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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: 2-241654592-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=241654592&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ATG4B",
"hgnc_id": 20790,
"hgvs_c": "c.330C>G",
"hgvs_p": "p.Ser110Arg",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_013325.5",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_score": -4,
"allele_count_reference_population": 42,
"alphamissense_prediction": null,
"alphamissense_score": 0.2016,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.53,
"chr": "2",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.030059069395065308,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 393,
"aa_ref": "S",
"aa_start": 110,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2797,
"cdna_start": 352,
"cds_end": null,
"cds_length": 1182,
"cds_start": 330,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_013325.5",
"gene_hgnc_id": 20790,
"gene_symbol": "ATG4B",
"hgvs_c": "c.330C>G",
"hgvs_p": "p.Ser110Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000404914.8",
"protein_coding": true,
"protein_id": "NP_037457.3",
"strand": true,
"transcript": "NM_013325.5",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 393,
"aa_ref": "S",
"aa_start": 110,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2797,
"cdna_start": 352,
"cds_end": null,
"cds_length": 1182,
"cds_start": 330,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000404914.8",
"gene_hgnc_id": 20790,
"gene_symbol": "ATG4B",
"hgvs_c": "c.330C>G",
"hgvs_p": "p.Ser110Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_013325.5",
"protein_coding": true,
"protein_id": "ENSP00000384259.3",
"strand": true,
"transcript": "ENST00000404914.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2414,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000482507.5",
"gene_hgnc_id": 20790,
"gene_symbol": "ATG4B",
"hgvs_c": "n.410C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000482507.5",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 454,
"aa_ref": "S",
"aa_start": 171,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2985,
"cdna_start": 540,
"cds_end": null,
"cds_length": 1365,
"cds_start": 513,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000902606.1",
"gene_hgnc_id": 20790,
"gene_symbol": "ATG4B",
"hgvs_c": "c.513C>G",
"hgvs_p": "p.Ser171Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572665.1",
"strand": true,
"transcript": "ENST00000902606.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 407,
"aa_ref": "S",
"aa_start": 124,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1611,
"cdna_start": 394,
"cds_end": null,
"cds_length": 1224,
"cds_start": 372,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000902610.1",
"gene_hgnc_id": 20790,
"gene_symbol": "ATG4B",
"hgvs_c": "c.372C>G",
"hgvs_p": "p.Ser124Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572669.1",
"strand": true,
"transcript": "ENST00000902610.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 392,
"aa_ref": "S",
"aa_start": 110,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2796,
"cdna_start": 357,
"cds_end": null,
"cds_length": 1179,
"cds_start": 330,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000951473.1",
"gene_hgnc_id": 20790,
"gene_symbol": "ATG4B",
"hgvs_c": "c.330C>G",
"hgvs_p": "p.Ser110Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621532.1",
"strand": true,
"transcript": "ENST00000951473.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 389,
"aa_ref": "S",
"aa_start": 110,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1562,
"cdna_start": 357,
"cds_end": null,
"cds_length": 1170,
"cds_start": 330,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000951475.1",
"gene_hgnc_id": 20790,
"gene_symbol": "ATG4B",
"hgvs_c": "c.330C>G",
"hgvs_p": "p.Ser110Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621534.1",
"strand": true,
"transcript": "ENST00000951475.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 388,
"aa_ref": "S",
"aa_start": 110,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1264,
"cdna_start": 357,
"cds_end": null,
"cds_length": 1167,
"cds_start": 330,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000902611.1",
"gene_hgnc_id": 20790,
"gene_symbol": "ATG4B",
"hgvs_c": "c.330C>G",
"hgvs_p": "p.Ser110Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572670.1",
"strand": true,
"transcript": "ENST00000902611.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 380,
"aa_ref": "S",
"aa_start": 110,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2817,
"cdna_start": 352,
"cds_end": null,
"cds_length": 1143,
"cds_start": 330,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_178326.3",
"gene_hgnc_id": 20790,
"gene_symbol": "ATG4B",
"hgvs_c": "c.330C>G",
"hgvs_p": "p.Ser110Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_847896.1",
"strand": true,
"transcript": "NM_178326.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 380,
"aa_ref": "S",
"aa_start": 110,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3294,
"cdna_start": 832,
"cds_end": null,
"cds_length": 1143,
"cds_start": 330,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000405546.7",
"gene_hgnc_id": 20790,
"gene_symbol": "ATG4B",
"hgvs_c": "c.330C>G",
"hgvs_p": "p.Ser110Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000383964.3",
"strand": true,
"transcript": "ENST00000405546.7",
"transcript_support_level": 2
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 369,
"aa_ref": "S",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2791,
"cdna_start": 346,
"cds_end": null,
"cds_length": 1110,
"cds_start": 258,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000902605.1",
"gene_hgnc_id": 20790,
"gene_symbol": "ATG4B",
"hgvs_c": "c.258C>G",
"hgvs_p": "p.Ser86Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572664.1",
"strand": true,
"transcript": "ENST00000902605.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 365,
"aa_ref": "S",
"aa_start": 110,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2717,
"cdna_start": 356,
"cds_end": null,
"cds_length": 1098,
"cds_start": 330,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000929774.1",
"gene_hgnc_id": 20790,
"gene_symbol": "ATG4B",
"hgvs_c": "c.330C>G",
"hgvs_p": "p.Ser110Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599833.1",
"strand": true,
"transcript": "ENST00000929774.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 360,
"aa_ref": "S",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2698,
"cdna_start": 253,
"cds_end": null,
"cds_length": 1083,
"cds_start": 231,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000902608.1",
"gene_hgnc_id": 20790,
"gene_symbol": "ATG4B",
"hgvs_c": "c.231C>G",
"hgvs_p": "p.Ser77Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572667.1",
"strand": true,
"transcript": "ENST00000902608.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 358,
"aa_ref": "S",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2692,
"cdna_start": 280,
"cds_end": null,
"cds_length": 1077,
"cds_start": 258,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000902607.1",
"gene_hgnc_id": 20790,
"gene_symbol": "ATG4B",
"hgvs_c": "c.258C>G",
"hgvs_p": "p.Ser86Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572666.1",
"strand": true,
"transcript": "ENST00000902607.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 336,
"aa_ref": "S",
"aa_start": 53,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1400,
"cdna_start": 186,
"cds_end": null,
"cds_length": 1011,
"cds_start": 159,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000951476.1",
"gene_hgnc_id": 20790,
"gene_symbol": "ATG4B",
"hgvs_c": "c.159C>G",
"hgvs_p": "p.Ser53Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621535.1",
"strand": true,
"transcript": "ENST00000951476.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 335,
"aa_ref": "S",
"aa_start": 52,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2609,
"cdna_start": 174,
"cds_end": null,
"cds_length": 1008,
"cds_start": 156,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000902609.1",
"gene_hgnc_id": 20790,
"gene_symbol": "ATG4B",
"hgvs_c": "c.156C>G",
"hgvs_p": "p.Ser52Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572668.1",
"strand": true,
"transcript": "ENST00000902609.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 331,
"aa_ref": "S",
"aa_start": 36,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1685,
"cdna_start": 433,
"cds_end": null,
"cds_length": 996,
"cds_start": 108,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000402096.5",
"gene_hgnc_id": 20790,
"gene_symbol": "ATG4B",
"hgvs_c": "c.108C>G",
"hgvs_p": "p.Ser36Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000384661.1",
"strand": true,
"transcript": "ENST00000402096.5",
"transcript_support_level": 2
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 318,
"aa_ref": "S",
"aa_start": 110,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2576,
"cdna_start": 356,
"cds_end": null,
"cds_length": 957,
"cds_start": 330,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000929775.1",
"gene_hgnc_id": 20790,
"gene_symbol": "ATG4B",
"hgvs_c": "c.330C>G",
"hgvs_p": "p.Ser110Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599834.1",
"strand": true,
"transcript": "ENST00000929775.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 309,
"aa_ref": "S",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2545,
"cdna_start": 253,
"cds_end": null,
"cds_length": 930,
"cds_start": 231,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000929777.1",
"gene_hgnc_id": 20790,
"gene_symbol": "ATG4B",
"hgvs_c": "c.231C>G",
"hgvs_p": "p.Ser77Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599836.1",
"strand": true,
"transcript": "ENST00000929777.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 306,
"aa_ref": "S",
"aa_start": 36,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1275,
"cdna_start": 462,
"cds_end": null,
"cds_length": 921,
"cds_start": 108,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000419606.6",
"gene_hgnc_id": 20790,
"gene_symbol": "ATG4B",
"hgvs_c": "c.108C>G",
"hgvs_p": "p.Ser36Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000400050.2",
"strand": true,
"transcript": "ENST00000419606.6",
"transcript_support_level": 4
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 218,
"aa_ref": "S",
"aa_start": 110,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 663,
"cdna_start": 335,
"cds_end": null,
"cds_length": 658,
"cds_start": 330,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000400771.7",
"gene_hgnc_id": 20790,
"gene_symbol": "ATG4B",
"hgvs_c": "c.330C>G",
"hgvs_p": "p.Ser110Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
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