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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: 1-169854291-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=169854291&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SCYL3",
"hgnc_id": 19285,
"hgvs_c": "c.2148T>A",
"hgvs_p": "p.Phe716Leu",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_181093.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"3_prime_UTR_variant"
],
"gene_symbol": "FIRRM",
"hgnc_id": 25565,
"hgvs_c": "c.*1304A>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "ENST00000937558.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.9648,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.1,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.7104464173316956,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 688,
"aa_ref": "F",
"aa_start": 662,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6308,
"cdna_start": 2145,
"cds_end": null,
"cds_length": 2067,
"cds_start": 1986,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_020423.7",
"gene_hgnc_id": 19285,
"gene_symbol": "SCYL3",
"hgvs_c": "c.1986T>A",
"hgvs_p": "p.Phe662Leu",
"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": "L",
"aa_end": null,
"aa_length": 688,
"aa_ref": "F",
"aa_start": 662,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6308,
"cdna_start": 2145,
"cds_end": null,
"cds_length": 2067,
"cds_start": 1986,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000367771.11",
"gene_hgnc_id": 19285,
"gene_symbol": "SCYL3",
"hgvs_c": "c.1986T>A",
"hgvs_p": "p.Phe662Leu",
"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": "L",
"aa_end": null,
"aa_length": 742,
"aa_ref": "F",
"aa_start": 716,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2916,
"cdna_start": 2196,
"cds_end": null,
"cds_length": 2229,
"cds_start": 2148,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000367770.5",
"gene_hgnc_id": 19285,
"gene_symbol": "SCYL3",
"hgvs_c": "c.2148T>A",
"hgvs_p": "p.Phe716Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000356744.1",
"strand": false,
"transcript": "ENST00000367770.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 755,
"aa_ref": "F",
"aa_start": 729,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3312,
"cdna_start": 2611,
"cds_end": null,
"cds_length": 2268,
"cds_start": 2187,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000910084.1",
"gene_hgnc_id": 19285,
"gene_symbol": "SCYL3",
"hgvs_c": "c.2187T>A",
"hgvs_p": "p.Phe729Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580143.1",
"strand": false,
"transcript": "ENST00000910084.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 755,
"aa_ref": "F",
"aa_start": 729,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3079,
"cdna_start": 2376,
"cds_end": null,
"cds_length": 2268,
"cds_start": 2187,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000966135.1",
"gene_hgnc_id": 19285,
"gene_symbol": "SCYL3",
"hgvs_c": "c.2187T>A",
"hgvs_p": "p.Phe729Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636194.1",
"strand": false,
"transcript": "ENST00000966135.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 742,
"aa_ref": "F",
"aa_start": 716,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6470,
"cdna_start": 2307,
"cds_end": null,
"cds_length": 2229,
"cds_start": 2148,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_181093.4",
"gene_hgnc_id": 19285,
"gene_symbol": "SCYL3",
"hgvs_c": "c.2148T>A",
"hgvs_p": "p.Phe716Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_851607.2",
"strand": false,
"transcript": "NM_181093.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 742,
"aa_ref": "F",
"aa_start": 716,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3090,
"cdna_start": 2370,
"cds_end": null,
"cds_length": 2229,
"cds_start": 2148,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000367772.8",
"gene_hgnc_id": 19285,
"gene_symbol": "SCYL3",
"hgvs_c": "c.2148T>A",
"hgvs_p": "p.Phe716Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000356746.4",
"strand": false,
"transcript": "ENST00000367772.8",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 714,
"aa_ref": "F",
"aa_start": 688,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2870,
"cdna_start": 2150,
"cds_end": null,
"cds_length": 2145,
"cds_start": 2064,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000910088.1",
"gene_hgnc_id": 19285,
"gene_symbol": "SCYL3",
"hgvs_c": "c.2064T>A",
"hgvs_p": "p.Phe688Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580147.1",
"strand": false,
"transcript": "ENST00000910088.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 688,
"aa_ref": "F",
"aa_start": 662,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2578,
"cdna_start": 2158,
"cds_end": null,
"cds_length": 2067,
"cds_start": 1986,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000910083.1",
"gene_hgnc_id": 19285,
"gene_symbol": "SCYL3",
"hgvs_c": "c.1986T>A",
"hgvs_p": "p.Phe662Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580142.1",
"strand": false,
"transcript": "ENST00000910083.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 688,
"aa_ref": "F",
"aa_start": 662,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2968,
"cdna_start": 2248,
"cds_end": null,
"cds_length": 2067,
"cds_start": 1986,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000910086.1",
"gene_hgnc_id": 19285,
"gene_symbol": "SCYL3",
"hgvs_c": "c.1986T>A",
"hgvs_p": "p.Phe662Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580145.1",
"strand": false,
"transcript": "ENST00000910086.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 688,
"aa_ref": "F",
"aa_start": 662,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2851,
"cdna_start": 2150,
"cds_end": null,
"cds_length": 2067,
"cds_start": 1986,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000910087.1",
"gene_hgnc_id": 19285,
"gene_symbol": "SCYL3",
"hgvs_c": "c.1986T>A",
"hgvs_p": "p.Phe662Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580146.1",
"strand": false,
"transcript": "ENST00000910087.1",
"transcript_support_level": null
},
{
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"aa_length": 688,
"aa_ref": "F",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2770,
"cdna_start": 2065,
"cds_end": null,
"cds_length": 2067,
"cds_start": 1986,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
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"feature": "ENST00000937694.1",
"gene_hgnc_id": 19285,
"gene_symbol": "SCYL3",
"hgvs_c": "c.1986T>A",
"hgvs_p": "p.Phe662Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607753.1",
"strand": false,
"transcript": "ENST00000937694.1",
"transcript_support_level": null
},
{
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"aa_ref": "F",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2869,
"cdna_start": 2159,
"cds_end": null,
"cds_length": 2049,
"cds_start": 1968,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000910085.1",
"gene_hgnc_id": 19285,
"gene_symbol": "SCYL3",
"hgvs_c": "c.1968T>A",
"hgvs_p": "p.Phe656Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580144.1",
"strand": false,
"transcript": "ENST00000910085.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 742,
"aa_ref": "F",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6782,
"cdna_start": 2619,
"cds_end": null,
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"cds_start": 2148,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_006711465.2",
"gene_hgnc_id": 19285,
"gene_symbol": "SCYL3",
"hgvs_c": "c.2148T>A",
"hgvs_p": "p.Phe716Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006711528.1",
"strand": false,
"transcript": "XM_006711465.2",
"transcript_support_level": null
},
{
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"aa_ref": "F",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6623,
"cdna_start": 2460,
"cds_end": null,
"cds_length": 2229,
"cds_start": 2148,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_011509801.2",
"gene_hgnc_id": 19285,
"gene_symbol": "SCYL3",
"hgvs_c": "c.2148T>A",
"hgvs_p": "p.Phe716Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011508103.1",
"strand": false,
"transcript": "XM_011509801.2",
"transcript_support_level": null
},
{
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"aa_ref": "F",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 6620,
"cdna_start": 2457,
"cds_end": null,
"cds_length": 2067,
"cds_start": 1986,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_017001862.2",
"gene_hgnc_id": 19285,
"gene_symbol": "SCYL3",
"hgvs_c": "c.1986T>A",
"hgvs_p": "p.Phe662Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016857351.1",
"strand": false,
"transcript": "XM_017001862.2",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
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"cdna_length": 6461,
"cdna_start": 2298,
"cds_end": null,
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"cds_start": 1986,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_017001863.2",
"gene_hgnc_id": 19285,
"gene_symbol": "SCYL3",
"hgvs_c": "c.1986T>A",
"hgvs_p": "p.Phe662Leu",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_016857352.1",
"strand": false,
"transcript": "XM_017001863.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_ref": "F",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6225,
"cdna_start": 2062,
"cds_end": null,
"cds_length": 1803,
"cds_start": 1722,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_011509802.2",
"gene_hgnc_id": 19285,
"gene_symbol": "SCYL3",
"hgvs_c": "c.1722T>A",
"hgvs_p": "p.Phe574Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011508104.1",
"strand": false,
"transcript": "XM_011509802.2",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5258,
"cdna_start": null,
"cds_end": null,
"cds_length": 2562,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000937558.1",
"gene_hgnc_id": 25565,
"gene_symbol": "FIRRM",
"hgvs_c": "c.*1304A>T",
"hgvs_p": null,
"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": null,
"aa_end": null,
"aa_length": 853,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4011,
"cdna_start": null,
"cds_end": null,
"cds_length": 2562,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001320047.2",
"gene_hgnc_id": 25565,
"gene_symbol": "FIRRM",
"hgvs_c": "c.*1304A>T",
"hgvs_p": null,
"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": null,
"aa_end": null,
"aa_length": 853,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4011,
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"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 2.674,
"pos": 169854291,
"ref": "A",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.314,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.03999999910593033,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
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"transcript": "NM_181093.4"
}
]
}