← 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: 10-59654074-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=59654074&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 59654074,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_194298.3",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A9",
"gene_hgnc_id": 23520,
"hgvs_c": "c.952A>G",
"hgvs_p": "p.Ile318Val",
"transcript": "NM_194298.3",
"protein_id": "NP_919274.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 509,
"cds_start": 952,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 1360,
"cdna_end": null,
"cdna_length": 3946,
"mane_select": "ENST00000395348.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A9",
"gene_hgnc_id": 23520,
"hgvs_c": "c.952A>G",
"hgvs_p": "p.Ile318Val",
"transcript": "ENST00000395348.8",
"protein_id": "ENSP00000378757.3",
"transcript_support_level": 5,
"aa_start": 318,
"aa_end": null,
"aa_length": 509,
"cds_start": 952,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 1360,
"cdna_end": null,
"cdna_length": 3946,
"mane_select": "NM_194298.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A9",
"gene_hgnc_id": 23520,
"hgvs_c": "c.952A>G",
"hgvs_p": "p.Ile318Val",
"transcript": "NM_001323981.2",
"protein_id": "NP_001310910.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 509,
"cds_start": 952,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 1443,
"cdna_end": null,
"cdna_length": 4029,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A9",
"gene_hgnc_id": 23520,
"hgvs_c": "c.952A>G",
"hgvs_p": "p.Ile318Val",
"transcript": "ENST00000395347.1",
"protein_id": "ENSP00000378756.1",
"transcript_support_level": 2,
"aa_start": 318,
"aa_end": null,
"aa_length": 509,
"cds_start": 952,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 1061,
"cdna_end": null,
"cdna_length": 3646,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A9",
"gene_hgnc_id": 23520,
"hgvs_c": "c.691A>G",
"hgvs_p": "p.Ile231Val",
"transcript": "NM_001323977.1",
"protein_id": "NP_001310906.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 422,
"cds_start": 691,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 926,
"cdna_end": null,
"cdna_length": 3512,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A9",
"gene_hgnc_id": 23520,
"hgvs_c": "c.691A>G",
"hgvs_p": "p.Ile231Val",
"transcript": "NM_001323978.2",
"protein_id": "NP_001310907.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 422,
"cds_start": 691,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 1313,
"cdna_end": null,
"cdna_length": 3899,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A9",
"gene_hgnc_id": 23520,
"hgvs_c": "c.691A>G",
"hgvs_p": "p.Ile231Val",
"transcript": "NM_001323979.2",
"protein_id": "NP_001310908.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 422,
"cds_start": 691,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 1000,
"cdna_end": null,
"cdna_length": 3586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A9",
"gene_hgnc_id": 23520,
"hgvs_c": "c.691A>G",
"hgvs_p": "p.Ile231Val",
"transcript": "NM_001323980.2",
"protein_id": "NP_001310909.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 422,
"cds_start": 691,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 1230,
"cdna_end": null,
"cdna_length": 3816,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A9",
"gene_hgnc_id": 23520,
"hgvs_c": "c.952A>G",
"hgvs_p": "p.Ile318Val",
"transcript": "XM_017015883.2",
"protein_id": "XP_016871372.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 551,
"cds_start": 952,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 1360,
"cdna_end": null,
"cdna_length": 4072,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A9",
"gene_hgnc_id": 23520,
"hgvs_c": "c.952A>G",
"hgvs_p": "p.Ile318Val",
"transcript": "XM_047424753.1",
"protein_id": "XP_047280709.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 551,
"cds_start": 952,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 1505,
"cdna_end": null,
"cdna_length": 4217,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A9",
"gene_hgnc_id": 23520,
"hgvs_c": "c.952A>G",
"hgvs_p": "p.Ile318Val",
"transcript": "XM_047424754.1",
"protein_id": "XP_047280710.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 551,
"cds_start": 952,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 1071,
"cdna_end": null,
"cdna_length": 3783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A9",
"gene_hgnc_id": 23520,
"hgvs_c": "c.952A>G",
"hgvs_p": "p.Ile318Val",
"transcript": "XM_047424755.1",
"protein_id": "XP_047280711.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 551,
"cds_start": 952,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 1012,
"cdna_end": null,
"cdna_length": 3724,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A9",
"gene_hgnc_id": 23520,
"hgvs_c": "c.952A>G",
"hgvs_p": "p.Ile318Val",
"transcript": "XM_047424756.1",
"protein_id": "XP_047280712.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 551,
"cds_start": 952,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 1117,
"cdna_end": null,
"cdna_length": 3829,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A9",
"gene_hgnc_id": 23520,
"hgvs_c": "c.952A>G",
"hgvs_p": "p.Ile318Val",
"transcript": "XM_017015884.3",
"protein_id": "XP_016871373.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 509,
"cds_start": 952,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 1505,
"cdna_end": null,
"cdna_length": 4091,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A9",
"gene_hgnc_id": 23520,
"hgvs_c": "c.952A>G",
"hgvs_p": "p.Ile318Val",
"transcript": "XM_024447878.2",
"protein_id": "XP_024303646.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 509,
"cds_start": 952,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 1482,
"cdna_end": null,
"cdna_length": 4068,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A9",
"gene_hgnc_id": 23520,
"hgvs_c": "c.952A>G",
"hgvs_p": "p.Ile318Val",
"transcript": "XM_047424757.1",
"protein_id": "XP_047280713.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 509,
"cds_start": 952,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 6782,
"cdna_end": null,
"cdna_length": 9368,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SLC16A9",
"gene_hgnc_id": 23520,
"dbsnp": "rs199889507",
"frequency_reference_population": 0.000030356872,
"hom_count_reference_population": 0,
"allele_count_reference_population": 49,
"gnomad_exomes_af": 0.0000301,
"gnomad_genomes_af": 0.0000328218,
"gnomad_exomes_ac": 44,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06667289137840271,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.045,
"revel_prediction": "Benign",
"alphamissense_score": 0.0708,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.45,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.404,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_194298.3",
"gene_symbol": "SLC16A9",
"hgnc_id": 23520,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.952A>G",
"hgvs_p": "p.Ile318Val"
}
],
"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
}