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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: 9-128424539-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=128424539&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CERCAM",
"hgnc_id": 23723,
"hgvs_c": "c.691T>A",
"hgvs_p": "p.Phe231Ile",
"inheritance_mode": "AR",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_016174.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 36,
"alphamissense_prediction": null,
"alphamissense_score": 0.9122,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.2,
"chr": "9",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9205398559570312,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 595,
"aa_ref": "F",
"aa_start": 231,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2308,
"cdna_start": 712,
"cds_end": null,
"cds_length": 1788,
"cds_start": 691,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_016174.5",
"gene_hgnc_id": 23723,
"gene_symbol": "CERCAM",
"hgvs_c": "c.691T>A",
"hgvs_p": "p.Phe231Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000372838.9",
"protein_coding": true,
"protein_id": "NP_057258.3",
"strand": true,
"transcript": "NM_016174.5",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 595,
"aa_ref": "F",
"aa_start": 231,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2308,
"cdna_start": 712,
"cds_end": null,
"cds_length": 1788,
"cds_start": 691,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000372838.9",
"gene_hgnc_id": 23723,
"gene_symbol": "CERCAM",
"hgvs_c": "c.691T>A",
"hgvs_p": "p.Phe231Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_016174.5",
"protein_coding": true,
"protein_id": "ENSP00000361929.4",
"strand": true,
"transcript": "ENST00000372838.9",
"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": 1205,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000463535.5",
"gene_hgnc_id": 23723,
"gene_symbol": "CERCAM",
"hgvs_c": "n.367T>A",
"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": "ENST00000463535.5",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 619,
"aa_ref": "F",
"aa_start": 255,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2379,
"cdna_start": 783,
"cds_end": null,
"cds_length": 1860,
"cds_start": 763,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000951772.1",
"gene_hgnc_id": 23723,
"gene_symbol": "CERCAM",
"hgvs_c": "c.763T>A",
"hgvs_p": "p.Phe255Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621831.1",
"strand": true,
"transcript": "ENST00000951772.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 606,
"aa_ref": "F",
"aa_start": 231,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2336,
"cdna_start": 711,
"cds_end": null,
"cds_length": 1821,
"cds_start": 691,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000951773.1",
"gene_hgnc_id": 23723,
"gene_symbol": "CERCAM",
"hgvs_c": "c.691T>A",
"hgvs_p": "p.Phe231Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621832.1",
"strand": true,
"transcript": "ENST00000951773.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 596,
"aa_ref": "F",
"aa_start": 232,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2350,
"cdna_start": 754,
"cds_end": null,
"cds_length": 1791,
"cds_start": 694,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000951767.1",
"gene_hgnc_id": 23723,
"gene_symbol": "CERCAM",
"hgvs_c": "c.694T>A",
"hgvs_p": "p.Phe232Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621826.1",
"strand": true,
"transcript": "ENST00000951767.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 595,
"aa_ref": "F",
"aa_start": 231,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2323,
"cdna_start": 733,
"cds_end": null,
"cds_length": 1788,
"cds_start": 691,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000951770.1",
"gene_hgnc_id": 23723,
"gene_symbol": "CERCAM",
"hgvs_c": "c.691T>A",
"hgvs_p": "p.Phe231Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621829.1",
"strand": true,
"transcript": "ENST00000951770.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 583,
"aa_ref": "F",
"aa_start": 219,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2278,
"cdna_start": 685,
"cds_end": null,
"cds_length": 1752,
"cds_start": 655,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000951771.1",
"gene_hgnc_id": 23723,
"gene_symbol": "CERCAM",
"hgvs_c": "c.655T>A",
"hgvs_p": "p.Phe219Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621830.1",
"strand": true,
"transcript": "ENST00000951771.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 582,
"aa_ref": "F",
"aa_start": 231,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2314,
"cdna_start": 753,
"cds_end": null,
"cds_length": 1749,
"cds_start": 691,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000895870.1",
"gene_hgnc_id": 23723,
"gene_symbol": "CERCAM",
"hgvs_c": "c.691T>A",
"hgvs_p": "p.Phe231Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565929.1",
"strand": true,
"transcript": "ENST00000895870.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 575,
"aa_ref": "F",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2277,
"cdna_start": 677,
"cds_end": null,
"cds_length": 1728,
"cds_start": 631,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000895872.1",
"gene_hgnc_id": 23723,
"gene_symbol": "CERCAM",
"hgvs_c": "c.631T>A",
"hgvs_p": "p.Phe211Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565931.1",
"strand": true,
"transcript": "ENST00000895872.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 550,
"aa_ref": "F",
"aa_start": 186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2205,
"cdna_start": 605,
"cds_end": null,
"cds_length": 1653,
"cds_start": 556,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000951768.1",
"gene_hgnc_id": 23723,
"gene_symbol": "CERCAM",
"hgvs_c": "c.556T>A",
"hgvs_p": "p.Phe186Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621827.1",
"strand": true,
"transcript": "ENST00000951768.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 527,
"aa_ref": "F",
"aa_start": 231,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2133,
"cdna_start": 737,
"cds_end": null,
"cds_length": 1584,
"cds_start": 691,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000895871.1",
"gene_hgnc_id": 23723,
"gene_symbol": "CERCAM",
"hgvs_c": "c.691T>A",
"hgvs_p": "p.Phe231Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565930.1",
"strand": true,
"transcript": "ENST00000895871.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 517,
"aa_ref": "F",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2213,
"cdna_start": 613,
"cds_end": null,
"cds_length": 1554,
"cds_start": 457,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001286760.1",
"gene_hgnc_id": 23723,
"gene_symbol": "CERCAM",
"hgvs_c": "c.457T>A",
"hgvs_p": "p.Phe153Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001273689.1",
"strand": true,
"transcript": "NM_001286760.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 517,
"aa_ref": "F",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5201,
"cdna_start": 3601,
"cds_end": null,
"cds_length": 1554,
"cds_start": 457,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000372842.5",
"gene_hgnc_id": 23723,
"gene_symbol": "CERCAM",
"hgvs_c": "c.457T>A",
"hgvs_p": "p.Phe153Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000361933.1",
"strand": true,
"transcript": "ENST00000372842.5",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 508,
"aa_ref": "F",
"aa_start": 231,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2077,
"cdna_start": 745,
"cds_end": null,
"cds_length": 1527,
"cds_start": 691,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000951769.1",
"gene_hgnc_id": 23723,
"gene_symbol": "CERCAM",
"hgvs_c": "c.691T>A",
"hgvs_p": "p.Phe231Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621828.1",
"strand": true,
"transcript": "ENST00000951769.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 440,
"aa_ref": "F",
"aa_start": 231,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1837,
"cdna_start": 706,
"cds_end": null,
"cds_length": 1323,
"cds_start": 691,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000895873.1",
"gene_hgnc_id": 23723,
"gene_symbol": "CERCAM",
"hgvs_c": "c.691T>A",
"hgvs_p": "p.Phe231Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565932.1",
"strand": true,
"transcript": "ENST00000895873.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 217,
"aa_ref": "F",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 887,
"cdna_start": 690,
"cds_end": null,
"cds_length": 654,
"cds_start": 457,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000420512.5",
"gene_hgnc_id": 23723,
"gene_symbol": "CERCAM",
"hgvs_c": "c.457T>A",
"hgvs_p": "p.Phe153Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000416676.1",
"strand": true,
"transcript": "ENST00000420512.5",
"transcript_support_level": 3
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 517,
"aa_ref": "F",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3358,
"cdna_start": 1758,
"cds_end": null,
"cds_length": 1554,
"cds_start": 457,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_011518763.4",
"gene_hgnc_id": 23723,
"gene_symbol": "CERCAM",
"hgvs_c": "c.457T>A",
"hgvs_p": "p.Phe153Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011517065.1",
"strand": true,
"transcript": "XM_011518763.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 517,
"aa_ref": "F",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2620,
"cdna_start": 1020,
"cds_end": null,
"cds_length": 1554,
"cds_start": 457,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047423450.1",
"gene_hgnc_id": 23723,
"gene_symbol": "CERCAM",
"hgvs_c": "c.457T>A",
"hgvs_p": "p.Phe153Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047279406.1",
"strand": true,
"transcript": "XM_047423450.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 587,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000483893.5",
"gene_hgnc_id": 23723,
"gene_symbol": "CERCAM",
"hgvs_c": "n.197T>A",
"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": "ENST00000483893.5",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 553,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000487001.6",
"gene_hgnc_id": 23723,
"gene_symbol": "CERCAM",
"hgvs_c": "n.-63T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
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