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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: 11-14464956-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=14464956&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 14464956,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_016451.5",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPB1",
"gene_hgnc_id": 2231,
"hgvs_c": "c.2365G>A",
"hgvs_p": "p.Val789Ile",
"transcript": "NM_001144061.2",
"protein_id": "NP_001137533.1",
"transcript_support_level": null,
"aa_start": 789,
"aa_end": null,
"aa_length": 953,
"cds_start": 2365,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000439561.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001144061.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPB1",
"gene_hgnc_id": 2231,
"hgvs_c": "c.2365G>A",
"hgvs_p": "p.Val789Ile",
"transcript": "ENST00000439561.7",
"protein_id": "ENSP00000397873.2",
"transcript_support_level": 1,
"aa_start": 789,
"aa_end": null,
"aa_length": 953,
"cds_start": 2365,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001144061.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000439561.7"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPB1",
"gene_hgnc_id": 2231,
"hgvs_c": "c.2365G>A",
"hgvs_p": "p.Val789Ile",
"transcript": "ENST00000249923.7",
"protein_id": "ENSP00000249923.3",
"transcript_support_level": 1,
"aa_start": 789,
"aa_end": null,
"aa_length": 953,
"cds_start": 2365,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000249923.7"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPB1",
"gene_hgnc_id": 2231,
"hgvs_c": "c.2473G>A",
"hgvs_p": "p.Val825Ile",
"transcript": "ENST00000890285.1",
"protein_id": "ENSP00000560344.1",
"transcript_support_level": null,
"aa_start": 825,
"aa_end": null,
"aa_length": 989,
"cds_start": 2473,
"cds_end": null,
"cds_length": 2970,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890285.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPB1",
"gene_hgnc_id": 2231,
"hgvs_c": "c.2473G>A",
"hgvs_p": "p.Val825Ile",
"transcript": "ENST00000912857.1",
"protein_id": "ENSP00000582916.1",
"transcript_support_level": null,
"aa_start": 825,
"aa_end": null,
"aa_length": 989,
"cds_start": 2473,
"cds_end": null,
"cds_length": 2970,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912857.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPB1",
"gene_hgnc_id": 2231,
"hgvs_c": "c.2449G>A",
"hgvs_p": "p.Val817Ile",
"transcript": "ENST00000890291.1",
"protein_id": "ENSP00000560350.1",
"transcript_support_level": null,
"aa_start": 817,
"aa_end": null,
"aa_length": 981,
"cds_start": 2449,
"cds_end": null,
"cds_length": 2946,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890291.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPB1",
"gene_hgnc_id": 2231,
"hgvs_c": "c.2365G>A",
"hgvs_p": "p.Val789Ile",
"transcript": "NM_001144062.2",
"protein_id": "NP_001137534.1",
"transcript_support_level": null,
"aa_start": 789,
"aa_end": null,
"aa_length": 953,
"cds_start": 2365,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001144062.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPB1",
"gene_hgnc_id": 2231,
"hgvs_c": "c.2365G>A",
"hgvs_p": "p.Val789Ile",
"transcript": "NM_016451.5",
"protein_id": "NP_057535.1",
"transcript_support_level": null,
"aa_start": 789,
"aa_end": null,
"aa_length": 953,
"cds_start": 2365,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016451.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPB1",
"gene_hgnc_id": 2231,
"hgvs_c": "c.2365G>A",
"hgvs_p": "p.Val789Ile",
"transcript": "ENST00000890278.1",
"protein_id": "ENSP00000560337.1",
"transcript_support_level": null,
"aa_start": 789,
"aa_end": null,
"aa_length": 953,
"cds_start": 2365,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890278.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPB1",
"gene_hgnc_id": 2231,
"hgvs_c": "c.2365G>A",
"hgvs_p": "p.Val789Ile",
"transcript": "ENST00000890281.1",
"protein_id": "ENSP00000560340.1",
"transcript_support_level": null,
"aa_start": 789,
"aa_end": null,
"aa_length": 953,
"cds_start": 2365,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890281.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPB1",
"gene_hgnc_id": 2231,
"hgvs_c": "c.2365G>A",
"hgvs_p": "p.Val789Ile",
"transcript": "ENST00000890283.1",
"protein_id": "ENSP00000560342.1",
"transcript_support_level": null,
"aa_start": 789,
"aa_end": null,
"aa_length": 953,
"cds_start": 2365,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890283.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPB1",
"gene_hgnc_id": 2231,
"hgvs_c": "c.2365G>A",
"hgvs_p": "p.Val789Ile",
"transcript": "ENST00000890289.1",
"protein_id": "ENSP00000560348.1",
"transcript_support_level": null,
"aa_start": 789,
"aa_end": null,
"aa_length": 953,
"cds_start": 2365,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890289.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPB1",
"gene_hgnc_id": 2231,
"hgvs_c": "c.2365G>A",
"hgvs_p": "p.Val789Ile",
"transcript": "ENST00000912858.1",
"protein_id": "ENSP00000582917.1",
"transcript_support_level": null,
"aa_start": 789,
"aa_end": null,
"aa_length": 953,
"cds_start": 2365,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912858.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPB1",
"gene_hgnc_id": 2231,
"hgvs_c": "c.2365G>A",
"hgvs_p": "p.Val789Ile",
"transcript": "ENST00000912859.1",
"protein_id": "ENSP00000582918.1",
"transcript_support_level": null,
"aa_start": 789,
"aa_end": null,
"aa_length": 953,
"cds_start": 2365,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912859.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPB1",
"gene_hgnc_id": 2231,
"hgvs_c": "c.2365G>A",
"hgvs_p": "p.Val789Ile",
"transcript": "ENST00000967459.1",
"protein_id": "ENSP00000637518.1",
"transcript_support_level": null,
"aa_start": 789,
"aa_end": null,
"aa_length": 953,
"cds_start": 2365,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967459.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPB1",
"gene_hgnc_id": 2231,
"hgvs_c": "c.2365G>A",
"hgvs_p": "p.Val789Ile",
"transcript": "ENST00000967460.1",
"protein_id": "ENSP00000637519.1",
"transcript_support_level": null,
"aa_start": 789,
"aa_end": null,
"aa_length": 946,
"cds_start": 2365,
"cds_end": null,
"cds_length": 2841,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967460.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPB1",
"gene_hgnc_id": 2231,
"hgvs_c": "c.2185G>A",
"hgvs_p": "p.Val729Ile",
"transcript": "ENST00000890287.1",
"protein_id": "ENSP00000560346.1",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 893,
"cds_start": 2185,
"cds_end": null,
"cds_length": 2682,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890287.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPB1",
"gene_hgnc_id": 2231,
"hgvs_c": "c.2185G>A",
"hgvs_p": "p.Val729Ile",
"transcript": "ENST00000890295.1",
"protein_id": "ENSP00000560354.1",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 893,
"cds_start": 2185,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890295.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPB1",
"gene_hgnc_id": 2231,
"hgvs_c": "c.2185G>A",
"hgvs_p": "p.Val729Ile",
"transcript": "ENST00000890296.1",
"protein_id": "ENSP00000560355.1",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 893,
"cds_start": 2185,
"cds_end": null,
"cds_length": 2682,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890296.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPB1",
"gene_hgnc_id": 2231,
"hgvs_c": "c.2137G>A",
"hgvs_p": "p.Val713Ile",
"transcript": "ENST00000890293.1",
"protein_id": "ENSP00000560352.1",
"transcript_support_level": null,
"aa_start": 713,
"aa_end": null,
"aa_length": 877,
"cds_start": 2137,
"cds_end": null,
"cds_length": 2634,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890293.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPB1",
"gene_hgnc_id": 2231,
"hgvs_c": "c.2107G>A",
"hgvs_p": "p.Val703Ile",
"transcript": "ENST00000967461.1",
"protein_id": "ENSP00000637520.1",
"transcript_support_level": null,
"aa_start": 703,
"aa_end": null,
"aa_length": 867,
"cds_start": 2107,
"cds_end": null,
"cds_length": 2604,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967461.1"
}
],
"gene_symbol": "COPB1",
"gene_hgnc_id": 2231,
"dbsnp": "rs201467424",
"frequency_reference_population": 0.0003687759,
"hom_count_reference_population": 0,
"allele_count_reference_population": 595,
"gnomad_exomes_af": 0.000373611,
"gnomad_genomes_af": 0.000322301,
"gnomad_exomes_ac": 546,
"gnomad_genomes_ac": 49,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.10410729050636292,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.164,
"revel_prediction": "Benign",
"alphamissense_score": 0.1479,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.35,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.654,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP2,BP4_Moderate",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 2,
"pathogenic_score": 1,
"criteria": [
"PP2",
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_016451.5",
"gene_symbol": "COPB1",
"hgnc_id": 2231,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.2365G>A",
"hgvs_p": "p.Val789Ile"
}
],
"clinvar_disease": "Baralle-Macken syndrome",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Baralle-Macken syndrome",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}