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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: 1-76412245-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=76412245&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 76412245,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001349111.2",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST6GALNAC3",
"gene_hgnc_id": 19343,
"hgvs_c": "c.451A>C",
"hgvs_p": "p.Ile151Leu",
"transcript": "NM_152996.4",
"protein_id": "NP_694541.2",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 305,
"cds_start": 451,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000328299.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152996.4"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST6GALNAC3",
"gene_hgnc_id": 19343,
"hgvs_c": "c.451A>C",
"hgvs_p": "p.Ile151Leu",
"transcript": "ENST00000328299.4",
"protein_id": "ENSP00000329214.3",
"transcript_support_level": 1,
"aa_start": 151,
"aa_end": null,
"aa_length": 305,
"cds_start": 451,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_152996.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000328299.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST6GALNAC3",
"gene_hgnc_id": 19343,
"hgvs_c": "n.325A>C",
"hgvs_p": null,
"transcript": "ENST00000464140.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000464140.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST6GALNAC3",
"gene_hgnc_id": 19343,
"hgvs_c": "c.487A>C",
"hgvs_p": "p.Ile163Leu",
"transcript": "NM_001349111.2",
"protein_id": "NP_001336040.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 317,
"cds_start": 487,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349111.2"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST6GALNAC3",
"gene_hgnc_id": 19343,
"hgvs_c": "c.451A>C",
"hgvs_p": "p.Ile151Leu",
"transcript": "NM_001349107.2",
"protein_id": "NP_001336036.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 269,
"cds_start": 451,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349107.2"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST6GALNAC3",
"gene_hgnc_id": 19343,
"hgvs_c": "c.256A>C",
"hgvs_p": "p.Ile86Leu",
"transcript": "NM_001349108.2",
"protein_id": "NP_001336037.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 240,
"cds_start": 256,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349108.2"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST6GALNAC3",
"gene_hgnc_id": 19343,
"hgvs_c": "c.451A>C",
"hgvs_p": "p.Ile151Leu",
"transcript": "NM_001349109.3",
"protein_id": "NP_001336038.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 228,
"cds_start": 451,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349109.3"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST6GALNAC3",
"gene_hgnc_id": 19343,
"hgvs_c": "c.187A>C",
"hgvs_p": "p.Ile63Leu",
"transcript": "NM_001349106.2",
"protein_id": "NP_001336035.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 217,
"cds_start": 187,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349106.2"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST6GALNAC3",
"gene_hgnc_id": 19343,
"hgvs_c": "c.451A>C",
"hgvs_p": "p.Ile151Leu",
"transcript": "NM_001349110.2",
"protein_id": "NP_001336039.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 213,
"cds_start": 451,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349110.2"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST6GALNAC3",
"gene_hgnc_id": 19343,
"hgvs_c": "c.451A>C",
"hgvs_p": "p.Ile151Leu",
"transcript": "NM_001160011.3",
"protein_id": "NP_001153483.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 210,
"cds_start": 451,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001160011.3"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST6GALNAC3",
"gene_hgnc_id": 19343,
"hgvs_c": "c.256A>C",
"hgvs_p": "p.Ile86Leu",
"transcript": "NM_001349105.2",
"protein_id": "NP_001336034.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 204,
"cds_start": 256,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349105.2"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST6GALNAC3",
"gene_hgnc_id": 19343,
"hgvs_c": "c.505A>C",
"hgvs_p": "p.Ile169Leu",
"transcript": "XM_017000937.3",
"protein_id": "XP_016856426.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 323,
"cds_start": 505,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000937.3"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST6GALNAC3",
"gene_hgnc_id": 19343,
"hgvs_c": "c.451A>C",
"hgvs_p": "p.Ile151Leu",
"transcript": "XM_047417095.1",
"protein_id": "XP_047273051.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 267,
"cds_start": 451,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417095.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST6GALNAC3",
"gene_hgnc_id": 19343,
"hgvs_c": "c.505A>C",
"hgvs_p": "p.Ile169Leu",
"transcript": "XM_017000939.2",
"protein_id": "XP_016856428.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 228,
"cds_start": 505,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000939.2"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST6GALNAC3",
"gene_hgnc_id": 19343,
"hgvs_c": "c.487A>C",
"hgvs_p": "p.Ile163Leu",
"transcript": "XM_047417099.1",
"protein_id": "XP_047273055.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 222,
"cds_start": 487,
"cds_end": null,
"cds_length": 669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417099.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST6GALNAC3",
"gene_hgnc_id": 19343,
"hgvs_c": "c.187A>C",
"hgvs_p": "p.Ile63Leu",
"transcript": "XM_017000941.3",
"protein_id": "XP_016856430.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 217,
"cds_start": 187,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000941.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST6GALNAC3",
"gene_hgnc_id": 19343,
"hgvs_c": "n.572A>C",
"hgvs_p": null,
"transcript": "NR_146056.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_146056.2"
}
],
"gene_symbol": "ST6GALNAC3",
"gene_hgnc_id": 19343,
"dbsnp": "rs1654300246",
"frequency_reference_population": 0.0000024788737,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000136837,
"gnomad_genomes_af": 0.0000131544,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.11113190650939941,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.089,
"revel_prediction": "Benign",
"alphamissense_score": 0.0887,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.58,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.1,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001349111.2",
"gene_symbol": "ST6GALNAC3",
"hgnc_id": 19343,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.487A>C",
"hgvs_p": "p.Ile163Leu"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}