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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: 1-160311950-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=160311950&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 160311950,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000241704.8",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPA",
"gene_hgnc_id": 2230,
"hgvs_c": "c.994A>G",
"hgvs_p": "p.Met332Val",
"transcript": "NM_004371.4",
"protein_id": "NP_004362.2",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 1224,
"cds_start": 994,
"cds_end": null,
"cds_length": 3675,
"cdna_start": 1074,
"cdna_end": null,
"cdna_length": 5318,
"mane_select": "ENST00000241704.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPA",
"gene_hgnc_id": 2230,
"hgvs_c": "c.994A>G",
"hgvs_p": "p.Met332Val",
"transcript": "ENST00000241704.8",
"protein_id": "ENSP00000241704.7",
"transcript_support_level": 1,
"aa_start": 332,
"aa_end": null,
"aa_length": 1224,
"cds_start": 994,
"cds_end": null,
"cds_length": 3675,
"cdna_start": 1074,
"cdna_end": null,
"cdna_length": 5318,
"mane_select": "NM_004371.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPA",
"gene_hgnc_id": 2230,
"hgvs_c": "c.994A>G",
"hgvs_p": "p.Met332Val",
"transcript": "ENST00000368069.7",
"protein_id": "ENSP00000357048.3",
"transcript_support_level": 1,
"aa_start": 332,
"aa_end": null,
"aa_length": 1233,
"cds_start": 994,
"cds_end": null,
"cds_length": 3702,
"cdna_start": 1072,
"cdna_end": null,
"cdna_length": 4664,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPA",
"gene_hgnc_id": 2230,
"hgvs_c": "c.994A>G",
"hgvs_p": "p.Met332Val",
"transcript": "NM_001098398.2",
"protein_id": "NP_001091868.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 1233,
"cds_start": 994,
"cds_end": null,
"cds_length": 3702,
"cdna_start": 1074,
"cdna_end": null,
"cdna_length": 5345,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPA",
"gene_hgnc_id": 2230,
"hgvs_c": "c.994A>G",
"hgvs_p": "p.Met332Val",
"transcript": "ENST00000647683.1",
"protein_id": "ENSP00000497495.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 1204,
"cds_start": 994,
"cds_end": null,
"cds_length": 3615,
"cdna_start": 1076,
"cdna_end": null,
"cdna_length": 4239,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPA",
"gene_hgnc_id": 2230,
"hgvs_c": "c.994A>G",
"hgvs_p": "p.Met332Val",
"transcript": "ENST00000649787.1",
"protein_id": "ENSP00000497231.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 1204,
"cds_start": 994,
"cds_end": null,
"cds_length": 3615,
"cdna_start": 1082,
"cdna_end": null,
"cdna_length": 4567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPA",
"gene_hgnc_id": 2230,
"hgvs_c": "c.541A>G",
"hgvs_p": "p.Met181Val",
"transcript": "ENST00000649676.1",
"protein_id": "ENSP00000497257.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 1024,
"cds_start": 541,
"cds_end": null,
"cds_length": 3075,
"cdna_start": 541,
"cdna_end": null,
"cdna_length": 4031,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPA",
"gene_hgnc_id": 2230,
"hgvs_c": "c.511A>G",
"hgvs_p": "p.Met171Val",
"transcript": "ENST00000647899.1",
"protein_id": "ENSP00000498078.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 680,
"cds_start": 511,
"cds_end": null,
"cds_length": 2044,
"cdna_start": 513,
"cdna_end": null,
"cdna_length": 2046,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPA",
"gene_hgnc_id": 2230,
"hgvs_c": "n.2078A>G",
"hgvs_p": null,
"transcript": "ENST00000647693.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5462,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPA",
"gene_hgnc_id": 2230,
"hgvs_c": "n.*431A>G",
"hgvs_p": null,
"transcript": "ENST00000647799.1",
"protein_id": "ENSP00000497970.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4454,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPA",
"gene_hgnc_id": 2230,
"hgvs_c": "n.*102A>G",
"hgvs_p": null,
"transcript": "ENST00000648501.1",
"protein_id": "ENSP00000498118.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3524,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPA",
"gene_hgnc_id": 2230,
"hgvs_c": "n.994A>G",
"hgvs_p": null,
"transcript": "ENST00000648805.1",
"protein_id": "ENSP00000497433.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4504,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPA",
"gene_hgnc_id": 2230,
"hgvs_c": "n.994A>G",
"hgvs_p": null,
"transcript": "ENST00000649231.1",
"protein_id": "ENSP00000498061.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3969,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPA",
"gene_hgnc_id": 2230,
"hgvs_c": "n.*683A>G",
"hgvs_p": null,
"transcript": "ENST00000649963.1",
"protein_id": "ENSP00000498129.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPA",
"gene_hgnc_id": 2230,
"hgvs_c": "n.*431A>G",
"hgvs_p": null,
"transcript": "ENST00000650154.1",
"protein_id": "ENSP00000497094.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 4458,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPA",
"gene_hgnc_id": 2230,
"hgvs_c": "n.666A>G",
"hgvs_p": null,
"transcript": "ENST00000696202.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPA",
"gene_hgnc_id": 2230,
"hgvs_c": "n.3478A>G",
"hgvs_p": null,
"transcript": "ENST00000696203.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 7657,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPA",
"gene_hgnc_id": 2230,
"hgvs_c": "n.3685A>G",
"hgvs_p": null,
"transcript": "ENST00000696204.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7864,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPA",
"gene_hgnc_id": 2230,
"hgvs_c": "n.765A>G",
"hgvs_p": null,
"transcript": "ENST00000696206.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPA",
"gene_hgnc_id": 2230,
"hgvs_c": "n.991A>G",
"hgvs_p": null,
"transcript": "ENST00000696207.1",
"protein_id": null,
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"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPA",
"gene_hgnc_id": 2230,
"hgvs_c": "n.1097A>G",
"hgvs_p": null,
"transcript": "ENST00000696208.1",
"protein_id": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPA",
"gene_hgnc_id": 2230,
"hgvs_c": "n.1390A>G",
"hgvs_p": null,
"transcript": "ENST00000696209.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4908,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPA",
"gene_hgnc_id": 2230,
"hgvs_c": "n.1390A>G",
"hgvs_p": null,
"transcript": "ENST00000696210.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 3906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
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],
"gene_symbol": "COPA",
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"dbsnp": "rs115066135",
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"hom_count_reference_population": 4,
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"gnomad_mito_homoplasmic": null,
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"computational_score_selected": 0.009793341159820557,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.087,
"revel_prediction": "Benign",
"alphamissense_score": 0.0524,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.31,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.903,
"phylop100way_prediction": "Benign",
"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,
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"acmg_score": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
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"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000241704.8",
"gene_symbol": "COPA",
"hgnc_id": 2230,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.994A>G",
"hgvs_p": "p.Met332Val"
}
],
"clinvar_disease": "Autoimmune interstitial lung disease-arthritis syndrome,COPA-related disorder,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "Autoimmune interstitial lung disease-arthritis syndrome|COPA-related disorder|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}