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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: 14-94116488-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=94116488&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "IFI27",
"hgnc_id": 5397,
"hgvs_c": "c.330T>G",
"hgvs_p": "p.Ile110Met",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -2,
"transcript": "NM_001130080.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_score": -2,
"allele_count_reference_population": 177,
"alphamissense_prediction": null,
"alphamissense_score": 0.0759,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.57,
"chr": "14",
"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": 0.08448439836502075,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 122,
"aa_ref": "I",
"aa_start": 110,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 652,
"cdna_start": 450,
"cds_end": null,
"cds_length": 369,
"cds_start": 330,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001130080.3",
"gene_hgnc_id": 5397,
"gene_symbol": "IFI27",
"hgvs_c": "c.330T>G",
"hgvs_p": "p.Ile110Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000621160.5",
"protein_coding": true,
"protein_id": "NP_001123552.1",
"strand": true,
"transcript": "NM_001130080.3",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 122,
"aa_ref": "I",
"aa_start": 110,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 652,
"cdna_start": 450,
"cds_end": null,
"cds_length": 369,
"cds_start": 330,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000621160.5",
"gene_hgnc_id": 5397,
"gene_symbol": "IFI27",
"hgvs_c": "c.330T>G",
"hgvs_p": "p.Ile110Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001130080.3",
"protein_coding": true,
"protein_id": "ENSP00000483498.1",
"strand": true,
"transcript": "ENST00000621160.5",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 122,
"aa_ref": "I",
"aa_start": 110,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 705,
"cdna_start": 503,
"cds_end": null,
"cds_length": 369,
"cds_start": 330,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001288952.2",
"gene_hgnc_id": 5397,
"gene_symbol": "IFI27",
"hgvs_c": "c.330T>G",
"hgvs_p": "p.Ile110Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001275881.1",
"strand": true,
"transcript": "NM_001288952.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 122,
"aa_ref": "I",
"aa_start": 110,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 618,
"cdna_start": 416,
"cds_end": null,
"cds_length": 369,
"cds_start": 330,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001288956.2",
"gene_hgnc_id": 5397,
"gene_symbol": "IFI27",
"hgvs_c": "c.330T>G",
"hgvs_p": "p.Ile110Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001275885.1",
"strand": true,
"transcript": "NM_001288956.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 122,
"aa_ref": "I",
"aa_start": 110,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 720,
"cdna_start": 518,
"cds_end": null,
"cds_length": 369,
"cds_start": 330,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001366993.1",
"gene_hgnc_id": 5397,
"gene_symbol": "IFI27",
"hgvs_c": "c.330T>G",
"hgvs_p": "p.Ile110Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001353922.1",
"strand": true,
"transcript": "NM_001366993.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 122,
"aa_ref": "I",
"aa_start": 110,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 582,
"cdna_start": 380,
"cds_end": null,
"cds_length": 369,
"cds_start": 330,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001366994.1",
"gene_hgnc_id": 5397,
"gene_symbol": "IFI27",
"hgvs_c": "c.330T>G",
"hgvs_p": "p.Ile110Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001353923.1",
"strand": true,
"transcript": "NM_001366994.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 122,
"aa_ref": "I",
"aa_start": 110,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 725,
"cdna_start": 518,
"cds_end": null,
"cds_length": 369,
"cds_start": 330,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000612813.4",
"gene_hgnc_id": 5397,
"gene_symbol": "IFI27",
"hgvs_c": "c.330T>G",
"hgvs_p": "p.Ile110Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000483430.1",
"strand": true,
"transcript": "ENST00000612813.4",
"transcript_support_level": 3
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 122,
"aa_ref": "I",
"aa_start": 110,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 714,
"cdna_start": 507,
"cds_end": null,
"cds_length": 369,
"cds_start": 330,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000616764.5",
"gene_hgnc_id": 5397,
"gene_symbol": "IFI27",
"hgvs_c": "c.330T>G",
"hgvs_p": "p.Ile110Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000477753.1",
"strand": true,
"transcript": "ENST00000616764.5",
"transcript_support_level": 2
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 122,
"aa_ref": "I",
"aa_start": 110,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 633,
"cdna_start": 421,
"cds_end": null,
"cds_length": 369,
"cds_start": 330,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000858888.1",
"gene_hgnc_id": 5397,
"gene_symbol": "IFI27",
"hgvs_c": "c.330T>G",
"hgvs_p": "p.Ile110Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528947.1",
"strand": true,
"transcript": "ENST00000858888.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 122,
"aa_ref": "I",
"aa_start": 110,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 664,
"cdna_start": 456,
"cds_end": null,
"cds_length": 369,
"cds_start": 330,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000858889.1",
"gene_hgnc_id": 5397,
"gene_symbol": "IFI27",
"hgvs_c": "c.330T>G",
"hgvs_p": "p.Ile110Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528948.1",
"strand": true,
"transcript": "ENST00000858889.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 122,
"aa_ref": "I",
"aa_start": 110,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 800,
"cdna_start": 593,
"cds_end": null,
"cds_length": 369,
"cds_start": 330,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000858890.1",
"gene_hgnc_id": 5397,
"gene_symbol": "IFI27",
"hgvs_c": "c.330T>G",
"hgvs_p": "p.Ile110Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528949.1",
"strand": true,
"transcript": "ENST00000858890.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 122,
"aa_ref": "I",
"aa_start": 110,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 606,
"cdna_start": 399,
"cds_end": null,
"cds_length": 369,
"cds_start": 330,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000858892.1",
"gene_hgnc_id": 5397,
"gene_symbol": "IFI27",
"hgvs_c": "c.330T>G",
"hgvs_p": "p.Ile110Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528951.1",
"strand": true,
"transcript": "ENST00000858892.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 122,
"aa_ref": "I",
"aa_start": 110,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1360,
"cdna_start": 1154,
"cds_end": null,
"cds_length": 369,
"cds_start": 330,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000858894.1",
"gene_hgnc_id": 5397,
"gene_symbol": "IFI27",
"hgvs_c": "c.330T>G",
"hgvs_p": "p.Ile110Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528953.1",
"strand": true,
"transcript": "ENST00000858894.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 122,
"aa_ref": "I",
"aa_start": 110,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 680,
"cdna_start": 474,
"cds_end": null,
"cds_length": 369,
"cds_start": 330,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000858896.1",
"gene_hgnc_id": 5397,
"gene_symbol": "IFI27",
"hgvs_c": "c.330T>G",
"hgvs_p": "p.Ile110Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528955.1",
"strand": true,
"transcript": "ENST00000858896.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 122,
"aa_ref": "I",
"aa_start": 110,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 672,
"cdna_start": 465,
"cds_end": null,
"cds_length": 369,
"cds_start": 330,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000858897.1",
"gene_hgnc_id": 5397,
"gene_symbol": "IFI27",
"hgvs_c": "c.330T>G",
"hgvs_p": "p.Ile110Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528956.1",
"strand": true,
"transcript": "ENST00000858897.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 122,
"aa_ref": "I",
"aa_start": 110,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 734,
"cdna_start": 532,
"cds_end": null,
"cds_length": 369,
"cds_start": 330,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000858899.1",
"gene_hgnc_id": 5397,
"gene_symbol": "IFI27",
"hgvs_c": "c.330T>G",
"hgvs_p": "p.Ile110Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528958.1",
"strand": true,
"transcript": "ENST00000858899.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 122,
"aa_ref": "I",
"aa_start": 110,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 624,
"cdna_start": 421,
"cds_end": null,
"cds_length": 369,
"cds_start": 330,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000965112.1",
"gene_hgnc_id": 5397,
"gene_symbol": "IFI27",
"hgvs_c": "c.330T>G",
"hgvs_p": "p.Ile110Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635171.1",
"strand": true,
"transcript": "ENST00000965112.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 121,
"aa_ref": "I",
"aa_start": 109,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 659,
"cdna_start": 452,
"cds_end": null,
"cds_length": 366,
"cds_start": 327,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000858891.1",
"gene_hgnc_id": 5397,
"gene_symbol": "IFI27",
"hgvs_c": "c.327T>G",
"hgvs_p": "p.Ile109Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528950.1",
"strand": true,
"transcript": "ENST00000858891.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 112,
"aa_ref": "I",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 599,
"cdna_start": 394,
"cds_end": null,
"cds_length": 339,
"cds_start": 300,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000620396.4",
"gene_hgnc_id": 5397,
"gene_symbol": "IFI27",
"hgvs_c": "c.300T>G",
"hgvs_p": "p.Ile100Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000483954.1",
"strand": true,
"transcript": "ENST00000620396.4",
"transcript_support_level": 5
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 112,
"aa_ref": "I",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 597,
"cdna_start": 391,
"cds_end": null,
"cds_length": 339,
"cds_start": 300,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000858895.1",
"gene_hgnc_id": 5397,
"gene_symbol": "IFI27",
"hgvs_c": "c.300T>G",
"hgvs_p": "p.Ile100Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528954.1",
"strand": true,
"transcript": "ENST00000858895.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 96,
"aa_ref": "I",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 549,
"cdna_start": 341,
"cds_end": null,
"cds_length": 291,
"cds_start": 252,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000858893.1",
"gene_hgnc_id": 5397,
"gene_symbol": "IFI27",
"hgvs_c": "c.252T>G",
"hgvs_p": "p.Ile84Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528952.1",
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