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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: 14-47131743-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=47131743&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 47131743,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001113498.3",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDGA2",
"gene_hgnc_id": 19835,
"hgvs_c": "c.896T>G",
"hgvs_p": "p.Met299Arg",
"transcript": "NM_001113498.3",
"protein_id": "NP_001106970.4",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 1025,
"cds_start": 896,
"cds_end": null,
"cds_length": 3078,
"cdna_start": 1705,
"cdna_end": null,
"cdna_length": 5726,
"mane_select": "ENST00000399232.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDGA2",
"gene_hgnc_id": 19835,
"hgvs_c": "c.896T>G",
"hgvs_p": "p.Met299Arg",
"transcript": "ENST00000399232.8",
"protein_id": "ENSP00000382178.4",
"transcript_support_level": 1,
"aa_start": 299,
"aa_end": null,
"aa_length": 1025,
"cds_start": 896,
"cds_end": null,
"cds_length": 3078,
"cdna_start": 1705,
"cdna_end": null,
"cdna_length": 5726,
"mane_select": "NM_001113498.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"start_lost"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDGA2",
"gene_hgnc_id": 19835,
"hgvs_c": "c.2T>G",
"hgvs_p": "p.Met1?",
"transcript": "NM_182830.4",
"protein_id": "NP_878250.2",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 727,
"cds_start": 2,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 760,
"cdna_end": null,
"cdna_length": 5250,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"start_lost"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDGA2",
"gene_hgnc_id": 19835,
"hgvs_c": "c.2T>G",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000357362.7",
"protein_id": "ENSP00000349925.3",
"transcript_support_level": 5,
"aa_start": 1,
"aa_end": null,
"aa_length": 727,
"cds_start": 2,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 637,
"cdna_end": null,
"cdna_length": 2965,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"start_lost"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDGA2",
"gene_hgnc_id": 19835,
"hgvs_c": "c.2T>G",
"hgvs_p": "p.Met1?",
"transcript": "XM_047431048.1",
"protein_id": "XP_047287004.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 727,
"cds_start": 2,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 765,
"cdna_end": null,
"cdna_length": 5255,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"start_lost"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDGA2",
"gene_hgnc_id": 19835,
"hgvs_c": "c.2T>G",
"hgvs_p": "p.Met1?",
"transcript": "XM_047431049.1",
"protein_id": "XP_047287005.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 727,
"cds_start": 2,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 831,
"cdna_end": null,
"cdna_length": 5321,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"start_lost"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDGA2",
"gene_hgnc_id": 19835,
"hgvs_c": "c.2T>G",
"hgvs_p": "p.Met1?",
"transcript": "XM_047431050.1",
"protein_id": "XP_047287006.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 727,
"cds_start": 2,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 673,
"cdna_end": null,
"cdna_length": 5163,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDGA2",
"gene_hgnc_id": 19835,
"hgvs_c": "c.95T>G",
"hgvs_p": "p.Met32Arg",
"transcript": "ENST00000554762.5",
"protein_id": "ENSP00000450827.1",
"transcript_support_level": 3,
"aa_start": 32,
"aa_end": null,
"aa_length": 251,
"cds_start": 95,
"cds_end": null,
"cds_length": 756,
"cdna_start": 96,
"cdna_end": null,
"cdna_length": 757,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDGA2",
"gene_hgnc_id": 19835,
"hgvs_c": "c.761T>G",
"hgvs_p": "p.Met254Arg",
"transcript": "XM_011536519.3",
"protein_id": "XP_011534821.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 980,
"cds_start": 761,
"cds_end": null,
"cds_length": 2943,
"cdna_start": 5820,
"cdna_end": null,
"cdna_length": 10310,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDGA2",
"gene_hgnc_id": 19835,
"hgvs_c": "c.896T>G",
"hgvs_p": "p.Met299Arg",
"transcript": "XM_011536522.4",
"protein_id": "XP_011534824.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 621,
"cds_start": 896,
"cds_end": null,
"cds_length": 1866,
"cdna_start": 1705,
"cdna_end": null,
"cdna_length": 2786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDGA2",
"gene_hgnc_id": 19835,
"hgvs_c": "c.896T>G",
"hgvs_p": "p.Met299Arg",
"transcript": "XM_047431051.1",
"protein_id": "XP_047287007.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 531,
"cds_start": 896,
"cds_end": null,
"cds_length": 1596,
"cdna_start": 1705,
"cdna_end": null,
"cdna_length": 2501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDGA2",
"gene_hgnc_id": 19835,
"hgvs_c": "c.896T>G",
"hgvs_p": "p.Met299Arg",
"transcript": "XM_017021061.3",
"protein_id": "XP_016876550.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 526,
"cds_start": 896,
"cds_end": null,
"cds_length": 1581,
"cdna_start": 1705,
"cdna_end": null,
"cdna_length": 4084,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDGA2",
"gene_hgnc_id": 19835,
"hgvs_c": "n.2T>G",
"hgvs_p": null,
"transcript": "ENST00000482848.7",
"protein_id": "ENSP00000434991.2",
"transcript_support_level": 2,
"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": 1918,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDGA2",
"gene_hgnc_id": 19835,
"hgvs_c": "n.2T>G",
"hgvs_p": null,
"transcript": "ENST00000557238.5",
"protein_id": "ENSP00000452593.1",
"transcript_support_level": 5,
"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": 3635,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDGA2",
"gene_hgnc_id": 19835,
"hgvs_c": "n.760T>G",
"hgvs_p": null,
"transcript": "NR_103766.2",
"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,
"cdna_end": null,
"cdna_length": 1955,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MDGA2",
"gene_hgnc_id": 19835,
"dbsnp": "rs73248044",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.39242082834243774,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.09000000357627869,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.236,
"revel_prediction": "Benign",
"alphamissense_score": 0.0781,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.15,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.515,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.09,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001113498.3",
"gene_symbol": "MDGA2",
"hgnc_id": 19835,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.896T>G",
"hgvs_p": "p.Met299Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}