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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: 1-226064454-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=226064454&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PM2",
"PP2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "H3-3A",
"hgnc_id": 4764,
"hgvs_c": "c.103G>T",
"hgvs_p": "p.Gly35Trp",
"inheritance_mode": "AD",
"pathogenic_score": 6,
"score": 6,
"transcript": "NM_002107.7",
"verdict": "Likely_pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"upstream_gene_variant"
],
"gene_symbol": "ENSG00000299101",
"hgnc_id": null,
"hgvs_c": "n.-37C>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 3,
"score": 3,
"transcript": "ENST00000760479.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PP2,PP3",
"acmg_score": 6,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.9752,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.06,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.7652701139450073,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 136,
"aa_ref": "G",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1070,
"cdna_start": 222,
"cds_end": null,
"cds_length": 411,
"cds_start": 103,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_002107.7",
"gene_hgnc_id": 4764,
"gene_symbol": "H3-3A",
"hgvs_c": "c.103G>T",
"hgvs_p": "p.Gly35Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000366815.10",
"protein_coding": true,
"protein_id": "NP_002098.1",
"strand": true,
"transcript": "NM_002107.7",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 136,
"aa_ref": "G",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1070,
"cdna_start": 222,
"cds_end": null,
"cds_length": 411,
"cds_start": 103,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000366815.10",
"gene_hgnc_id": 4764,
"gene_symbol": "H3-3A",
"hgvs_c": "c.103G>T",
"hgvs_p": "p.Gly35Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002107.7",
"protein_coding": true,
"protein_id": "ENSP00000355780.3",
"strand": true,
"transcript": "ENST00000366815.10",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 136,
"aa_ref": "G",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1308,
"cdna_start": 478,
"cds_end": null,
"cds_length": 411,
"cds_start": 103,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000366813.1",
"gene_hgnc_id": 4764,
"gene_symbol": "H3-3A",
"hgvs_c": "c.103G>T",
"hgvs_p": "p.Gly35Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000355778.1",
"strand": true,
"transcript": "ENST00000366813.1",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 140,
"aa_ref": "G",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1091,
"cdna_start": 231,
"cds_end": null,
"cds_length": 423,
"cds_start": 103,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000921925.1",
"gene_hgnc_id": 4764,
"gene_symbol": "H3-3A",
"hgvs_c": "c.103G>T",
"hgvs_p": "p.Gly35Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591984.1",
"strand": true,
"transcript": "ENST00000921925.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 136,
"aa_ref": "G",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1310,
"cdna_start": 462,
"cds_end": null,
"cds_length": 411,
"cds_start": 103,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001379043.1",
"gene_hgnc_id": 4764,
"gene_symbol": "H3-3A",
"hgvs_c": "c.103G>T",
"hgvs_p": "p.Gly35Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365972.1",
"strand": true,
"transcript": "NM_001379043.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 136,
"aa_ref": "G",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1161,
"cdna_start": 313,
"cds_end": null,
"cds_length": 411,
"cds_start": 103,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001379045.1",
"gene_hgnc_id": 4764,
"gene_symbol": "H3-3A",
"hgvs_c": "c.103G>T",
"hgvs_p": "p.Gly35Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365974.1",
"strand": true,
"transcript": "NM_001379045.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 136,
"aa_ref": "G",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1166,
"cdna_start": 318,
"cds_end": null,
"cds_length": 411,
"cds_start": 103,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001379046.1",
"gene_hgnc_id": 4764,
"gene_symbol": "H3-3A",
"hgvs_c": "c.103G>T",
"hgvs_p": "p.Gly35Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365975.1",
"strand": true,
"transcript": "NM_001379046.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 136,
"aa_ref": "G",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1094,
"cdna_start": 246,
"cds_end": null,
"cds_length": 411,
"cds_start": 103,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001379047.1",
"gene_hgnc_id": 4764,
"gene_symbol": "H3-3A",
"hgvs_c": "c.103G>T",
"hgvs_p": "p.Gly35Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365976.1",
"strand": true,
"transcript": "NM_001379047.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 136,
"aa_ref": "G",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 799,
"cdna_start": 447,
"cds_end": null,
"cds_length": 411,
"cds_start": 103,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000366816.5",
"gene_hgnc_id": 4764,
"gene_symbol": "H3-3A",
"hgvs_c": "c.103G>T",
"hgvs_p": "p.Gly35Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000355781.1",
"strand": true,
"transcript": "ENST00000366816.5",
"transcript_support_level": 3
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 136,
"aa_ref": "G",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1151,
"cdna_start": 325,
"cds_end": null,
"cds_length": 411,
"cds_start": 103,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000655399.1",
"gene_hgnc_id": 4764,
"gene_symbol": "H3-3A",
"hgvs_c": "c.103G>T",
"hgvs_p": "p.Gly35Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499800.1",
"strand": true,
"transcript": "ENST00000655399.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 136,
"aa_ref": "G",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 895,
"cdna_start": 314,
"cds_end": null,
"cds_length": 411,
"cds_start": 103,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000661429.1",
"gene_hgnc_id": 4764,
"gene_symbol": "H3-3A",
"hgvs_c": "c.103G>T",
"hgvs_p": "p.Gly35Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499385.1",
"strand": true,
"transcript": "ENST00000661429.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 136,
"aa_ref": "G",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 607,
"cdna_start": 257,
"cds_end": null,
"cds_length": 411,
"cds_start": 103,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000666609.1",
"gene_hgnc_id": 4764,
"gene_symbol": "H3-3A",
"hgvs_c": "c.103G>T",
"hgvs_p": "p.Gly35Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499275.1",
"strand": true,
"transcript": "ENST00000666609.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
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"aa_length": 136,
"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 998,
"cdna_start": 322,
"cds_end": null,
"cds_length": 411,
"cds_start": 103,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000904835.1",
"gene_hgnc_id": 4764,
"gene_symbol": "H3-3A",
"hgvs_c": "c.103G>T",
"hgvs_p": "p.Gly35Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574894.1",
"strand": true,
"transcript": "ENST00000904835.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 136,
"aa_ref": "G",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1046,
"cdna_start": 215,
"cds_end": null,
"cds_length": 411,
"cds_start": 103,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000904836.1",
"gene_hgnc_id": 4764,
"gene_symbol": "H3-3A",
"hgvs_c": "c.103G>T",
"hgvs_p": "p.Gly35Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574895.1",
"strand": true,
"transcript": "ENST00000904836.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 136,
"aa_ref": "G",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1019,
"cdna_start": 198,
"cds_end": null,
"cds_length": 411,
"cds_start": 103,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000904838.1",
"gene_hgnc_id": 4764,
"gene_symbol": "H3-3A",
"hgvs_c": "c.103G>T",
"hgvs_p": "p.Gly35Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574897.1",
"strand": true,
"transcript": "ENST00000904838.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 136,
"aa_ref": "G",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 763,
"cdna_start": 423,
"cds_end": null,
"cds_length": 411,
"cds_start": 103,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000904839.1",
"gene_hgnc_id": 4764,
"gene_symbol": "H3-3A",
"hgvs_c": "c.103G>T",
"hgvs_p": "p.Gly35Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574898.1",
"strand": true,
"transcript": "ENST00000904839.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 136,
"aa_ref": "G",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1110,
"cdna_start": 280,
"cds_end": null,
"cds_length": 411,
"cds_start": 103,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000904840.1",
"gene_hgnc_id": 4764,
"gene_symbol": "H3-3A",
"hgvs_c": "c.103G>T",
"hgvs_p": "p.Gly35Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574899.1",
"strand": true,
"transcript": "ENST00000904840.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 136,
"aa_ref": "G",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1202,
"cdna_start": 372,
"cds_end": null,
"cds_length": 411,
"cds_start": 103,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000904841.1",
"gene_hgnc_id": 4764,
"gene_symbol": "H3-3A",
"hgvs_c": "c.103G>T",
"hgvs_p": "p.Gly35Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574900.1",
"strand": true,
"transcript": "ENST00000904841.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
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"aa_length": 136,
"aa_ref": "G",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 855,
"cdna_start": 515,
"cds_end": null,
"cds_length": 411,
"cds_start": 103,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000904842.1",
"gene_hgnc_id": 4764,
"gene_symbol": "H3-3A",
"hgvs_c": "c.103G>T",
"hgvs_p": "p.Gly35Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574901.1",
"strand": true,
"transcript": "ENST00000904842.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 136,
"aa_ref": "G",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1094,
"cdna_start": 263,
"cds_end": null,
"cds_length": 411,
"cds_start": 103,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000921919.1",
"gene_hgnc_id": 4764,
"gene_symbol": "H3-3A",
"hgvs_c": "c.103G>T",
"hgvs_p": "p.Gly35Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591978.1",
"strand": true,
"transcript": "ENST00000921919.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 136,
"aa_ref": "G",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2359,
"cdna_start": 324,
"cds_end": null,
"cds_length": 411,
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