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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: 11-126408308-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=126408308&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant",
"splice_region_variant"
],
"gene_symbol": "ST3GAL4",
"hgnc_id": 10864,
"hgvs_c": "c.502T>A",
"hgvs_p": "p.Leu168Met",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001348396.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.373,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.45,
"chr": "11",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.6916607618331909,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 333,
"aa_ref": "L",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1810,
"cdna_start": 656,
"cds_end": null,
"cds_length": 1002,
"cds_start": 439,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001254757.2",
"gene_hgnc_id": 10864,
"gene_symbol": "ST3GAL4",
"hgvs_c": "c.439T>A",
"hgvs_p": "p.Leu147Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000444328.7",
"protein_coding": true,
"protein_id": "NP_001241686.1",
"strand": true,
"transcript": "NM_001254757.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 333,
"aa_ref": "L",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1810,
"cdna_start": 656,
"cds_end": null,
"cds_length": 1002,
"cds_start": 439,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000444328.7",
"gene_hgnc_id": 10864,
"gene_symbol": "ST3GAL4",
"hgvs_c": "c.439T>A",
"hgvs_p": "p.Leu147Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001254757.2",
"protein_coding": true,
"protein_id": "ENSP00000394354.2",
"strand": true,
"transcript": "ENST00000444328.7",
"transcript_support_level": 5
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 333,
"aa_ref": "L",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1724,
"cdna_start": 570,
"cds_end": null,
"cds_length": 1002,
"cds_start": 439,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000392669.6",
"gene_hgnc_id": 10864,
"gene_symbol": "ST3GAL4",
"hgvs_c": "c.439T>A",
"hgvs_p": "p.Leu147Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000376437.2",
"strand": true,
"transcript": "ENST00000392669.6",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 333,
"aa_ref": "L",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1967,
"cdna_start": 813,
"cds_end": null,
"cds_length": 1002,
"cds_start": 439,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000526727.5",
"gene_hgnc_id": 10864,
"gene_symbol": "ST3GAL4",
"hgvs_c": "c.439T>A",
"hgvs_p": "p.Leu147Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000436047.1",
"strand": true,
"transcript": "ENST00000526727.5",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 332,
"aa_ref": "L",
"aa_start": 146,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1825,
"cdna_start": 701,
"cds_end": null,
"cds_length": 999,
"cds_start": 436,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000532243.5",
"gene_hgnc_id": 10864,
"gene_symbol": "ST3GAL4",
"hgvs_c": "c.436T>A",
"hgvs_p": "p.Leu146Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000434349.1",
"strand": true,
"transcript": "ENST00000532243.5",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 329,
"aa_ref": "L",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1459,
"cdna_start": 896,
"cds_end": null,
"cds_length": 990,
"cds_start": 427,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000530591.5",
"gene_hgnc_id": 10864,
"gene_symbol": "ST3GAL4",
"hgvs_c": "c.427T>A",
"hgvs_p": "p.Leu143Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000433989.1",
"strand": true,
"transcript": "ENST00000530591.5",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 328,
"aa_ref": "L",
"aa_start": 142,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 987,
"cdna_start": 424,
"cds_end": null,
"cds_length": 987,
"cds_start": 424,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000534457.5",
"gene_hgnc_id": 10864,
"gene_symbol": "ST3GAL4",
"hgvs_c": "c.424T>A",
"hgvs_p": "p.Leu142Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000434668.1",
"strand": true,
"transcript": "ENST00000534457.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 152,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1012,
"cdna_start": null,
"cds_end": null,
"cds_length": 460,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000524860.1",
"gene_hgnc_id": 10864,
"gene_symbol": "ST3GAL4",
"hgvs_c": "c.-54T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000431170.1",
"strand": true,
"transcript": "ENST00000524860.1",
"transcript_support_level": 3
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 354,
"aa_ref": "L",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1961,
"cdna_start": 807,
"cds_end": null,
"cds_length": 1065,
"cds_start": 502,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001348396.2",
"gene_hgnc_id": 10864,
"gene_symbol": "ST3GAL4",
"hgvs_c": "c.502T>A",
"hgvs_p": "p.Leu168Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001335325.1",
"strand": true,
"transcript": "NM_001348396.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 354,
"aa_ref": "L",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2095,
"cdna_start": 941,
"cds_end": null,
"cds_length": 1065,
"cds_start": 502,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001348397.2",
"gene_hgnc_id": 10864,
"gene_symbol": "ST3GAL4",
"hgvs_c": "c.502T>A",
"hgvs_p": "p.Leu168Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001335326.1",
"strand": true,
"transcript": "NM_001348397.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 354,
"aa_ref": "L",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1812,
"cdna_start": 679,
"cds_end": null,
"cds_length": 1065,
"cds_start": 502,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000356132.9",
"gene_hgnc_id": 10864,
"gene_symbol": "ST3GAL4",
"hgvs_c": "c.502T>A",
"hgvs_p": "p.Leu168Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000348451.5",
"strand": true,
"transcript": "ENST00000356132.9",
"transcript_support_level": 5
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 354,
"aa_ref": "L",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1716,
"cdna_start": 673,
"cds_end": null,
"cds_length": 1065,
"cds_start": 439,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000678865.1",
"gene_hgnc_id": 10864,
"gene_symbol": "ST3GAL4",
"hgvs_c": "c.439T>A",
"hgvs_p": "p.Leu147Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000504245.1",
"strand": true,
"transcript": "ENST00000678865.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 350,
"aa_ref": "L",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1716,
"cdna_start": 644,
"cds_end": null,
"cds_length": 1053,
"cds_start": 427,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001348398.2",
"gene_hgnc_id": 10864,
"gene_symbol": "ST3GAL4",
"hgvs_c": "c.427T>A",
"hgvs_p": "p.Leu143Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001335327.1",
"strand": true,
"transcript": "NM_001348398.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 350,
"aa_ref": "L",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1685,
"cdna_start": 642,
"cds_end": null,
"cds_length": 1053,
"cds_start": 427,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000677503.1",
"gene_hgnc_id": 10864,
"gene_symbol": "ST3GAL4",
"hgvs_c": "c.427T>A",
"hgvs_p": "p.Leu143Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000504548.1",
"strand": true,
"transcript": "ENST00000677503.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 333,
"aa_ref": "L",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1724,
"cdna_start": 570,
"cds_end": null,
"cds_length": 1002,
"cds_start": 439,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001254758.2",
"gene_hgnc_id": 10864,
"gene_symbol": "ST3GAL4",
"hgvs_c": "c.439T>A",
"hgvs_p": "p.Leu147Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001241687.1",
"strand": true,
"transcript": "NM_001254758.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 333,
"aa_ref": "L",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1944,
"cdna_start": 790,
"cds_end": null,
"cds_length": 1002,
"cds_start": 439,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001348399.2",
"gene_hgnc_id": 10864,
"gene_symbol": "ST3GAL4",
"hgvs_c": "c.439T>A",
"hgvs_p": "p.Leu147Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001335328.1",
"strand": true,
"transcript": "NM_001348399.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 333,
"aa_ref": "L",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1919,
"cdna_start": 828,
"cds_end": null,
"cds_length": 1002,
"cds_start": 439,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000534083.5",
"gene_hgnc_id": 10864,
"gene_symbol": "ST3GAL4",
"hgvs_c": "c.439T>A",
"hgvs_p": "p.Leu147Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000433318.1",
"strand": true,
"transcript": "ENST00000534083.5",
"transcript_support_level": 5
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 333,
"aa_ref": "L",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1937,
"cdna_start": 781,
"cds_end": null,
"cds_length": 1002,
"cds_start": 439,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000860623.1",
"gene_hgnc_id": 10864,
"gene_symbol": "ST3GAL4",
"hgvs_c": "c.439T>A",
"hgvs_p": "p.Leu147Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530682.1",
"strand": true,
"transcript": "ENST00000860623.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 333,
"aa_ref": "L",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1924,
"cdna_start": 770,
"cds_end": null,
"cds_length": 1002,
"cds_start": 439,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000860629.1",
"gene_hgnc_id": 10864,
"gene_symbol": "ST3GAL4",
"hgvs_c": "c.439T>A",
"hgvs_p": "p.Leu147Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530688.1",
"strand": true,
"transcript": "ENST00000860629.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 333,
"aa_ref": "L",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1907,
"cdna_start": 753,
"cds_end": null,
"cds_length": 1002,
"cds_start": 439,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000860631.1",
"gene_hgnc_id": 10864,
"gene_symbol": "ST3GAL4",
"hgvs_c": "c.439T>A",
"hgvs_p": "p.Leu147Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530690.1",
"strand": true,
"transcript": "ENST00000860631.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 333,
"aa_ref": "L",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2012,
"cdna_start": 860,
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