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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: 2-106849384-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=106849384&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 106849384,
"ref": "C",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000409382.8",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ST6GAL2",
"gene_hgnc_id": 10861,
"hgvs_c": "c.-57-5350G>T",
"hgvs_p": null,
"transcript": "NM_001142351.2",
"protein_id": "NP_001135823.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 529,
"cds_start": -4,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6800,
"mane_select": "ENST00000409382.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ST6GAL2",
"gene_hgnc_id": 10861,
"hgvs_c": "c.-57-5350G>T",
"hgvs_p": null,
"transcript": "ENST00000409382.8",
"protein_id": "ENSP00000386942.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 529,
"cds_start": -4,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6800,
"mane_select": "NM_001142351.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ST6GAL2",
"gene_hgnc_id": 10861,
"hgvs_c": "c.-57-5350G>T",
"hgvs_p": null,
"transcript": "ENST00000361686.8",
"protein_id": "ENSP00000355273.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 529,
"cds_start": -4,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ST6GAL2",
"gene_hgnc_id": 10861,
"hgvs_c": "c.-57-5350G>T",
"hgvs_p": null,
"transcript": "ENST00000409087.3",
"protein_id": "ENSP00000387332.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 466,
"cds_start": -4,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1657,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST6GAL2",
"gene_hgnc_id": 10861,
"hgvs_c": "c.-5184G>T",
"hgvs_p": null,
"transcript": "XM_047446026.1",
"protein_id": "XP_047301982.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 529,
"cds_start": -4,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13477,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ST6GAL2",
"gene_hgnc_id": 10861,
"hgvs_c": "c.-57-5350G>T",
"hgvs_p": null,
"transcript": "NM_001322362.2",
"protein_id": "NP_001309291.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 529,
"cds_start": -4,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6864,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ST6GAL2",
"gene_hgnc_id": 10861,
"hgvs_c": "c.-57-5350G>T",
"hgvs_p": null,
"transcript": "NM_032528.3",
"protein_id": "NP_115917.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 529,
"cds_start": -4,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6859,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ST6GAL2",
"gene_hgnc_id": 10861,
"hgvs_c": "c.-57-5350G>T",
"hgvs_p": null,
"transcript": "NM_001142352.2",
"protein_id": "NP_001135824.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 466,
"cds_start": -4,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1658,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ST6GAL2",
"gene_hgnc_id": 10861,
"hgvs_c": "c.-57-5350G>T",
"hgvs_p": null,
"transcript": "ENST00000419159.2",
"protein_id": "ENSP00000395581.2",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 33,
"cds_start": -4,
"cds_end": null,
"cds_length": 104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 308,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ST6GAL2",
"gene_hgnc_id": 10861,
"hgvs_c": "n.163-15238G>T",
"hgvs_p": null,
"transcript": "NR_136313.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 5887,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ST6GAL2",
"gene_hgnc_id": 10861,
"hgvs_c": "c.-57-5350G>T",
"hgvs_p": null,
"transcript": "XM_006712802.2",
"protein_id": "XP_006712865.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 529,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 7026,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
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"gene_symbol": "ST6GAL2",
"gene_hgnc_id": 10861,
"hgvs_c": "c.-57-5350G>T",
"hgvs_p": null,
"transcript": "XM_011511999.3",
"protein_id": "XP_011510301.1",
"transcript_support_level": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ST6GAL2",
"gene_hgnc_id": 10861,
"hgvs_c": "c.-57-5350G>T",
"hgvs_p": null,
"transcript": "XM_047446027.1",
"protein_id": "XP_047301983.1",
"transcript_support_level": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ST6GAL2",
"gene_hgnc_id": 10861,
"hgvs_c": "c.-57-5350G>T",
"hgvs_p": null,
"transcript": "XM_017005110.2",
"protein_id": "XP_016860599.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ST6GAL2",
"gene_hgnc_id": 10861,
"hgvs_c": "c.-57-5350G>T",
"hgvs_p": null,
"transcript": "XM_047446028.1",
"protein_id": "XP_047301984.1",
"transcript_support_level": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ST6GAL2",
"gene_hgnc_id": 10861,
"hgvs_c": "c.-57-5350G>T",
"hgvs_p": null,
"transcript": "XM_011512000.3",
"protein_id": "XP_011510302.1",
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},
{
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"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ST6GAL2",
"gene_hgnc_id": 10861,
"hgvs_c": "c.-57-5350G>T",
"hgvs_p": null,
"transcript": "XM_047446029.1",
"protein_id": "XP_047301985.1",
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ST6GAL2",
"gene_hgnc_id": 10861,
"hgvs_c": "c.-57-5350G>T",
"hgvs_p": null,
"transcript": "XM_047446031.1",
"protein_id": "XP_047301987.1",
"transcript_support_level": null,
"aa_start": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ST6GAL2",
"gene_hgnc_id": 10861,
"hgvs_c": "c.-57-5350G>T",
"hgvs_p": null,
"transcript": "XM_047446033.1",
"protein_id": "XP_047301989.1",
"transcript_support_level": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ST6GAL2",
"gene_hgnc_id": 10861,
"hgvs_c": "c.-57-5350G>T",
"hgvs_p": null,
"transcript": "XM_011512001.3",
"protein_id": "XP_011510303.1",
"transcript_support_level": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
}
],
"gene_symbol": "ST6GAL2",
"gene_hgnc_id": 10861,
"dbsnp": "rs2377689",
"frequency_reference_population": 0.86769795,
"hom_count_reference_population": 57362,
"allele_count_reference_population": 131930,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.867698,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 131930,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 57362,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -1,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -1,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.546,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000409382.8",
"gene_symbol": "ST6GAL2",
"hgnc_id": 10861,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-57-5350G>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}