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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: 11-14466378-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=14466378&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 14466378,
"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": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPB1",
"gene_hgnc_id": 2231,
"hgvs_c": "c.2194G>A",
"hgvs_p": "p.Val732Ile",
"transcript": "NM_001144061.2",
"protein_id": "NP_001137533.1",
"transcript_support_level": null,
"aa_start": 732,
"aa_end": null,
"aa_length": 953,
"cds_start": 2194,
"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": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPB1",
"gene_hgnc_id": 2231,
"hgvs_c": "c.2194G>A",
"hgvs_p": "p.Val732Ile",
"transcript": "ENST00000439561.7",
"protein_id": "ENSP00000397873.2",
"transcript_support_level": 1,
"aa_start": 732,
"aa_end": null,
"aa_length": 953,
"cds_start": 2194,
"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": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPB1",
"gene_hgnc_id": 2231,
"hgvs_c": "c.2194G>A",
"hgvs_p": "p.Val732Ile",
"transcript": "ENST00000249923.7",
"protein_id": "ENSP00000249923.3",
"transcript_support_level": 1,
"aa_start": 732,
"aa_end": null,
"aa_length": 953,
"cds_start": 2194,
"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": 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.2302G>A",
"hgvs_p": "p.Val768Ile",
"transcript": "ENST00000890285.1",
"protein_id": "ENSP00000560344.1",
"transcript_support_level": null,
"aa_start": 768,
"aa_end": null,
"aa_length": 989,
"cds_start": 2302,
"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": 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.2302G>A",
"hgvs_p": "p.Val768Ile",
"transcript": "ENST00000912857.1",
"protein_id": "ENSP00000582916.1",
"transcript_support_level": null,
"aa_start": 768,
"aa_end": null,
"aa_length": 989,
"cds_start": 2302,
"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": 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.2278G>A",
"hgvs_p": "p.Val760Ile",
"transcript": "ENST00000890291.1",
"protein_id": "ENSP00000560350.1",
"transcript_support_level": null,
"aa_start": 760,
"aa_end": null,
"aa_length": 981,
"cds_start": 2278,
"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": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPB1",
"gene_hgnc_id": 2231,
"hgvs_c": "c.2194G>A",
"hgvs_p": "p.Val732Ile",
"transcript": "NM_001144062.2",
"protein_id": "NP_001137534.1",
"transcript_support_level": null,
"aa_start": 732,
"aa_end": null,
"aa_length": 953,
"cds_start": 2194,
"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": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPB1",
"gene_hgnc_id": 2231,
"hgvs_c": "c.2194G>A",
"hgvs_p": "p.Val732Ile",
"transcript": "NM_016451.5",
"protein_id": "NP_057535.1",
"transcript_support_level": null,
"aa_start": 732,
"aa_end": null,
"aa_length": 953,
"cds_start": 2194,
"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": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPB1",
"gene_hgnc_id": 2231,
"hgvs_c": "c.2194G>A",
"hgvs_p": "p.Val732Ile",
"transcript": "ENST00000890278.1",
"protein_id": "ENSP00000560337.1",
"transcript_support_level": null,
"aa_start": 732,
"aa_end": null,
"aa_length": 953,
"cds_start": 2194,
"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": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPB1",
"gene_hgnc_id": 2231,
"hgvs_c": "c.2194G>A",
"hgvs_p": "p.Val732Ile",
"transcript": "ENST00000890281.1",
"protein_id": "ENSP00000560340.1",
"transcript_support_level": null,
"aa_start": 732,
"aa_end": null,
"aa_length": 953,
"cds_start": 2194,
"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": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPB1",
"gene_hgnc_id": 2231,
"hgvs_c": "c.2194G>A",
"hgvs_p": "p.Val732Ile",
"transcript": "ENST00000890283.1",
"protein_id": "ENSP00000560342.1",
"transcript_support_level": null,
"aa_start": 732,
"aa_end": null,
"aa_length": 953,
"cds_start": 2194,
"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": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPB1",
"gene_hgnc_id": 2231,
"hgvs_c": "c.2194G>A",
"hgvs_p": "p.Val732Ile",
"transcript": "ENST00000890289.1",
"protein_id": "ENSP00000560348.1",
"transcript_support_level": null,
"aa_start": 732,
"aa_end": null,
"aa_length": 953,
"cds_start": 2194,
"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": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPB1",
"gene_hgnc_id": 2231,
"hgvs_c": "c.2194G>A",
"hgvs_p": "p.Val732Ile",
"transcript": "ENST00000912858.1",
"protein_id": "ENSP00000582917.1",
"transcript_support_level": null,
"aa_start": 732,
"aa_end": null,
"aa_length": 953,
"cds_start": 2194,
"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"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
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"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPB1",
"gene_hgnc_id": 2231,
"hgvs_c": "c.2194G>A",
"hgvs_p": "p.Val732Ile",
"transcript": "ENST00000912859.1",
"protein_id": "ENSP00000582918.1",
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"aa_start": 732,
"aa_end": null,
"aa_length": 953,
"cds_start": 2194,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
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"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": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPB1",
"gene_hgnc_id": 2231,
"hgvs_c": "c.2194G>A",
"hgvs_p": "p.Val732Ile",
"transcript": "ENST00000967459.1",
"protein_id": "ENSP00000637518.1",
"transcript_support_level": null,
"aa_start": 732,
"aa_end": null,
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"cds_start": 2194,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967459.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
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"exon_count": 22,
"intron_rank": null,
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"gene_symbol": "COPB1",
"gene_hgnc_id": 2231,
"hgvs_c": "c.2194G>A",
"hgvs_p": "p.Val732Ile",
"transcript": "ENST00000967460.1",
"protein_id": "ENSP00000637519.1",
"transcript_support_level": null,
"aa_start": 732,
"aa_end": null,
"aa_length": 946,
"cds_start": 2194,
"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": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPB1",
"gene_hgnc_id": 2231,
"hgvs_c": "c.2014G>A",
"hgvs_p": "p.Val672Ile",
"transcript": "ENST00000890287.1",
"protein_id": "ENSP00000560346.1",
"transcript_support_level": null,
"aa_start": 672,
"aa_end": null,
"aa_length": 893,
"cds_start": 2014,
"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",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPB1",
"gene_hgnc_id": 2231,
"hgvs_c": "c.2014G>A",
"hgvs_p": "p.Val672Ile",
"transcript": "ENST00000890295.1",
"protein_id": "ENSP00000560354.1",
"transcript_support_level": null,
"aa_start": 672,
"aa_end": null,
"aa_length": 893,
"cds_start": 2014,
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000890295.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
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"exon_count": 21,
"intron_rank": null,
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"gene_symbol": "COPB1",
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"hgvs_c": "c.2014G>A",
"hgvs_p": "p.Val672Ile",
"transcript": "ENST00000890296.1",
"protein_id": "ENSP00000560355.1",
"transcript_support_level": null,
"aa_start": 672,
"aa_end": null,
"aa_length": 893,
"cds_start": 2014,
"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",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPB1",
"gene_hgnc_id": 2231,
"hgvs_c": "c.1966G>A",
"hgvs_p": "p.Val656Ile",
"transcript": "ENST00000890293.1",
"protein_id": "ENSP00000560352.1",
"transcript_support_level": null,
"aa_start": 656,
"aa_end": null,
"aa_length": 877,
"cds_start": 1966,
"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": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPB1",
"gene_hgnc_id": 2231,
"hgvs_c": "c.1936G>A",
"hgvs_p": "p.Val646Ile",
"transcript": "ENST00000967461.1",
"protein_id": "ENSP00000637520.1",
"transcript_support_level": null,
"aa_start": 646,
"aa_end": null,
"aa_length": 867,
"cds_start": 1936,
"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": "rs771291895",
"frequency_reference_population": 0.000013018638,
"hom_count_reference_population": 0,
"allele_count_reference_population": 21,
"gnomad_exomes_af": 0.000011636,
"gnomad_genomes_af": 0.0000263002,
"gnomad_exomes_ac": 17,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.39074432849884033,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.19,
"revel_prediction": "Benign",
"alphamissense_score": 0.1621,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.17,
"phylop100way_prediction": "Uncertain_significance",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP2,BP4",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 1,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_016451.5",
"gene_symbol": "COPB1",
"hgnc_id": 2231,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.2194G>A",
"hgvs_p": "p.Val732Ile"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}