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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: 1-43936688-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=43936688&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 43936688,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_057090.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARTN",
"gene_hgnc_id": 727,
"hgvs_c": "c.586G>A",
"hgvs_p": "p.Val196Ile",
"transcript": "NM_057091.3",
"protein_id": "NP_476432.2",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 220,
"cds_start": 586,
"cds_end": null,
"cds_length": 663,
"cdna_start": 887,
"cdna_end": null,
"cdna_length": 1439,
"mane_select": "ENST00000372359.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_057091.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARTN",
"gene_hgnc_id": 727,
"hgvs_c": "c.586G>A",
"hgvs_p": "p.Val196Ile",
"transcript": "ENST00000372359.10",
"protein_id": "ENSP00000361434.5",
"transcript_support_level": 1,
"aa_start": 196,
"aa_end": null,
"aa_length": 220,
"cds_start": 586,
"cds_end": null,
"cds_length": 663,
"cdna_start": 887,
"cdna_end": null,
"cdna_length": 1439,
"mane_select": "NM_057091.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372359.10"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARTN",
"gene_hgnc_id": 727,
"hgvs_c": "c.637G>A",
"hgvs_p": "p.Val213Ile",
"transcript": "ENST00000438616.3",
"protein_id": "ENSP00000391998.3",
"transcript_support_level": 1,
"aa_start": 213,
"aa_end": null,
"aa_length": 237,
"cds_start": 637,
"cds_end": null,
"cds_length": 714,
"cdna_start": 812,
"cdna_end": null,
"cdna_length": 889,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000438616.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARTN",
"gene_hgnc_id": 727,
"hgvs_c": "c.610G>A",
"hgvs_p": "p.Val204Ile",
"transcript": "ENST00000498139.6",
"protein_id": "ENSP00000436727.1",
"transcript_support_level": 1,
"aa_start": 204,
"aa_end": null,
"aa_length": 228,
"cds_start": 610,
"cds_end": null,
"cds_length": 687,
"cdna_start": 751,
"cdna_end": null,
"cdna_length": 1303,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000498139.6"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARTN",
"gene_hgnc_id": 727,
"hgvs_c": "c.586G>A",
"hgvs_p": "p.Val196Ile",
"transcript": "ENST00000372354.3",
"protein_id": "ENSP00000361429.3",
"transcript_support_level": 1,
"aa_start": 196,
"aa_end": null,
"aa_length": 220,
"cds_start": 586,
"cds_end": null,
"cds_length": 663,
"cdna_start": 884,
"cdna_end": null,
"cdna_length": 1003,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372354.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARTN",
"gene_hgnc_id": 727,
"hgvs_c": "c.610G>A",
"hgvs_p": "p.Val204Ile",
"transcript": "NM_001136215.2",
"protein_id": "NP_001129687.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 228,
"cds_start": 610,
"cds_end": null,
"cds_length": 687,
"cdna_start": 762,
"cdna_end": null,
"cdna_length": 1314,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001136215.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARTN",
"gene_hgnc_id": 727,
"hgvs_c": "c.610G>A",
"hgvs_p": "p.Val204Ile",
"transcript": "NM_057090.3",
"protein_id": "NP_476431.2",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 228,
"cds_start": 610,
"cds_end": null,
"cds_length": 687,
"cdna_start": 911,
"cdna_end": null,
"cdna_length": 1463,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_057090.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARTN",
"gene_hgnc_id": 727,
"hgvs_c": "c.610G>A",
"hgvs_p": "p.Val204Ile",
"transcript": "ENST00000414809.7",
"protein_id": "ENSP00000387435.3",
"transcript_support_level": 3,
"aa_start": 204,
"aa_end": null,
"aa_length": 228,
"cds_start": 610,
"cds_end": null,
"cds_length": 687,
"cdna_start": 1392,
"cdna_end": null,
"cdna_length": 1943,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000414809.7"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARTN",
"gene_hgnc_id": 727,
"hgvs_c": "c.610G>A",
"hgvs_p": "p.Val204Ile",
"transcript": "ENST00000925268.1",
"protein_id": "ENSP00000595327.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 228,
"cds_start": 610,
"cds_end": null,
"cds_length": 687,
"cdna_start": 908,
"cdna_end": null,
"cdna_length": 1464,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925268.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARTN",
"gene_hgnc_id": 727,
"hgvs_c": "c.610G>A",
"hgvs_p": "p.Val204Ile",
"transcript": "ENST00000925270.1",
"protein_id": "ENSP00000595329.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 228,
"cds_start": 610,
"cds_end": null,
"cds_length": 687,
"cdna_start": 858,
"cdna_end": null,
"cdna_length": 1410,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925270.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARTN",
"gene_hgnc_id": 727,
"hgvs_c": "c.610G>A",
"hgvs_p": "p.Val204Ile",
"transcript": "ENST00000963410.1",
"protein_id": "ENSP00000633469.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 228,
"cds_start": 610,
"cds_end": null,
"cds_length": 687,
"cdna_start": 831,
"cdna_end": null,
"cdna_length": 1382,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963410.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARTN",
"gene_hgnc_id": 727,
"hgvs_c": "c.610G>A",
"hgvs_p": "p.Val204Ile",
"transcript": "ENST00000963411.1",
"protein_id": "ENSP00000633470.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 228,
"cds_start": 610,
"cds_end": null,
"cds_length": 687,
"cdna_start": 1688,
"cdna_end": null,
"cdna_length": 2240,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963411.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARTN",
"gene_hgnc_id": 727,
"hgvs_c": "c.337G>A",
"hgvs_p": "p.Val113Ile",
"transcript": "ENST00000925269.1",
"protein_id": "ENSP00000595328.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 137,
"cds_start": 337,
"cds_end": null,
"cds_length": 414,
"cdna_start": 701,
"cdna_end": null,
"cdna_length": 1250,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925269.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARTN",
"gene_hgnc_id": 727,
"hgvs_c": "c.610G>A",
"hgvs_p": "p.Val204Ile",
"transcript": "XM_047433657.1",
"protein_id": "XP_047289613.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 228,
"cds_start": 610,
"cds_end": null,
"cds_length": 687,
"cdna_start": 2466,
"cdna_end": null,
"cdna_length": 3018,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433657.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARTN",
"gene_hgnc_id": 727,
"hgvs_c": "c.586G>A",
"hgvs_p": "p.Val196Ile",
"transcript": "XM_047433665.1",
"protein_id": "XP_047289621.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 220,
"cds_start": 586,
"cds_end": null,
"cds_length": 663,
"cdna_start": 2442,
"cdna_end": null,
"cdna_length": 2994,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433665.1"
}
],
"gene_symbol": "ARTN",
"gene_hgnc_id": 727,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.26067060232162476,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.338,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1865,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.24,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.402,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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_057090.3",
"gene_symbol": "ARTN",
"hgnc_id": 727,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.610G>A",
"hgvs_p": "p.Val204Ile"
}
],
"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
}