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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: 3-98788387-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=98788387&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "ST3GAL6",
"hgnc_id": 18080,
"hgvs_c": "c.839G>A",
"hgvs_p": "p.Arg280Gln",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001271145.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 83,
"alphamissense_prediction": null,
"alphamissense_score": 0.4744,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.16,
"chr": "3",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.4449046552181244,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 331,
"aa_ref": "R",
"aa_start": 227,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3198,
"cdna_start": 791,
"cds_end": null,
"cds_length": 996,
"cds_start": 680,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001323368.2",
"gene_hgnc_id": 18080,
"gene_symbol": "ST3GAL6",
"hgvs_c": "c.680G>A",
"hgvs_p": "p.Arg227Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000483910.6",
"protein_coding": true,
"protein_id": "NP_001310297.1",
"strand": true,
"transcript": "NM_001323368.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 331,
"aa_ref": "R",
"aa_start": 227,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3198,
"cdna_start": 791,
"cds_end": null,
"cds_length": 996,
"cds_start": 680,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000483910.6",
"gene_hgnc_id": 18080,
"gene_symbol": "ST3GAL6",
"hgvs_c": "c.680G>A",
"hgvs_p": "p.Arg227Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001323368.2",
"protein_coding": true,
"protein_id": "ENSP00000417376.1",
"strand": true,
"transcript": "ENST00000483910.6",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 331,
"aa_ref": "R",
"aa_start": 227,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3571,
"cdna_start": 1171,
"cds_end": null,
"cds_length": 996,
"cds_start": 680,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000394162.5",
"gene_hgnc_id": 18080,
"gene_symbol": "ST3GAL6",
"hgvs_c": "c.680G>A",
"hgvs_p": "p.Arg227Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000377717.1",
"strand": true,
"transcript": "ENST00000394162.5",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 331,
"aa_ref": "R",
"aa_start": 227,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3399,
"cdna_start": 999,
"cds_end": null,
"cds_length": 996,
"cds_start": 680,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000613264.5",
"gene_hgnc_id": 18080,
"gene_symbol": "ST3GAL6",
"hgvs_c": "c.680G>A",
"hgvs_p": "p.Arg227Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000480884.2",
"strand": true,
"transcript": "ENST00000613264.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2837,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000469105.5",
"gene_hgnc_id": 18080,
"gene_symbol": "ST3GAL6",
"hgvs_c": "n.*477G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000419690.1",
"strand": true,
"transcript": "ENST00000469105.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2837,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000469105.5",
"gene_hgnc_id": 18080,
"gene_symbol": "ST3GAL6",
"hgvs_c": "n.*477G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000419690.1",
"strand": true,
"transcript": "ENST00000469105.5",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 384,
"aa_ref": "R",
"aa_start": 280,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3409,
"cdna_start": 1002,
"cds_end": null,
"cds_length": 1155,
"cds_start": 839,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001271145.2",
"gene_hgnc_id": 18080,
"gene_symbol": "ST3GAL6",
"hgvs_c": "c.839G>A",
"hgvs_p": "p.Arg280Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001258074.1",
"strand": true,
"transcript": "NM_001271145.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 331,
"aa_ref": "R",
"aa_start": 227,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3369,
"cdna_start": 962,
"cds_end": null,
"cds_length": 996,
"cds_start": 680,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001271146.2",
"gene_hgnc_id": 18080,
"gene_symbol": "ST3GAL6",
"hgvs_c": "c.680G>A",
"hgvs_p": "p.Arg227Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001258075.1",
"strand": true,
"transcript": "NM_001271146.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 331,
"aa_ref": "R",
"aa_start": 227,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3541,
"cdna_start": 1134,
"cds_end": null,
"cds_length": 996,
"cds_start": 680,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001323352.2",
"gene_hgnc_id": 18080,
"gene_symbol": "ST3GAL6",
"hgvs_c": "c.680G>A",
"hgvs_p": "p.Arg227Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310281.1",
"strand": true,
"transcript": "NM_001323352.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 331,
"aa_ref": "R",
"aa_start": 227,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3406,
"cdna_start": 999,
"cds_end": null,
"cds_length": 996,
"cds_start": 680,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001323365.2",
"gene_hgnc_id": 18080,
"gene_symbol": "ST3GAL6",
"hgvs_c": "c.680G>A",
"hgvs_p": "p.Arg227Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310294.1",
"strand": true,
"transcript": "NM_001323365.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 331,
"aa_ref": "R",
"aa_start": 227,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3190,
"cdna_start": 783,
"cds_end": null,
"cds_length": 996,
"cds_start": 680,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001323367.4",
"gene_hgnc_id": 18080,
"gene_symbol": "ST3GAL6",
"hgvs_c": "c.680G>A",
"hgvs_p": "p.Arg227Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310296.2",
"strand": true,
"transcript": "NM_001323367.4",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 331,
"aa_ref": "R",
"aa_start": 227,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3581,
"cdna_start": 1174,
"cds_end": null,
"cds_length": 996,
"cds_start": 680,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_006100.4",
"gene_hgnc_id": 18080,
"gene_symbol": "ST3GAL6",
"hgvs_c": "c.680G>A",
"hgvs_p": "p.Arg227Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_006091.1",
"strand": true,
"transcript": "NM_006100.4",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 331,
"aa_ref": "R",
"aa_start": 227,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3385,
"cdna_start": 969,
"cds_end": null,
"cds_length": 996,
"cds_start": 680,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000265261.11",
"gene_hgnc_id": 18080,
"gene_symbol": "ST3GAL6",
"hgvs_c": "c.680G>A",
"hgvs_p": "p.Arg227Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000265261.7",
"strand": true,
"transcript": "ENST00000265261.11",
"transcript_support_level": 2
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 331,
"aa_ref": "R",
"aa_start": 227,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2463,
"cdna_start": 959,
"cds_end": null,
"cds_length": 996,
"cds_start": 680,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000881500.1",
"gene_hgnc_id": 18080,
"gene_symbol": "ST3GAL6",
"hgvs_c": "c.680G>A",
"hgvs_p": "p.Arg227Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551559.1",
"strand": true,
"transcript": "ENST00000881500.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 331,
"aa_ref": "R",
"aa_start": 227,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4669,
"cdna_start": 1221,
"cds_end": null,
"cds_length": 996,
"cds_start": 680,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000881501.1",
"gene_hgnc_id": 18080,
"gene_symbol": "ST3GAL6",
"hgvs_c": "c.680G>A",
"hgvs_p": "p.Arg227Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551560.1",
"strand": true,
"transcript": "ENST00000881501.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 331,
"aa_ref": "R",
"aa_start": 227,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3966,
"cdna_start": 1559,
"cds_end": null,
"cds_length": 996,
"cds_start": 680,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000881502.1",
"gene_hgnc_id": 18080,
"gene_symbol": "ST3GAL6",
"hgvs_c": "c.680G>A",
"hgvs_p": "p.Arg227Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551561.1",
"strand": true,
"transcript": "ENST00000881502.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 331,
"aa_ref": "R",
"aa_start": 227,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2901,
"cdna_start": 1121,
"cds_end": null,
"cds_length": 996,
"cds_start": 680,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000881507.1",
"gene_hgnc_id": 18080,
"gene_symbol": "ST3GAL6",
"hgvs_c": "c.680G>A",
"hgvs_p": "p.Arg227Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551566.1",
"strand": true,
"transcript": "ENST00000881507.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 331,
"aa_ref": "R",
"aa_start": 227,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3284,
"cdna_start": 1475,
"cds_end": null,
"cds_length": 996,
"cds_start": 680,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000881508.1",
"gene_hgnc_id": 18080,
"gene_symbol": "ST3GAL6",
"hgvs_c": "c.680G>A",
"hgvs_p": "p.Arg227Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551567.1",
"strand": true,
"transcript": "ENST00000881508.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 331,
"aa_ref": "R",
"aa_start": 227,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3561,
"cdna_start": 1752,
"cds_end": null,
"cds_length": 996,
"cds_start": 680,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000881509.1",
"gene_hgnc_id": 18080,
"gene_symbol": "ST3GAL6",
"hgvs_c": "c.680G>A",
"hgvs_p": "p.Arg227Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551568.1",
"strand": true,
"transcript": "ENST00000881509.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 331,
"aa_ref": "R",
"aa_start": 227,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2883,
"cdna_start": 1078,
"cds_end": null,
"cds_length": 996,
"cds_start": 680,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000881510.1",
"gene_hgnc_id": 18080,
"gene_symbol": "ST3GAL6",
"hgvs_c": "c.680G>A",
"hgvs_p": "p.Arg227Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551569.1",
"strand": true,
"transcript": "ENST00000881510.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 331,
"aa_ref": "R",
"aa_start": 227,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3417,
"cdna_start": 1612,
"cds_end": null,
"cds_length": 996,
"cds_start": 680,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000881511.1",
"gene_hgnc_id": 18080,
"gene_symbol": "ST3GAL6",
"hgvs_c": "c.680G>A",
"hgvs_p": "p.Arg227Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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}