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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: 2-241666689-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=241666689&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 241666689,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_013325.5",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4B",
"gene_hgnc_id": 20790,
"hgvs_c": "c.583T>G",
"hgvs_p": "p.Phe195Val",
"transcript": "NM_013325.5",
"protein_id": "NP_037457.3",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 393,
"cds_start": 583,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000404914.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013325.5"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4B",
"gene_hgnc_id": 20790,
"hgvs_c": "c.583T>G",
"hgvs_p": "p.Phe195Val",
"transcript": "ENST00000404914.8",
"protein_id": "ENSP00000384259.3",
"transcript_support_level": 1,
"aa_start": 195,
"aa_end": null,
"aa_length": 393,
"cds_start": 583,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_013325.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000404914.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4B",
"gene_hgnc_id": 20790,
"hgvs_c": "n.663T>G",
"hgvs_p": null,
"transcript": "ENST00000482507.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000482507.5"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4B",
"gene_hgnc_id": 20790,
"hgvs_c": "c.766T>G",
"hgvs_p": "p.Phe256Val",
"transcript": "ENST00000902606.1",
"protein_id": "ENSP00000572665.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 454,
"cds_start": 766,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902606.1"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4B",
"gene_hgnc_id": 20790,
"hgvs_c": "c.625T>G",
"hgvs_p": "p.Phe209Val",
"transcript": "ENST00000902610.1",
"protein_id": "ENSP00000572669.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 407,
"cds_start": 625,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902610.1"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4B",
"gene_hgnc_id": 20790,
"hgvs_c": "c.583T>G",
"hgvs_p": "p.Phe195Val",
"transcript": "ENST00000951473.1",
"protein_id": "ENSP00000621532.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 392,
"cds_start": 583,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951473.1"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4B",
"gene_hgnc_id": 20790,
"hgvs_c": "c.571T>G",
"hgvs_p": "p.Phe191Val",
"transcript": "ENST00000951475.1",
"protein_id": "ENSP00000621534.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 389,
"cds_start": 571,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951475.1"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4B",
"gene_hgnc_id": 20790,
"hgvs_c": "c.583T>G",
"hgvs_p": "p.Phe195Val",
"transcript": "ENST00000902611.1",
"protein_id": "ENSP00000572670.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 388,
"cds_start": 583,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902611.1"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4B",
"gene_hgnc_id": 20790,
"hgvs_c": "c.583T>G",
"hgvs_p": "p.Phe195Val",
"transcript": "NM_178326.3",
"protein_id": "NP_847896.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 380,
"cds_start": 583,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_178326.3"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4B",
"gene_hgnc_id": 20790,
"hgvs_c": "c.583T>G",
"hgvs_p": "p.Phe195Val",
"transcript": "ENST00000405546.7",
"protein_id": "ENSP00000383964.3",
"transcript_support_level": 2,
"aa_start": 195,
"aa_end": null,
"aa_length": 380,
"cds_start": 583,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405546.7"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4B",
"gene_hgnc_id": 20790,
"hgvs_c": "c.511T>G",
"hgvs_p": "p.Phe171Val",
"transcript": "ENST00000902605.1",
"protein_id": "ENSP00000572664.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 369,
"cds_start": 511,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902605.1"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4B",
"gene_hgnc_id": 20790,
"hgvs_c": "c.499T>G",
"hgvs_p": "p.Phe167Val",
"transcript": "ENST00000929774.1",
"protein_id": "ENSP00000599833.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 365,
"cds_start": 499,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929774.1"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4B",
"gene_hgnc_id": 20790,
"hgvs_c": "c.484T>G",
"hgvs_p": "p.Phe162Val",
"transcript": "ENST00000902608.1",
"protein_id": "ENSP00000572667.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 360,
"cds_start": 484,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902608.1"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4B",
"gene_hgnc_id": 20790,
"hgvs_c": "c.478T>G",
"hgvs_p": "p.Phe160Val",
"transcript": "ENST00000902607.1",
"protein_id": "ENSP00000572666.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 358,
"cds_start": 478,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902607.1"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4B",
"gene_hgnc_id": 20790,
"hgvs_c": "c.412T>G",
"hgvs_p": "p.Phe138Val",
"transcript": "ENST00000951476.1",
"protein_id": "ENSP00000621535.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 336,
"cds_start": 412,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951476.1"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4B",
"gene_hgnc_id": 20790,
"hgvs_c": "c.409T>G",
"hgvs_p": "p.Phe137Val",
"transcript": "ENST00000902609.1",
"protein_id": "ENSP00000572668.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 335,
"cds_start": 409,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902609.1"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4B",
"gene_hgnc_id": 20790,
"hgvs_c": "c.361T>G",
"hgvs_p": "p.Phe121Val",
"transcript": "ENST00000402096.5",
"protein_id": "ENSP00000384661.1",
"transcript_support_level": 2,
"aa_start": 121,
"aa_end": null,
"aa_length": 331,
"cds_start": 361,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000402096.5"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4B",
"gene_hgnc_id": 20790,
"hgvs_c": "c.583T>G",
"hgvs_p": "p.Phe195Val",
"transcript": "ENST00000929775.1",
"protein_id": "ENSP00000599834.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 318,
"cds_start": 583,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929775.1"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4B",
"gene_hgnc_id": 20790,
"hgvs_c": "c.331T>G",
"hgvs_p": "p.Phe111Val",
"transcript": "ENST00000929777.1",
"protein_id": "ENSP00000599836.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 309,
"cds_start": 331,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929777.1"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4B",
"gene_hgnc_id": 20790,
"hgvs_c": "c.361T>G",
"hgvs_p": "p.Phe121Val",
"transcript": "ENST00000419606.6",
"protein_id": "ENSP00000400050.2",
"transcript_support_level": 4,
"aa_start": 121,
"aa_end": null,
"aa_length": 306,
"cds_start": 361,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000419606.6"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4B",
"gene_hgnc_id": 20790,
"hgvs_c": "c.229T>G",
"hgvs_p": "p.Phe77Val",
"transcript": "ENST00000929776.1",
"protein_id": "ENSP00000599835.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 275,
"cds_start": 229,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929776.1"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4B",
"gene_hgnc_id": 20790,
"hgvs_c": "c.157T>G",
"hgvs_p": "p.Phe53Val",
"transcript": "ENST00000951474.1",
"protein_id": "ENSP00000621533.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 251,
"cds_start": 157,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
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"mane_select": null,
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"splice_prediction_selected": "Benign",
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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",
"custom_annotations": null
}
],
"message": null
}