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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: 11-14469480-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=14469480&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"BP4_Strong",
"BP6_Moderate"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "COPB1",
"hgnc_id": 2231,
"hgvs_c": "c.1821T>C",
"hgvs_p": "p.Asp607Asp",
"inheritance_mode": "Unknown,AR",
"pathogenic_score": 0,
"score": -6,
"transcript": "NM_016451.5",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate",
"acmg_score": -6,
"allele_count_reference_population": 251,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.49,
"chr": "11",
"clinvar_classification": "Likely benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.49000000953674316,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 953,
"aa_ref": "D",
"aa_start": 607,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3336,
"cdna_start": 1983,
"cds_end": null,
"cds_length": 2862,
"cds_start": 1821,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001144061.2",
"gene_hgnc_id": 2231,
"gene_symbol": "COPB1",
"hgvs_c": "c.1821T>C",
"hgvs_p": "p.Asp607Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000439561.7",
"protein_coding": true,
"protein_id": "NP_001137533.1",
"strand": false,
"transcript": "NM_001144061.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 953,
"aa_ref": "D",
"aa_start": 607,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3336,
"cdna_start": 1983,
"cds_end": null,
"cds_length": 2862,
"cds_start": 1821,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000439561.7",
"gene_hgnc_id": 2231,
"gene_symbol": "COPB1",
"hgvs_c": "c.1821T>C",
"hgvs_p": "p.Asp607Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001144061.2",
"protein_coding": true,
"protein_id": "ENSP00000397873.2",
"strand": false,
"transcript": "ENST00000439561.7",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 953,
"aa_ref": "D",
"aa_start": 607,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3481,
"cdna_start": 2122,
"cds_end": null,
"cds_length": 2862,
"cds_start": 1821,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000249923.7",
"gene_hgnc_id": 2231,
"gene_symbol": "COPB1",
"hgvs_c": "c.1821T>C",
"hgvs_p": "p.Asp607Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000249923.3",
"strand": false,
"transcript": "ENST00000249923.7",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 989,
"aa_ref": "D",
"aa_start": 643,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3459,
"cdna_start": 2102,
"cds_end": null,
"cds_length": 2970,
"cds_start": 1929,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000890285.1",
"gene_hgnc_id": 2231,
"gene_symbol": "COPB1",
"hgvs_c": "c.1929T>C",
"hgvs_p": "p.Asp643Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560344.1",
"strand": false,
"transcript": "ENST00000890285.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 989,
"aa_ref": "D",
"aa_start": 643,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3421,
"cdna_start": 2069,
"cds_end": null,
"cds_length": 2970,
"cds_start": 1929,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000912857.1",
"gene_hgnc_id": 2231,
"gene_symbol": "COPB1",
"hgvs_c": "c.1929T>C",
"hgvs_p": "p.Asp643Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582916.1",
"strand": false,
"transcript": "ENST00000912857.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 981,
"aa_ref": "D",
"aa_start": 635,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3412,
"cdna_start": 2067,
"cds_end": null,
"cds_length": 2946,
"cds_start": 1905,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000890291.1",
"gene_hgnc_id": 2231,
"gene_symbol": "COPB1",
"hgvs_c": "c.1905T>C",
"hgvs_p": "p.Asp635Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560350.1",
"strand": false,
"transcript": "ENST00000890291.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 953,
"aa_ref": "D",
"aa_start": 607,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3301,
"cdna_start": 1948,
"cds_end": null,
"cds_length": 2862,
"cds_start": 1821,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001144062.2",
"gene_hgnc_id": 2231,
"gene_symbol": "COPB1",
"hgvs_c": "c.1821T>C",
"hgvs_p": "p.Asp607Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001137534.1",
"strand": false,
"transcript": "NM_001144062.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 953,
"aa_ref": "D",
"aa_start": 607,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3434,
"cdna_start": 2081,
"cds_end": null,
"cds_length": 2862,
"cds_start": 1821,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_016451.5",
"gene_hgnc_id": 2231,
"gene_symbol": "COPB1",
"hgvs_c": "c.1821T>C",
"hgvs_p": "p.Asp607Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_057535.1",
"strand": false,
"transcript": "NM_016451.5",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 953,
"aa_ref": "D",
"aa_start": 607,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3716,
"cdna_start": 2145,
"cds_end": null,
"cds_length": 2862,
"cds_start": 1821,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000890278.1",
"gene_hgnc_id": 2231,
"gene_symbol": "COPB1",
"hgvs_c": "c.1821T>C",
"hgvs_p": "p.Asp607Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560337.1",
"strand": false,
"transcript": "ENST00000890278.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 953,
"aa_ref": "D",
"aa_start": 607,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5448,
"cdna_start": 2765,
"cds_end": null,
"cds_length": 2862,
"cds_start": 1821,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000890281.1",
"gene_hgnc_id": 2231,
"gene_symbol": "COPB1",
"hgvs_c": "c.1821T>C",
"hgvs_p": "p.Asp607Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560340.1",
"strand": false,
"transcript": "ENST00000890281.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 953,
"aa_ref": "D",
"aa_start": 607,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3525,
"cdna_start": 2039,
"cds_end": null,
"cds_length": 2862,
"cds_start": 1821,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000890283.1",
"gene_hgnc_id": 2231,
"gene_symbol": "COPB1",
"hgvs_c": "c.1821T>C",
"hgvs_p": "p.Asp607Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560342.1",
"strand": false,
"transcript": "ENST00000890283.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 953,
"aa_ref": "D",
"aa_start": 607,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3330,
"cdna_start": 2015,
"cds_end": null,
"cds_length": 2862,
"cds_start": 1821,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000890289.1",
"gene_hgnc_id": 2231,
"gene_symbol": "COPB1",
"hgvs_c": "c.1821T>C",
"hgvs_p": "p.Asp607Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560348.1",
"strand": false,
"transcript": "ENST00000890289.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 953,
"aa_ref": "D",
"aa_start": 607,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3253,
"cdna_start": 1901,
"cds_end": null,
"cds_length": 2862,
"cds_start": 1821,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000912858.1",
"gene_hgnc_id": 2231,
"gene_symbol": "COPB1",
"hgvs_c": "c.1821T>C",
"hgvs_p": "p.Asp607Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582917.1",
"strand": false,
"transcript": "ENST00000912858.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 953,
"aa_ref": "D",
"aa_start": 607,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3449,
"cdna_start": 2137,
"cds_end": null,
"cds_length": 2862,
"cds_start": 1821,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000912859.1",
"gene_hgnc_id": 2231,
"gene_symbol": "COPB1",
"hgvs_c": "c.1821T>C",
"hgvs_p": "p.Asp607Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582918.1",
"strand": false,
"transcript": "ENST00000912859.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 953,
"aa_ref": "D",
"aa_start": 607,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3473,
"cdna_start": 1988,
"cds_end": null,
"cds_length": 2862,
"cds_start": 1821,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000967459.1",
"gene_hgnc_id": 2231,
"gene_symbol": "COPB1",
"hgvs_c": "c.1821T>C",
"hgvs_p": "p.Asp607Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637518.1",
"strand": false,
"transcript": "ENST00000967459.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 946,
"aa_ref": "D",
"aa_start": 607,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3356,
"cdna_start": 2027,
"cds_end": null,
"cds_length": 2841,
"cds_start": 1821,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000967460.1",
"gene_hgnc_id": 2231,
"gene_symbol": "COPB1",
"hgvs_c": "c.1821T>C",
"hgvs_p": "p.Asp607Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637519.1",
"strand": false,
"transcript": "ENST00000967460.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 893,
"aa_ref": "D",
"aa_start": 607,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3153,
"cdna_start": 2018,
"cds_end": null,
"cds_length": 2682,
"cds_start": 1821,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000890287.1",
"gene_hgnc_id": 2231,
"gene_symbol": "COPB1",
"hgvs_c": "c.1821T>C",
"hgvs_p": "p.Asp607Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560346.1",
"strand": false,
"transcript": "ENST00000890287.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 893,
"aa_ref": "D",
"aa_start": 607,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3080,
"cdna_start": 1948,
"cds_end": null,
"cds_length": 2682,
"cds_start": 1821,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000890295.1",
"gene_hgnc_id": 2231,
"gene_symbol": "COPB1",
"hgvs_c": "c.1821T>C",
"hgvs_p": "p.Asp607Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560354.1",
"strand": false,
"transcript": "ENST00000890295.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 893,
"aa_ref": "D",
"aa_start": 607,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3034,
"cdna_start": 1899,
"cds_end": null,
"cds_length": 2682,
"cds_start": 1821,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000890296.1",
"gene_hgnc_id": 2231,
"gene_symbol": "COPB1",
"hgvs_c": "c.1821T>C",
"hgvs_p": "p.Asp607Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560355.1",
"strand": false,
"transcript": "ENST00000890296.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 867,
"aa_ref": "D",
"aa_start": 521,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3051,
"cdna_start": 1741,
"cds_end": null,
"cds_length": 2604,
"cds_start": 1563,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000967461.1",
"gene_hgnc_id": 2231,
"gene_symbol": "COPB1",
"hgvs_c": "c.1563T>C",
"hgvs_p": "p.Asp521Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637520.1",
"strand": false,
"transcript": "ENST00000967461.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 877,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3100,
"cdna_start": null,
"cds_end": null,
"cds_length": 2634,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000890293.1",
"gene_hgnc_id": 2231,
"gene_symbol": "COPB1",
"hgvs_c": "c.1738-620T>C",
"hgvs_p": null,
"intron_rank": 14,
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"protein_coding": true,
"protein_id": "ENSP00000560352.1",
"strand": false,
"transcript": "ENST00000890293.1",
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}
],
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"dbscsnv_ada_score": null,
"dbsnp": "rs147940792",
"effect": "synonymous_variant",
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"gene_hgnc_id": 2231,
"gene_symbol": "COPB1",
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"mitotip_score": null,
"pathogenicity_classification_combined": "Likely benign",
"phenotype_combined": "not provided",
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.426,
"pos": 14469480,
"ref": "A",
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"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.019999999552965164,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
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"transcript": "NM_016451.5"
}
]
}