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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: 13-40958916-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=40958916&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 40958916,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000239882.7",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELF1",
"gene_hgnc_id": 3316,
"hgvs_c": "c.173A>T",
"hgvs_p": "p.Asn58Ile",
"transcript": "NM_172373.4",
"protein_id": "NP_758961.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 619,
"cds_start": 173,
"cds_end": null,
"cds_length": 1860,
"cdna_start": 490,
"cdna_end": null,
"cdna_length": 3678,
"mane_select": "ENST00000239882.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELF1",
"gene_hgnc_id": 3316,
"hgvs_c": "c.173A>T",
"hgvs_p": "p.Asn58Ile",
"transcript": "ENST00000239882.7",
"protein_id": "ENSP00000239882.3",
"transcript_support_level": 1,
"aa_start": 58,
"aa_end": null,
"aa_length": 619,
"cds_start": 173,
"cds_end": null,
"cds_length": 1860,
"cdna_start": 490,
"cdna_end": null,
"cdna_length": 3678,
"mane_select": "NM_172373.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELF1",
"gene_hgnc_id": 3316,
"hgvs_c": "c.-5A>T",
"hgvs_p": null,
"transcript": "NM_001370329.1",
"protein_id": "NP_001357258.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 560,
"cds_start": -4,
"cds_end": null,
"cds_length": 1683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4257,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELF1",
"gene_hgnc_id": 3316,
"hgvs_c": "c.173A>T",
"hgvs_p": "p.Asn58Ile",
"transcript": "NM_001370330.1",
"protein_id": "NP_001357259.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 619,
"cds_start": 173,
"cds_end": null,
"cds_length": 1860,
"cdna_start": 950,
"cdna_end": null,
"cdna_length": 4138,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELF1",
"gene_hgnc_id": 3316,
"hgvs_c": "c.173A>T",
"hgvs_p": "p.Asn58Ile",
"transcript": "NM_001370331.1",
"protein_id": "NP_001357260.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 619,
"cds_start": 173,
"cds_end": null,
"cds_length": 1860,
"cdna_start": 443,
"cdna_end": null,
"cdna_length": 3631,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELF1",
"gene_hgnc_id": 3316,
"hgvs_c": "c.173A>T",
"hgvs_p": "p.Asn58Ile",
"transcript": "NM_001370332.1",
"protein_id": "NP_001357261.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 619,
"cds_start": 173,
"cds_end": null,
"cds_length": 1860,
"cdna_start": 798,
"cdna_end": null,
"cdna_length": 3986,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELF1",
"gene_hgnc_id": 3316,
"hgvs_c": "c.173A>T",
"hgvs_p": "p.Asn58Ile",
"transcript": "ENST00000635415.1",
"protein_id": "ENSP00000489586.1",
"transcript_support_level": 5,
"aa_start": 58,
"aa_end": null,
"aa_length": 614,
"cds_start": 173,
"cds_end": null,
"cds_length": 1846,
"cdna_start": 443,
"cdna_end": null,
"cdna_length": 2116,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELF1",
"gene_hgnc_id": 3316,
"hgvs_c": "c.173A>T",
"hgvs_p": "p.Asn58Ile",
"transcript": "NM_001145353.1",
"protein_id": "NP_001138825.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 595,
"cds_start": 173,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 401,
"cdna_end": null,
"cdna_length": 3522,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELF1",
"gene_hgnc_id": 3316,
"hgvs_c": "c.173A>T",
"hgvs_p": "p.Asn58Ile",
"transcript": "ENST00000625359.1",
"protein_id": "ENSP00000486912.1",
"transcript_support_level": 2,
"aa_start": 58,
"aa_end": null,
"aa_length": 595,
"cds_start": 173,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 344,
"cdna_end": null,
"cdna_length": 2032,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELF1",
"gene_hgnc_id": 3316,
"hgvs_c": "c.173A>T",
"hgvs_p": "p.Asn58Ile",
"transcript": "XM_047430118.1",
"protein_id": "XP_047286074.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 619,
"cds_start": 173,
"cds_end": null,
"cds_length": 1860,
"cdna_start": 1155,
"cdna_end": null,
"cdna_length": 4343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELF1",
"gene_hgnc_id": 3316,
"hgvs_c": "c.173A>T",
"hgvs_p": "p.Asn58Ile",
"transcript": "XM_047430119.1",
"protein_id": "XP_047286075.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 619,
"cds_start": 173,
"cds_end": null,
"cds_length": 1860,
"cdna_start": 670,
"cdna_end": null,
"cdna_length": 3858,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELF1",
"gene_hgnc_id": 3316,
"hgvs_c": "c.173A>T",
"hgvs_p": "p.Asn58Ile",
"transcript": "XM_047430120.1",
"protein_id": "XP_047286076.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 619,
"cds_start": 173,
"cds_end": null,
"cds_length": 1860,
"cdna_start": 553,
"cdna_end": null,
"cdna_length": 3741,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELF1",
"gene_hgnc_id": 3316,
"hgvs_c": "c.173A>T",
"hgvs_p": "p.Asn58Ile",
"transcript": "XM_047430121.1",
"protein_id": "XP_047286077.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 619,
"cds_start": 173,
"cds_end": null,
"cds_length": 1860,
"cdna_start": 607,
"cdna_end": null,
"cdna_length": 3795,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELF1",
"gene_hgnc_id": 3316,
"hgvs_c": "c.173A>T",
"hgvs_p": "p.Asn58Ile",
"transcript": "XM_047430122.1",
"protein_id": "XP_047286078.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 619,
"cds_start": 173,
"cds_end": null,
"cds_length": 1860,
"cdna_start": 746,
"cdna_end": null,
"cdna_length": 3934,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELF1",
"gene_hgnc_id": 3316,
"hgvs_c": "c.173A>T",
"hgvs_p": "p.Asn58Ile",
"transcript": "XM_047430123.1",
"protein_id": "XP_047286079.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 619,
"cds_start": 173,
"cds_end": null,
"cds_length": 1860,
"cdna_start": 681,
"cdna_end": null,
"cdna_length": 3869,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELF1",
"gene_hgnc_id": 3316,
"hgvs_c": "c.173A>T",
"hgvs_p": "p.Asn58Ile",
"transcript": "XM_047430124.1",
"protein_id": "XP_047286080.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 619,
"cds_start": 173,
"cds_end": null,
"cds_length": 1860,
"cdna_start": 629,
"cdna_end": null,
"cdna_length": 3817,
"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": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELF1",
"gene_hgnc_id": 3316,
"hgvs_c": "n.173A>T",
"hgvs_p": null,
"transcript": "ENST00000498824.5",
"protein_id": "ENSP00000487240.1",
"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": 3672,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELF1",
"gene_hgnc_id": 3316,
"hgvs_c": "c.-5A>T",
"hgvs_p": null,
"transcript": "NM_001370329.1",
"protein_id": "NP_001357258.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 560,
"cds_start": -4,
"cds_end": null,
"cds_length": 1683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4257,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ELF1",
"gene_hgnc_id": 3316,
"dbsnp": "rs7799",
"frequency_reference_population": 6.841209e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84121e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4605276584625244,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.138,
"revel_prediction": "Benign",
"alphamissense_score": 0.2074,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.35,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.045,
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000239882.7",
"gene_symbol": "ELF1",
"hgnc_id": 3316,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.173A>T",
"hgvs_p": "p.Asn58Ile"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}