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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: 16-70265608-CCA-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=70265608&ref=CCA&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 70265608,
"ref": "CCA",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "ENST00000261772.13",
"consequences": [
{
"aa_ref": "TG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS1",
"gene_hgnc_id": 20,
"hgvs_c": "c.1275_1276delTG",
"hgvs_p": "p.Gly426fs",
"transcript": "NM_001605.3",
"protein_id": "NP_001596.2",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 968,
"cds_start": 1275,
"cds_end": null,
"cds_length": 2907,
"cdna_start": 1383,
"cdna_end": null,
"cdna_length": 3437,
"mane_select": "ENST00000261772.13",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TG",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS1",
"gene_hgnc_id": 20,
"hgvs_c": "c.1275_1276delTG",
"hgvs_p": "p.Gly426fs",
"transcript": "ENST00000261772.13",
"protein_id": "ENSP00000261772.8",
"transcript_support_level": 1,
"aa_start": 425,
"aa_end": null,
"aa_length": 968,
"cds_start": 1275,
"cds_end": null,
"cds_length": 2907,
"cdna_start": 1383,
"cdna_end": null,
"cdna_length": 3437,
"mane_select": "NM_001605.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS1",
"gene_hgnc_id": 20,
"hgvs_c": "c.1275_1276delTG",
"hgvs_p": "p.Gly426fs",
"transcript": "ENST00000565361.3",
"protein_id": "ENSP00000455360.3",
"transcript_support_level": 5,
"aa_start": 425,
"aa_end": null,
"aa_length": 999,
"cds_start": 1275,
"cds_end": null,
"cds_length": 3000,
"cdna_start": 1434,
"cdna_end": null,
"cdna_length": 3572,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS1",
"gene_hgnc_id": 20,
"hgvs_c": "c.1275_1276delTG",
"hgvs_p": "p.Gly426fs",
"transcript": "ENST00000675853.1",
"protein_id": "ENSP00000502367.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 984,
"cds_start": 1275,
"cds_end": null,
"cds_length": 2955,
"cdna_start": 1434,
"cdna_end": null,
"cdna_length": 3527,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS1",
"gene_hgnc_id": 20,
"hgvs_c": "c.1275_1276delTG",
"hgvs_p": "p.Gly426fs",
"transcript": "ENST00000675045.1",
"protein_id": "ENSP00000502014.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 977,
"cds_start": 1275,
"cds_end": null,
"cds_length": 2934,
"cdna_start": 1434,
"cdna_end": null,
"cdna_length": 3508,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS1",
"gene_hgnc_id": 20,
"hgvs_c": "c.1275_1276delTG",
"hgvs_p": "p.Gly426fs",
"transcript": "ENST00000674691.1",
"protein_id": "ENSP00000502247.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 968,
"cds_start": 1275,
"cds_end": null,
"cds_length": 2907,
"cdna_start": 1412,
"cdna_end": null,
"cdna_length": 3494,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS1",
"gene_hgnc_id": 20,
"hgvs_c": "c.1275_1276delTG",
"hgvs_p": "p.Gly426fs",
"transcript": "ENST00000674963.1",
"protein_id": "ENSP00000501924.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 968,
"cds_start": 1275,
"cds_end": null,
"cds_length": 2907,
"cdna_start": 1348,
"cdna_end": null,
"cdna_length": 3717,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS1",
"gene_hgnc_id": 20,
"hgvs_c": "c.1275_1276delTG",
"hgvs_p": "p.Gly426fs",
"transcript": "ENST00000675643.1",
"protein_id": "ENSP00000502797.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 968,
"cds_start": 1275,
"cds_end": null,
"cds_length": 2907,
"cdna_start": 1399,
"cdna_end": null,
"cdna_length": 3768,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS1",
"gene_hgnc_id": 20,
"hgvs_c": "c.1275_1276delTG",
"hgvs_p": "p.Gly426fs",
"transcript": "ENST00000674512.1",
"protein_id": "ENSP00000501613.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 961,
"cds_start": 1275,
"cds_end": null,
"cds_length": 2886,
"cdna_start": 1432,
"cdna_end": null,
"cdna_length": 3458,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS1",
"gene_hgnc_id": 20,
"hgvs_c": "c.1275_1276delTG",
"hgvs_p": "p.Gly426fs",
"transcript": "ENST00000675133.1",
"protein_id": "ENSP00000502230.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 959,
"cds_start": 1275,
"cds_end": null,
"cds_length": 2880,
"cdna_start": 1432,
"cdna_end": null,
"cdna_length": 3452,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS1",
"gene_hgnc_id": 20,
"hgvs_c": "c.1191_1192delTG",
"hgvs_p": "p.Gly398fs",
"transcript": "ENST00000675953.1",
"protein_id": "ENSP00000502321.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 940,
"cds_start": 1191,
"cds_end": null,
"cds_length": 2823,
"cdna_start": 1340,
"cdna_end": null,
"cdna_length": 3389,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS1",
"gene_hgnc_id": 20,
"hgvs_c": "c.1146_1147delTG",
"hgvs_p": "p.Gly383fs",
"transcript": "ENST00000675691.1",
"protein_id": "ENSP00000502196.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 925,
"cds_start": 1146,
"cds_end": null,
"cds_length": 2778,
"cdna_start": 1295,
"cdna_end": null,
"cdna_length": 3344,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS1",
"gene_hgnc_id": 20,
"hgvs_c": "c.1275_1276delTG",
"hgvs_p": "p.Gly426fs",
"transcript": "XM_047433666.1",
"protein_id": "XP_047289622.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 734,
"cds_start": 1275,
"cds_end": null,
"cds_length": 2205,
"cdna_start": 1383,
"cdna_end": null,
"cdna_length": 2322,
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS1",
"gene_hgnc_id": 20,
"hgvs_c": "n.1433_1434delTG",
"hgvs_p": null,
"transcript": "ENST00000564359.6",
"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,
"cdna_end": null,
"cdna_length": 2545,
"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": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS1",
"gene_hgnc_id": 20,
"hgvs_c": "n.191_192delTG",
"hgvs_p": null,
"transcript": "ENST00000569790.2",
"protein_id": null,
"transcript_support_level": 5,
"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": 528,
"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": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS1",
"gene_hgnc_id": 20,
"hgvs_c": "n.*302_*303delTG",
"hgvs_p": null,
"transcript": "ENST00000674652.1",
"protein_id": "ENSP00000502620.1",
"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": 3987,
"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": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS1",
"gene_hgnc_id": 20,
"hgvs_c": "n.1275_1276delTG",
"hgvs_p": null,
"transcript": "ENST00000674768.1",
"protein_id": "ENSP00000501679.1",
"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": 3627,
"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": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS1",
"gene_hgnc_id": 20,
"hgvs_c": "n.1324_1325delTG",
"hgvs_p": null,
"transcript": "ENST00000674848.1",
"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": 3699,
"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": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS1",
"gene_hgnc_id": 20,
"hgvs_c": "n.1433_1434delTG",
"hgvs_p": null,
"transcript": "ENST00000674962.1",
"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": 6004,
"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": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS1",
"gene_hgnc_id": 20,
"hgvs_c": "n.1275_1276delTG",
"hgvs_p": null,
"transcript": "ENST00000675035.1",
"protein_id": "ENSP00000502712.1",
"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": 3461,
"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": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS1",
"gene_hgnc_id": 20,
"hgvs_c": "n.1275_1276delTG",
"hgvs_p": null,
"transcript": "ENST00000675120.1",
"protein_id": "ENSP00000502823.1",
"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": 3472,
"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": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS1",
"gene_hgnc_id": 20,
"hgvs_c": "n.1410_1411delTG",
"hgvs_p": null,
"transcript": "ENST00000675270.1",
"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": 3460,
"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": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS1",
"gene_hgnc_id": 20,
"hgvs_c": "n.1275_1276delTG",
"hgvs_p": null,
"transcript": "ENST00000675297.1",
"protein_id": "ENSP00000502753.1",
"transcript_support_level": null,
"aa_start": null,
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"score": 12,
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"pathogenic_score": 12,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "ENST00000261772.13",
"gene_symbol": "AARS1",
"hgnc_id": 20,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD,AR,Unknown",
"hgvs_c": "c.1275_1276delTG",
"hgvs_p": "p.Gly426fs"
}
],
"clinvar_disease": "Charcot-Marie-Tooth disease type 2",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Charcot-Marie-Tooth disease type 2",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}