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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: 5-138287173-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=138287173&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 138287173,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001287583.2",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC25C",
"gene_hgnc_id": 1727,
"hgvs_c": "c.1022T>A",
"hgvs_p": "p.Ile341Asn",
"transcript": "NM_001790.5",
"protein_id": "NP_001781.2",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 473,
"cds_start": 1022,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000323760.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001790.5"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC25C",
"gene_hgnc_id": 1727,
"hgvs_c": "c.1022T>A",
"hgvs_p": "p.Ile341Asn",
"transcript": "ENST00000323760.11",
"protein_id": "ENSP00000321656.6",
"transcript_support_level": 1,
"aa_start": 341,
"aa_end": null,
"aa_length": 473,
"cds_start": 1022,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001790.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000323760.11"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC25C",
"gene_hgnc_id": 1727,
"hgvs_c": "c.1256T>A",
"hgvs_p": "p.Ile419Asn",
"transcript": "NM_001287583.2",
"protein_id": "NP_001274512.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 551,
"cds_start": 1256,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287583.2"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC25C",
"gene_hgnc_id": 1727,
"hgvs_c": "c.1193T>A",
"hgvs_p": "p.Ile398Asn",
"transcript": "NM_001364026.1",
"protein_id": "NP_001350955.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 530,
"cds_start": 1193,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364026.1"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC25C",
"gene_hgnc_id": 1727,
"hgvs_c": "c.1073T>A",
"hgvs_p": "p.Ile358Asn",
"transcript": "NM_001318098.2",
"protein_id": "NP_001305027.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 490,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318098.2"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC25C",
"gene_hgnc_id": 1727,
"hgvs_c": "c.1022T>A",
"hgvs_p": "p.Ile341Asn",
"transcript": "NM_001287582.2",
"protein_id": "NP_001274511.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 473,
"cds_start": 1022,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287582.2"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC25C",
"gene_hgnc_id": 1727,
"hgvs_c": "c.1022T>A",
"hgvs_p": "p.Ile341Asn",
"transcript": "ENST00000513970.5",
"protein_id": "ENSP00000424795.1",
"transcript_support_level": 2,
"aa_start": 341,
"aa_end": null,
"aa_length": 473,
"cds_start": 1022,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000513970.5"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC25C",
"gene_hgnc_id": 1727,
"hgvs_c": "c.1022T>A",
"hgvs_p": "p.Ile341Asn",
"transcript": "ENST00000920904.1",
"protein_id": "ENSP00000590963.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 473,
"cds_start": 1022,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920904.1"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC25C",
"gene_hgnc_id": 1727,
"hgvs_c": "c.932T>A",
"hgvs_p": "p.Ile311Asn",
"transcript": "ENST00000514555.5",
"protein_id": "ENSP00000425470.1",
"transcript_support_level": 5,
"aa_start": 311,
"aa_end": null,
"aa_length": 443,
"cds_start": 932,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000514555.5"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC25C",
"gene_hgnc_id": 1727,
"hgvs_c": "c.920T>A",
"hgvs_p": "p.Ile307Asn",
"transcript": "NM_001364027.1",
"protein_id": "NP_001350956.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 439,
"cds_start": 920,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364027.1"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC25C",
"gene_hgnc_id": 1727,
"hgvs_c": "c.920T>A",
"hgvs_p": "p.Ile307Asn",
"transcript": "ENST00000875200.1",
"protein_id": "ENSP00000545259.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 439,
"cds_start": 920,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875200.1"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC25C",
"gene_hgnc_id": 1727,
"hgvs_c": "c.908T>A",
"hgvs_p": "p.Ile303Asn",
"transcript": "ENST00000920905.1",
"protein_id": "ENSP00000590964.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 435,
"cds_start": 908,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920905.1"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC25C",
"gene_hgnc_id": 1727,
"hgvs_c": "c.893T>A",
"hgvs_p": "p.Ile298Asn",
"transcript": "NM_001364028.1",
"protein_id": "NP_001350957.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 430,
"cds_start": 893,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364028.1"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC25C",
"gene_hgnc_id": 1727,
"hgvs_c": "c.893T>A",
"hgvs_p": "p.Ile298Asn",
"transcript": "ENST00000920896.1",
"protein_id": "ENSP00000590955.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 430,
"cds_start": 893,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920896.1"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC25C",
"gene_hgnc_id": 1727,
"hgvs_c": "c.893T>A",
"hgvs_p": "p.Ile298Asn",
"transcript": "ENST00000920900.1",
"protein_id": "ENSP00000590959.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 430,
"cds_start": 893,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920900.1"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC25C",
"gene_hgnc_id": 1727,
"hgvs_c": "c.866T>A",
"hgvs_p": "p.Ile289Asn",
"transcript": "ENST00000920907.1",
"protein_id": "ENSP00000590966.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 421,
"cds_start": 866,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920907.1"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC25C",
"gene_hgnc_id": 1727,
"hgvs_c": "c.803T>A",
"hgvs_p": "p.Ile268Asn",
"transcript": "NM_022809.4",
"protein_id": "NP_073720.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 400,
"cds_start": 803,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022809.4"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC25C",
"gene_hgnc_id": 1727,
"hgvs_c": "c.803T>A",
"hgvs_p": "p.Ile268Asn",
"transcript": "ENST00000415130.6",
"protein_id": "ENSP00000392631.2",
"transcript_support_level": 5,
"aa_start": 268,
"aa_end": null,
"aa_length": 400,
"cds_start": 803,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000415130.6"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC25C",
"gene_hgnc_id": 1727,
"hgvs_c": "c.803T>A",
"hgvs_p": "p.Ile268Asn",
"transcript": "ENST00000875201.1",
"protein_id": "ENSP00000545260.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 400,
"cds_start": 803,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875201.1"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC25C",
"gene_hgnc_id": 1727,
"hgvs_c": "c.752T>A",
"hgvs_p": "p.Ile251Asn",
"transcript": "ENST00000920912.1",
"protein_id": "ENSP00000590971.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 383,
"cds_start": 752,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920912.1"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC25C",
"gene_hgnc_id": 1727,
"hgvs_c": "c.740T>A",
"hgvs_p": "p.Ile247Asn",
"transcript": "ENST00000920901.1",
"protein_id": "ENSP00000590960.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 379,
"cds_start": 740,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920901.1"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC25C",
"gene_hgnc_id": 1727,
"hgvs_c": "c.710T>A",
"hgvs_p": "p.Ile237Asn",
"transcript": "ENST00000920910.1",
"protein_id": "ENSP00000590969.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 369,
"cds_start": 710,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
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"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001287583.2",
"gene_symbol": "CDC25C",
"hgnc_id": 1727,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1256T>A",
"hgvs_p": "p.Ile419Asn"
}
],
"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
}