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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: 1-169851821-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=169851821&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 10,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "FIRRM",
"hgnc_id": 25565,
"hgvs_c": "c.2423G>A",
"hgvs_p": "p.Gly808Glu",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -10,
"transcript": "NM_001366769.1",
"verdict": "Benign"
},
{
"benign_score": 10,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS2"
],
"effects": [
"3_prime_UTR_variant"
],
"gene_symbol": "SCYL3",
"hgnc_id": 19285,
"hgvs_c": "c.*1892C>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -10,
"transcript": "NM_181093.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BS2",
"acmg_score": -10,
"allele_count_reference_population": 6027,
"alphamissense_prediction": null,
"alphamissense_score": 0.1236,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.6,
"chr": "1",
"clinvar_classification": "Likely benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.004492849111557007,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 853,
"aa_ref": "G",
"aa_start": 750,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4011,
"cdna_start": 2605,
"cds_end": null,
"cds_length": 2562,
"cds_start": 2249,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_001320047.2",
"gene_hgnc_id": 25565,
"gene_symbol": "FIRRM",
"hgvs_c": "c.2249G>A",
"hgvs_p": "p.Gly750Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000359326.9",
"protein_coding": true,
"protein_id": "NP_001306976.1",
"strand": true,
"transcript": "NM_001320047.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 853,
"aa_ref": "G",
"aa_start": 750,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4011,
"cdna_start": 2605,
"cds_end": null,
"cds_length": 2562,
"cds_start": 2249,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000359326.9",
"gene_hgnc_id": 25565,
"gene_symbol": "FIRRM",
"hgvs_c": "c.2249G>A",
"hgvs_p": "p.Gly750Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001320047.2",
"protein_coding": true,
"protein_id": "ENSP00000352276.4",
"strand": true,
"transcript": "ENST00000359326.9",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 853,
"aa_ref": "G",
"aa_start": 750,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4355,
"cdna_start": 2949,
"cds_end": null,
"cds_length": 2562,
"cds_start": 2249,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000286031.10",
"gene_hgnc_id": 25565,
"gene_symbol": "FIRRM",
"hgvs_c": "c.2249G>A",
"hgvs_p": "p.Gly750Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000286031.6",
"strand": true,
"transcript": "ENST00000286031.10",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 530,
"aa_ref": "G",
"aa_start": 427,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2661,
"cdna_start": 2298,
"cds_end": null,
"cds_length": 1593,
"cds_start": 1280,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000413811.3",
"gene_hgnc_id": 25565,
"gene_symbol": "FIRRM",
"hgvs_c": "c.1280G>A",
"hgvs_p": "p.Gly427Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000389257.3",
"strand": true,
"transcript": "ENST00000413811.3",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 688,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6308,
"cdna_start": null,
"cds_end": null,
"cds_length": 2067,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_020423.7",
"gene_hgnc_id": 19285,
"gene_symbol": "SCYL3",
"hgvs_c": "c.*1892C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000367771.11",
"protein_coding": true,
"protein_id": "NP_065156.5",
"strand": false,
"transcript": "NM_020423.7",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 688,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6308,
"cdna_start": null,
"cds_end": null,
"cds_length": 2067,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000367771.11",
"gene_hgnc_id": 19285,
"gene_symbol": "SCYL3",
"hgvs_c": "c.*1892C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_020423.7",
"protein_coding": true,
"protein_id": "ENSP00000356745.5",
"strand": false,
"transcript": "ENST00000367771.11",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 911,
"aa_ref": "G",
"aa_start": 808,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3892,
"cdna_start": 2486,
"cds_end": null,
"cds_length": 2736,
"cds_start": 2423,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_001366769.1",
"gene_hgnc_id": 25565,
"gene_symbol": "FIRRM",
"hgvs_c": "c.2423G>A",
"hgvs_p": "p.Gly808Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001353698.1",
"strand": true,
"transcript": "NM_001366769.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 884,
"aa_ref": "G",
"aa_start": 808,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4745,
"cdna_start": 2486,
"cds_end": null,
"cds_length": 2655,
"cds_start": 2423,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_001366770.1",
"gene_hgnc_id": 25565,
"gene_symbol": "FIRRM",
"hgvs_c": "c.2423G>A",
"hgvs_p": "p.Gly808Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001353699.1",
"strand": true,
"transcript": "NM_001366770.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 853,
"aa_ref": "G",
"aa_start": 750,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4604,
"cdna_start": 3198,
"cds_end": null,
"cds_length": 2562,
"cds_start": 2249,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000909928.1",
"gene_hgnc_id": 25565,
"gene_symbol": "FIRRM",
"hgvs_c": "c.2249G>A",
"hgvs_p": "p.Gly750Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579987.1",
"strand": true,
"transcript": "ENST00000909928.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 853,
"aa_ref": "G",
"aa_start": 750,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3340,
"cdna_start": 2935,
"cds_end": null,
"cds_length": 2562,
"cds_start": 2249,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000909929.1",
"gene_hgnc_id": 25565,
"gene_symbol": "FIRRM",
"hgvs_c": "c.2249G>A",
"hgvs_p": "p.Gly750Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579988.1",
"strand": true,
"transcript": "ENST00000909929.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 853,
"aa_ref": "G",
"aa_start": 750,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3178,
"cdna_start": 2766,
"cds_end": null,
"cds_length": 2562,
"cds_start": 2249,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000909930.1",
"gene_hgnc_id": 25565,
"gene_symbol": "FIRRM",
"hgvs_c": "c.2249G>A",
"hgvs_p": "p.Gly750Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579989.1",
"strand": true,
"transcript": "ENST00000909930.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 853,
"aa_ref": "G",
"aa_start": 750,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3013,
"cdna_start": 2602,
"cds_end": null,
"cds_length": 2562,
"cds_start": 2249,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000909931.1",
"gene_hgnc_id": 25565,
"gene_symbol": "FIRRM",
"hgvs_c": "c.2249G>A",
"hgvs_p": "p.Gly750Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579990.1",
"strand": true,
"transcript": "ENST00000909931.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 853,
"aa_ref": "G",
"aa_start": 750,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2902,
"cdna_start": 2491,
"cds_end": null,
"cds_length": 2562,
"cds_start": 2249,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000909932.1",
"gene_hgnc_id": 25565,
"gene_symbol": "FIRRM",
"hgvs_c": "c.2249G>A",
"hgvs_p": "p.Gly750Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579991.1",
"strand": true,
"transcript": "ENST00000909932.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 853,
"aa_ref": "G",
"aa_start": 750,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3016,
"cdna_start": 2605,
"cds_end": null,
"cds_length": 2562,
"cds_start": 2249,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000909933.1",
"gene_hgnc_id": 25565,
"gene_symbol": "FIRRM",
"hgvs_c": "c.2249G>A",
"hgvs_p": "p.Gly750Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579992.1",
"strand": true,
"transcript": "ENST00000909933.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 853,
"aa_ref": "G",
"aa_start": 750,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2975,
"cdna_start": 2565,
"cds_end": null,
"cds_length": 2562,
"cds_start": 2249,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000909934.1",
"gene_hgnc_id": 25565,
"gene_symbol": "FIRRM",
"hgvs_c": "c.2249G>A",
"hgvs_p": "p.Gly750Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579993.1",
"strand": true,
"transcript": "ENST00000909934.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 853,
"aa_ref": "G",
"aa_start": 750,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5258,
"cdna_start": 2476,
"cds_end": null,
"cds_length": 2562,
"cds_start": 2249,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000937558.1",
"gene_hgnc_id": 25565,
"gene_symbol": "FIRRM",
"hgvs_c": "c.2249G>A",
"hgvs_p": "p.Gly750Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607617.1",
"strand": true,
"transcript": "ENST00000937558.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 853,
"aa_ref": "G",
"aa_start": 750,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4223,
"cdna_start": 2817,
"cds_end": null,
"cds_length": 2562,
"cds_start": 2249,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000937559.1",
"gene_hgnc_id": 25565,
"gene_symbol": "FIRRM",
"hgvs_c": "c.2249G>A",
"hgvs_p": "p.Gly750Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607618.1",
"strand": true,
"transcript": "ENST00000937559.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 853,
"aa_ref": "G",
"aa_start": 750,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3258,
"cdna_start": 2668,
"cds_end": null,
"cds_length": 2562,
"cds_start": 2249,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000937560.1",
"gene_hgnc_id": 25565,
"gene_symbol": "FIRRM",
"hgvs_c": "c.2249G>A",
"hgvs_p": "p.Gly750Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607619.1",
"strand": true,
"transcript": "ENST00000937560.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 853,
"aa_ref": "G",
"aa_start": 750,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3130,
"cdna_start": 2716,
"cds_end": null,
"cds_length": 2562,
"cds_start": 2249,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000937562.1",
"gene_hgnc_id": 25565,
"gene_symbol": "FIRRM",
"hgvs_c": "c.2249G>A",
"hgvs_p": "p.Gly750Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607621.1",
"strand": true,
"transcript": "ENST00000937562.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 853,
"aa_ref": "G",
"aa_start": 750,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3043,
"cdna_start": 2630,
"cds_end": null,
"cds_length": 2562,
"cds_start": 2249,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000937563.1",
"gene_hgnc_id": 25565,
"gene_symbol": "FIRRM",
"hgvs_c": "c.2249G>A",
"hgvs_p": "p.Gly750Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607622.1",
"strand": true,
"transcript": "ENST00000937563.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 824,
"aa_ref": "G",
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{
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{
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}
]
}