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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: 1-160296099-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=160296099&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 160296099,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000241704.8",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPA",
"gene_hgnc_id": 2230,
"hgvs_c": "c.2314G>C",
"hgvs_p": "p.Glu772Gln",
"transcript": "NM_004371.4",
"protein_id": "NP_004362.2",
"transcript_support_level": null,
"aa_start": 772,
"aa_end": null,
"aa_length": 1224,
"cds_start": 2314,
"cds_end": null,
"cds_length": 3675,
"cdna_start": 2394,
"cdna_end": null,
"cdna_length": 5318,
"mane_select": "ENST00000241704.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPA",
"gene_hgnc_id": 2230,
"hgvs_c": "c.2314G>C",
"hgvs_p": "p.Glu772Gln",
"transcript": "ENST00000241704.8",
"protein_id": "ENSP00000241704.7",
"transcript_support_level": 1,
"aa_start": 772,
"aa_end": null,
"aa_length": 1224,
"cds_start": 2314,
"cds_end": null,
"cds_length": 3675,
"cdna_start": 2394,
"cdna_end": null,
"cdna_length": 5318,
"mane_select": "NM_004371.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPA",
"gene_hgnc_id": 2230,
"hgvs_c": "c.2341G>C",
"hgvs_p": "p.Glu781Gln",
"transcript": "ENST00000368069.7",
"protein_id": "ENSP00000357048.3",
"transcript_support_level": 1,
"aa_start": 781,
"aa_end": null,
"aa_length": 1233,
"cds_start": 2341,
"cds_end": null,
"cds_length": 3702,
"cdna_start": 2419,
"cdna_end": null,
"cdna_length": 4664,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPA",
"gene_hgnc_id": 2230,
"hgvs_c": "c.2341G>C",
"hgvs_p": "p.Glu781Gln",
"transcript": "NM_001098398.2",
"protein_id": "NP_001091868.1",
"transcript_support_level": null,
"aa_start": 781,
"aa_end": null,
"aa_length": 1233,
"cds_start": 2341,
"cds_end": null,
"cds_length": 3702,
"cdna_start": 2421,
"cdna_end": null,
"cdna_length": 5345,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPA",
"gene_hgnc_id": 2230,
"hgvs_c": "c.2314G>C",
"hgvs_p": "p.Glu772Gln",
"transcript": "ENST00000647683.1",
"protein_id": "ENSP00000497495.1",
"transcript_support_level": null,
"aa_start": 772,
"aa_end": null,
"aa_length": 1204,
"cds_start": 2314,
"cds_end": null,
"cds_length": 3615,
"cdna_start": 2396,
"cdna_end": null,
"cdna_length": 4239,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPA",
"gene_hgnc_id": 2230,
"hgvs_c": "c.2254G>C",
"hgvs_p": "p.Glu752Gln",
"transcript": "ENST00000649787.1",
"protein_id": "ENSP00000497231.1",
"transcript_support_level": null,
"aa_start": 752,
"aa_end": null,
"aa_length": 1204,
"cds_start": 2254,
"cds_end": null,
"cds_length": 3615,
"cdna_start": 2342,
"cdna_end": null,
"cdna_length": 4567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPA",
"gene_hgnc_id": 2230,
"hgvs_c": "c.1714G>C",
"hgvs_p": "p.Glu572Gln",
"transcript": "ENST00000649676.1",
"protein_id": "ENSP00000497257.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 1024,
"cds_start": 1714,
"cds_end": null,
"cds_length": 3075,
"cdna_start": 1714,
"cdna_end": null,
"cdna_length": 4031,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPA",
"gene_hgnc_id": 2230,
"hgvs_c": "c.1831G>C",
"hgvs_p": "p.Glu611Gln",
"transcript": "ENST00000647899.1",
"protein_id": "ENSP00000498078.1",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 680,
"cds_start": 1831,
"cds_end": null,
"cds_length": 2044,
"cdna_start": 1833,
"cdna_end": null,
"cdna_length": 2046,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPA",
"gene_hgnc_id": 2230,
"hgvs_c": "c.64G>C",
"hgvs_p": "p.Glu22Gln",
"transcript": "ENST00000648280.1",
"protein_id": "ENSP00000497811.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 451,
"cds_start": 64,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 65,
"cdna_end": null,
"cdna_length": 2160,
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPA",
"gene_hgnc_id": 2230,
"hgvs_c": "n.662G>C",
"hgvs_p": null,
"transcript": "ENST00000545284.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 879,
"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": 20,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPA",
"gene_hgnc_id": 2230,
"hgvs_c": "n.3235G>C",
"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": 20,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPA",
"gene_hgnc_id": 2230,
"hgvs_c": "n.*1668G>C",
"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": 16,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPA",
"gene_hgnc_id": 2230,
"hgvs_c": "n.*1422G>C",
"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": 22,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPA",
"gene_hgnc_id": 2230,
"hgvs_c": "n.*845G>C",
"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,
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"cdna_start": null,
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"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": 20,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPA",
"gene_hgnc_id": 2230,
"hgvs_c": "n.*174G>C",
"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": 21,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPA",
"gene_hgnc_id": 2230,
"hgvs_c": "n.*2003G>C",
"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,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPA",
"gene_hgnc_id": 2230,
"hgvs_c": "n.*1751G>C",
"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": 16,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPA",
"gene_hgnc_id": 2230,
"hgvs_c": "n.1986G>C",
"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,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4845,
"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": 18,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPA",
"gene_hgnc_id": 2230,
"hgvs_c": "n.4798G>C",
"hgvs_p": null,
"transcript": "ENST00000696203.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": 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": 20,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPA",
"gene_hgnc_id": 2230,
"hgvs_c": "n.5005G>C",
"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,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"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": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPA",
"gene_hgnc_id": 2230,
"hgvs_c": "n.741G>C",
"hgvs_p": null,
"transcript": "ENST00000696205.1",
"protein_id": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 3573,
"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": 14,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPA",
"gene_hgnc_id": 2230,
"hgvs_c": "n.1775G>C",
"hgvs_p": null,
"transcript": "ENST00000696206.1",
"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": 4607,
"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": 19,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COPA",
"gene_hgnc_id": 2230,
"hgvs_c": "n.3243G>C",
"hgvs_p": null,
"transcript": "ENST00000696207.1",
"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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],
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{
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"verdict": "Uncertain_significance",
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],
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"clinvar_review_status": "criteria provided, single submitter",
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"phenotype_combined": "Autoimmune interstitial lung disease-arthritis syndrome",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}