← Back to variant description
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: 20-3227173-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=3227173&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 3227173,
"ref": "T",
"alt": "C",
"effect": "3_prime_UTR_variant",
"transcript": "NM_001324240.2",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "c.*485T>C",
"hgvs_p": null,
"transcript": "NM_001324240.2",
"protein_id": "NP_001311169.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 138,
"cds_start": -4,
"cds_end": null,
"cds_length": 417,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.*614A>G",
"hgvs_p": null,
"transcript": "NM_001174089.2",
"protein_id": "NP_001167560.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 875,
"cds_start": -4,
"cds_end": null,
"cds_length": 2628,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3046,
"mane_select": "ENST00000642402.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.*614A>G",
"hgvs_p": null,
"transcript": "ENST00000642402.1",
"protein_id": "ENSP00000493503.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 875,
"cds_start": -4,
"cds_end": null,
"cds_length": 2628,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3046,
"mane_select": "NM_001174089.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.*614A>G",
"hgvs_p": null,
"transcript": "ENST00000380056.7",
"protein_id": "ENSP00000369396.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 891,
"cds_start": -4,
"cds_end": null,
"cds_length": 2676,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3094,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.*614A>G",
"hgvs_p": null,
"transcript": "NM_001174090.2",
"protein_id": "NP_001167561.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 918,
"cds_start": -4,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3245,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.*614A>G",
"hgvs_p": null,
"transcript": "ENST00000380059.7",
"protein_id": "ENSP00000369399.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 918,
"cds_start": -4,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3229,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.*614A>G",
"hgvs_p": null,
"transcript": "NM_032034.4",
"protein_id": "NP_114423.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 891,
"cds_start": -4,
"cds_end": null,
"cds_length": 2676,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3089,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.*614A>G",
"hgvs_p": null,
"transcript": "NM_001400280.1",
"protein_id": "NP_001387209.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 880,
"cds_start": -4,
"cds_end": null,
"cds_length": 2643,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3133,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.*614A>G",
"hgvs_p": null,
"transcript": "NM_001400277.1",
"protein_id": "NP_001387206.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 856,
"cds_start": -4,
"cds_end": null,
"cds_length": 2571,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3162,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.*614A>G",
"hgvs_p": null,
"transcript": "NM_001400278.1",
"protein_id": "NP_001387207.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 856,
"cds_start": -4,
"cds_end": null,
"cds_length": 2571,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3161,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.*614A>G",
"hgvs_p": null,
"transcript": "NM_001400279.1",
"protein_id": "NP_001387208.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 856,
"cds_start": -4,
"cds_end": null,
"cds_length": 2571,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3152,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.*614A>G",
"hgvs_p": null,
"transcript": "NM_001363745.2",
"protein_id": "NP_001350674.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 837,
"cds_start": -4,
"cds_end": null,
"cds_length": 2514,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2932,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "n.*244A>G",
"hgvs_p": null,
"transcript": "NR_135000.1",
"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,
"cdna_end": null,
"cdna_length": 3096,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "n.*249A>G",
"hgvs_p": null,
"transcript": "NR_174470.1",
"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,
"cdna_end": null,
"cdna_length": 3516,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "n.*249A>G",
"hgvs_p": null,
"transcript": "NR_174471.1",
"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,
"cdna_end": null,
"cdna_length": 3501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.*614A>G",
"hgvs_p": null,
"transcript": "XM_047440540.1",
"protein_id": "XP_047296496.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 891,
"cds_start": -4,
"cds_end": null,
"cds_length": 2676,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3506,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.*614A>G",
"hgvs_p": null,
"transcript": "XM_017028093.2",
"protein_id": "XP_016883582.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 878,
"cds_start": -4,
"cds_end": null,
"cds_length": 2637,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3132,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.*614A>G",
"hgvs_p": null,
"transcript": "XM_017028094.2",
"protein_id": "XP_016883583.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 856,
"cds_start": -4,
"cds_end": null,
"cds_length": 2571,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2974,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.*614A>G",
"hgvs_p": null,
"transcript": "XM_017028096.2",
"protein_id": "XP_016883585.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 856,
"cds_start": -4,
"cds_end": null,
"cds_length": 2571,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3202,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.*614A>G",
"hgvs_p": null,
"transcript": "XM_047440542.1",
"protein_id": "XP_047296498.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 835,
"cds_start": -4,
"cds_end": null,
"cds_length": 2508,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2931,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.*614A>G",
"hgvs_p": null,
"transcript": "XM_047440543.1",
"protein_id": "XP_047296499.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 818,
"cds_start": -4,
"cds_end": null,
"cds_length": 2457,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3053,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"dbsnp": "rs3810560",
"frequency_reference_population": 0.34741142,
"hom_count_reference_population": 10953,
"allele_count_reference_population": 52892,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.347411,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 52892,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 10953,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6600000262260437,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.66,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.226,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"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": "NM_001324240.2",
"gene_symbol": "ITPA",
"hgnc_id": 6176,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*485T>C",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000642402.1",
"gene_symbol": "SLC4A11",
"hgnc_id": 16438,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.*614A>G",
"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
}