnc_id": 2236,
"gene_symbol": "COPG1",
"hgvs_c": "c.253C>G",
"hgvs_p": "p.Arg85Gly",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581430.1",
"strand": true,
"transcript": "ENST00000911371.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"canonical": false,
"cdna_end": null,
"cdna_length": 3286,
"cdna_start": 366,
"cds_end": null,
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"consequences": [
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],
"exon_count": 23,
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"feature": "ENST00000961555.1",
"gene_hgnc_id": 2236,
"gene_symbol": "COPG1",
"hgvs_c": "c.253C>G",
"hgvs_p": "p.Arg85Gly",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631614.1",
"strand": true,
"transcript": "ENST00000961555.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3011,
"cdna_start": 386,
"cds_end": null,
"cds_length": 2529,
"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000865880.1",
"gene_hgnc_id": 2236,
"gene_symbol": "COPG1",
"hgvs_c": "c.253C>G",
"hgvs_p": "p.Arg85Gly",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535939.1",
"strand": true,
"transcript": "ENST00000865880.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
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"aa_length": 841,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3007,
"cdna_start": 387,
"cds_end": null,
"cds_length": 2526,
"cds_start": 253,
"consequences": [
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],
"exon_count": 23,
"exon_rank": 5,
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"feature": "ENST00000961556.1",
"gene_hgnc_id": 2236,
"gene_symbol": "COPG1",
"hgvs_c": "c.253C>G",
"hgvs_p": "p.Arg85Gly",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000631615.1",
"strand": true,
"transcript": "ENST00000961556.1",
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},
{
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"consequences": [
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],
"exon_count": 23,
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"feature": "ENST00000911368.1",
"gene_hgnc_id": 2236,
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"hgvs_c": "c.253C>G",
"hgvs_p": "p.Arg85Gly",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000581427.1",
"strand": true,
"transcript": "ENST00000911368.1",
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},
{
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"cds_end": null,
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"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 5,
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"feature": "ENST00000961558.1",
"gene_hgnc_id": 2236,
"gene_symbol": "COPG1",
"hgvs_c": "c.253C>G",
"hgvs_p": "p.Arg85Gly",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631617.1",
"strand": true,
"transcript": "ENST00000961558.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2802,
"cdna_start": 343,
"cds_end": null,
"cds_length": 2430,
"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000961563.1",
"gene_hgnc_id": 2236,
"gene_symbol": "COPG1",
"hgvs_c": "c.253C>G",
"hgvs_p": "p.Arg85Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631622.1",
"strand": true,
"transcript": "ENST00000961563.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 862,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3021,
"cdna_start": null,
"cds_end": null,
"cds_length": 2589,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000865884.1",
"gene_hgnc_id": 2236,
"gene_symbol": "COPG1",
"hgvs_c": "c.244-27C>G",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
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