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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: 17-2323751-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=2323751&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 2323751,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_021947.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRR",
"gene_hgnc_id": 14398,
"hgvs_c": "c.901G>A",
"hgvs_p": "p.Val301Ile",
"transcript": "NM_021947.3",
"protein_id": "NP_068766.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 340,
"cds_start": 901,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000344595.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021947.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRR",
"gene_hgnc_id": 14398,
"hgvs_c": "c.901G>A",
"hgvs_p": "p.Val301Ile",
"transcript": "ENST00000344595.10",
"protein_id": "ENSP00000339435.5",
"transcript_support_level": 1,
"aa_start": 301,
"aa_end": null,
"aa_length": 340,
"cds_start": 901,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_021947.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000344595.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSR1",
"gene_hgnc_id": 25542,
"hgvs_c": "c.*445C>T",
"hgvs_p": null,
"transcript": "NM_018128.5",
"protein_id": "NP_060598.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 804,
"cds_start": null,
"cds_end": null,
"cds_length": 2415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000301364.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018128.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSR1",
"gene_hgnc_id": 25542,
"hgvs_c": "c.*445C>T",
"hgvs_p": null,
"transcript": "ENST00000301364.10",
"protein_id": "ENSP00000301364.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 804,
"cds_start": null,
"cds_end": null,
"cds_length": 2415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018128.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000301364.10"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRR",
"gene_hgnc_id": 14398,
"hgvs_c": "c.901G>A",
"hgvs_p": "p.Val301Ile",
"transcript": "ENST00000909632.1",
"protein_id": "ENSP00000579691.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 340,
"cds_start": 901,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909632.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRR",
"gene_hgnc_id": 14398,
"hgvs_c": "c.901G>A",
"hgvs_p": "p.Val301Ile",
"transcript": "ENST00000909633.1",
"protein_id": "ENSP00000579692.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 340,
"cds_start": 901,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909633.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRR",
"gene_hgnc_id": 14398,
"hgvs_c": "c.901G>A",
"hgvs_p": "p.Val301Ile",
"transcript": "ENST00000909634.1",
"protein_id": "ENSP00000579693.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 340,
"cds_start": 901,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909634.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRR",
"gene_hgnc_id": 14398,
"hgvs_c": "c.901G>A",
"hgvs_p": "p.Val301Ile",
"transcript": "ENST00000947746.1",
"protein_id": "ENSP00000617805.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 340,
"cds_start": 901,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947746.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRR",
"gene_hgnc_id": 14398,
"hgvs_c": "c.454G>A",
"hgvs_p": "p.Val152Ile",
"transcript": "NM_001304803.1",
"protein_id": "NP_001291732.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 191,
"cds_start": 454,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001304803.1"
},
{
"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": "SRR",
"gene_hgnc_id": 14398,
"hgvs_c": "c.223G>A",
"hgvs_p": "p.Val75Ile",
"transcript": "ENST00000576848.1",
"protein_id": "ENSP00000476682.1",
"transcript_support_level": 4,
"aa_start": 75,
"aa_end": null,
"aa_length": 114,
"cds_start": 223,
"cds_end": null,
"cds_length": 345,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000576848.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRR",
"gene_hgnc_id": 14398,
"hgvs_c": "c.901G>A",
"hgvs_p": "p.Val301Ile",
"transcript": "XM_006721565.4",
"protein_id": "XP_006721628.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 340,
"cds_start": 901,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006721565.4"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRR",
"gene_hgnc_id": 14398,
"hgvs_c": "c.901G>A",
"hgvs_p": "p.Val301Ile",
"transcript": "XM_006721566.4",
"protein_id": "XP_006721629.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 340,
"cds_start": 901,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006721566.4"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRR",
"gene_hgnc_id": 14398,
"hgvs_c": "c.901G>A",
"hgvs_p": "p.Val301Ile",
"transcript": "XM_011523974.4",
"protein_id": "XP_011522276.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 340,
"cds_start": 901,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011523974.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSR1",
"gene_hgnc_id": 25542,
"hgvs_c": "c.*445C>T",
"hgvs_p": null,
"transcript": "ENST00000915544.1",
"protein_id": "ENSP00000585603.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 797,
"cds_start": null,
"cds_end": null,
"cds_length": 2394,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915544.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSR1",
"gene_hgnc_id": 25542,
"hgvs_c": "c.*445C>T",
"hgvs_p": null,
"transcript": "ENST00000947905.1",
"protein_id": "ENSP00000617964.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 796,
"cds_start": null,
"cds_end": null,
"cds_length": 2391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947905.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSR1",
"gene_hgnc_id": 25542,
"hgvs_c": "c.*445C>T",
"hgvs_p": null,
"transcript": "ENST00000915545.1",
"protein_id": "ENSP00000585604.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 795,
"cds_start": null,
"cds_end": null,
"cds_length": 2388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915545.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSR1",
"gene_hgnc_id": 25542,
"hgvs_c": "c.*445C>T",
"hgvs_p": null,
"transcript": "ENST00000909712.1",
"protein_id": "ENSP00000579771.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 788,
"cds_start": null,
"cds_end": null,
"cds_length": 2367,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909712.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSR1",
"gene_hgnc_id": 25542,
"hgvs_c": "c.*445C>T",
"hgvs_p": null,
"transcript": "ENST00000915542.1",
"protein_id": "ENSP00000585601.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 759,
"cds_start": null,
"cds_end": null,
"cds_length": 2280,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915542.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSR1",
"gene_hgnc_id": 25542,
"hgvs_c": "c.*445C>T",
"hgvs_p": null,
"transcript": "ENST00000915543.1",
"protein_id": "ENSP00000585602.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 714,
"cds_start": null,
"cds_end": null,
"cds_length": 2145,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915543.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSR1",
"gene_hgnc_id": 25542,
"hgvs_c": "c.*445C>T",
"hgvs_p": null,
"transcript": "ENST00000947906.1",
"protein_id": "ENSP00000617965.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 649,
"cds_start": null,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947906.1"
}
],
"gene_symbol": "SRR",
"gene_hgnc_id": 14398,
"dbsnp": "rs377162534",
"frequency_reference_population": 0.0001369223,
"hom_count_reference_population": 0,
"allele_count_reference_population": 221,
"gnomad_exomes_af": 0.000144335,
"gnomad_genomes_af": 0.0000657142,
"gnomad_exomes_ac": 211,
"gnomad_genomes_ac": 10,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.15685606002807617,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.265,
"revel_prediction": "Benign",
"alphamissense_score": 0.0751,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.23,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.823,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_021947.3",
"gene_symbol": "SRR",
"hgnc_id": 14398,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.901G>A",
"hgvs_p": "p.Val301Ile"
},
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_018128.5",
"gene_symbol": "TSR1",
"hgnc_id": 25542,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.*445C>T",
"hgvs_p": null
}
],
"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
}