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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: 2-37645960-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=37645960&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 37645960,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_006449.5",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42EP3",
"gene_hgnc_id": 16943,
"hgvs_c": "c.628C>A",
"hgvs_p": "p.Pro210Thr",
"transcript": "NM_006449.5",
"protein_id": "NP_006440.2",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 254,
"cds_start": 628,
"cds_end": null,
"cds_length": 765,
"cdna_start": 1080,
"cdna_end": null,
"cdna_length": 5096,
"mane_select": "ENST00000295324.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42EP3",
"gene_hgnc_id": 16943,
"hgvs_c": "c.628C>A",
"hgvs_p": "p.Pro210Thr",
"transcript": "ENST00000295324.4",
"protein_id": "ENSP00000295324.3",
"transcript_support_level": 1,
"aa_start": 210,
"aa_end": null,
"aa_length": 254,
"cds_start": 628,
"cds_end": null,
"cds_length": 765,
"cdna_start": 1080,
"cdna_end": null,
"cdna_length": 5096,
"mane_select": "NM_006449.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42EP3",
"gene_hgnc_id": 16943,
"hgvs_c": "c.628C>A",
"hgvs_p": "p.Pro210Thr",
"transcript": "NM_001270436.2",
"protein_id": "NP_001257365.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 254,
"cds_start": 628,
"cds_end": null,
"cds_length": 765,
"cdna_start": 966,
"cdna_end": null,
"cdna_length": 4982,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42EP3",
"gene_hgnc_id": 16943,
"hgvs_c": "c.628C>A",
"hgvs_p": "p.Pro210Thr",
"transcript": "NM_001270437.2",
"protein_id": "NP_001257366.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 254,
"cds_start": 628,
"cds_end": null,
"cds_length": 765,
"cdna_start": 1022,
"cdna_end": null,
"cdna_length": 5038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42EP3",
"gene_hgnc_id": 16943,
"hgvs_c": "c.628C>A",
"hgvs_p": "p.Pro210Thr",
"transcript": "NM_001270438.2",
"protein_id": "NP_001257367.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 254,
"cds_start": 628,
"cds_end": null,
"cds_length": 765,
"cdna_start": 998,
"cdna_end": null,
"cdna_length": 5014,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42EP3",
"gene_hgnc_id": 16943,
"hgvs_c": "c.628C>A",
"hgvs_p": "p.Pro210Thr",
"transcript": "NM_001371569.1",
"protein_id": "NP_001358498.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 254,
"cds_start": 628,
"cds_end": null,
"cds_length": 765,
"cdna_start": 984,
"cdna_end": null,
"cdna_length": 5000,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42EP3",
"gene_hgnc_id": 16943,
"hgvs_c": "c.628C>A",
"hgvs_p": "p.Pro210Thr",
"transcript": "NM_001371570.1",
"protein_id": "NP_001358499.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 254,
"cds_start": 628,
"cds_end": null,
"cds_length": 765,
"cdna_start": 971,
"cdna_end": null,
"cdna_length": 4987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42EP3",
"gene_hgnc_id": 16943,
"hgvs_c": "c.628C>A",
"hgvs_p": "p.Pro210Thr",
"transcript": "ENST00000611976.1",
"protein_id": "ENSP00000480549.1",
"transcript_support_level": 3,
"aa_start": 210,
"aa_end": null,
"aa_length": 254,
"cds_start": 628,
"cds_end": null,
"cds_length": 765,
"cdna_start": 1046,
"cdna_end": null,
"cdna_length": 5124,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42EP3",
"gene_hgnc_id": 16943,
"hgvs_c": "c.628C>A",
"hgvs_p": "p.Pro210Thr",
"transcript": "ENST00000457889.1",
"protein_id": "ENSP00000403298.1",
"transcript_support_level": 2,
"aa_start": 210,
"aa_end": null,
"aa_length": 214,
"cds_start": 628,
"cds_end": null,
"cds_length": 647,
"cdna_start": 978,
"cdna_end": null,
"cdna_length": 997,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42EP3",
"gene_hgnc_id": 16943,
"hgvs_c": "c.628C>A",
"hgvs_p": "p.Pro210Thr",
"transcript": "XM_011532482.4",
"protein_id": "XP_011530784.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 254,
"cds_start": 628,
"cds_end": null,
"cds_length": 765,
"cdna_start": 2914,
"cdna_end": null,
"cdna_length": 6930,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CDC42EP3-AS1",
"gene_hgnc_id": 56370,
"hgvs_c": "n.526-716G>T",
"hgvs_p": null,
"transcript": "ENST00000419425.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 548,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CDC42EP3-AS1",
"gene_hgnc_id": 56370,
"hgvs_c": "n.105-15655G>T",
"hgvs_p": null,
"transcript": "ENST00000702971.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 582,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CDC42EP3-AS1",
"gene_hgnc_id": 56370,
"hgvs_c": "n.659-15655G>T",
"hgvs_p": null,
"transcript": "ENST00000715737.1",
"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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"cdna_length": 1140,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CDC42EP3-AS1",
"gene_hgnc_id": 56370,
"hgvs_c": "n.469+74768G>T",
"hgvs_p": null,
"transcript": "ENST00000751609.1",
"protein_id": null,
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},
{
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"strand": true,
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"intron_variant"
],
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"intron_rank": 3,
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"gene_symbol": "CDC42EP3-AS1",
"gene_hgnc_id": 56370,
"hgvs_c": "n.469+74768G>T",
"hgvs_p": null,
"transcript": "ENST00000751610.1",
"protein_id": null,
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"aa_start": null,
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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": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CDC42EP3-AS1",
"gene_hgnc_id": 56370,
"hgvs_c": "n.282-43098G>T",
"hgvs_p": null,
"transcript": "ENST00000751611.1",
"protein_id": null,
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},
{
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"strand": true,
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],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CDC42EP3-AS1",
"gene_hgnc_id": 56370,
"hgvs_c": "n.470-43098G>T",
"hgvs_p": null,
"transcript": "ENST00000751612.1",
"protein_id": null,
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"aa_start": null,
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"cds_start": -4,
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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": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CDC42EP3-AS1",
"gene_hgnc_id": 56370,
"hgvs_c": "n.313-43098G>T",
"hgvs_p": null,
"transcript": "ENST00000751613.1",
"protein_id": null,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CDC42EP3-AS1",
"gene_hgnc_id": 56370,
"hgvs_c": "n.406+28529G>T",
"hgvs_p": null,
"transcript": "ENST00000751614.1",
"protein_id": null,
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},
{
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],
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"intron_rank": 5,
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"gene_symbol": "CDC42EP3-AS1",
"gene_hgnc_id": 56370,
"hgvs_c": "n.588-15655G>T",
"hgvs_p": null,
"transcript": "ENST00000751615.1",
"protein_id": null,
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},
{
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"strand": true,
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],
"exon_rank": null,
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"intron_rank": 2,
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"gene_symbol": "CDC42EP3-AS1",
"gene_hgnc_id": 56370,
"hgvs_c": "n.287-15655G>T",
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CDC42EP3-AS1",
"gene_hgnc_id": 56370,
"hgvs_c": "n.365-19369G>T",
"hgvs_p": null,
"transcript": "ENST00000751617.1",
"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
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CDC42EP3-AS1",
"gene_hgnc_id": 56370,
"hgvs_c": "n.313-19369G>T",
"hgvs_p": null,
"transcript": "ENST00000751618.1",
"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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{
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],
"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",
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}
],
"message": null
}