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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: 1-197040720-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=197040720&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 197040720,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001994.3",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F13B",
"gene_hgnc_id": 3534,
"hgvs_c": "c.1754C>G",
"hgvs_p": "p.Ser585Cys",
"transcript": "NM_001994.3",
"protein_id": "NP_001985.2",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 661,
"cds_start": 1754,
"cds_end": null,
"cds_length": 1986,
"cdna_start": 1791,
"cdna_end": null,
"cdna_length": 2660,
"mane_select": "ENST00000367412.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F13B",
"gene_hgnc_id": 3534,
"hgvs_c": "c.1754C>G",
"hgvs_p": "p.Ser585Cys",
"transcript": "ENST00000367412.2",
"protein_id": "ENSP00000356382.2",
"transcript_support_level": 1,
"aa_start": 585,
"aa_end": null,
"aa_length": 661,
"cds_start": 1754,
"cds_end": null,
"cds_length": 1986,
"cdna_start": 1791,
"cdna_end": null,
"cdna_length": 2660,
"mane_select": "NM_001994.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F13B",
"gene_hgnc_id": 3534,
"hgvs_c": "c.509C>G",
"hgvs_p": "p.Ser170Cys",
"transcript": "ENST00000649282.1",
"protein_id": "ENSP00000497116.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 246,
"cds_start": 509,
"cds_end": null,
"cds_length": 741,
"cdna_start": 509,
"cdna_end": null,
"cdna_length": 1378,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F13B",
"gene_hgnc_id": 3534,
"hgvs_c": "c.1754C>G",
"hgvs_p": "p.Ser585Cys",
"transcript": "XM_011509283.3",
"protein_id": "XP_011507585.1",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 676,
"cds_start": 1754,
"cds_end": null,
"cds_length": 2031,
"cdna_start": 1791,
"cdna_end": null,
"cdna_length": 3626,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F13B",
"gene_hgnc_id": 3534,
"hgvs_c": "c.1751C>G",
"hgvs_p": "p.Ser584Cys",
"transcript": "XM_011509284.3",
"protein_id": "XP_011507586.1",
"transcript_support_level": null,
"aa_start": 584,
"aa_end": null,
"aa_length": 675,
"cds_start": 1751,
"cds_end": null,
"cds_length": 2028,
"cdna_start": 1788,
"cdna_end": null,
"cdna_length": 3623,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F13B",
"gene_hgnc_id": 3534,
"hgvs_c": "c.1751C>G",
"hgvs_p": "p.Ser584Cys",
"transcript": "XM_047449422.1",
"protein_id": "XP_047305378.1",
"transcript_support_level": null,
"aa_start": 584,
"aa_end": null,
"aa_length": 660,
"cds_start": 1751,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 1788,
"cdna_end": null,
"cdna_length": 2657,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F13B",
"gene_hgnc_id": 3534,
"hgvs_c": "c.1610C>G",
"hgvs_p": "p.Ser537Cys",
"transcript": "XM_011509286.3",
"protein_id": "XP_011507588.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 628,
"cds_start": 1610,
"cds_end": null,
"cds_length": 1887,
"cdna_start": 1812,
"cdna_end": null,
"cdna_length": 3647,
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F13B",
"gene_hgnc_id": 3534,
"hgvs_c": "n.165C>G",
"hgvs_p": null,
"transcript": "ENST00000490002.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 596,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F13B",
"gene_hgnc_id": 3534,
"hgvs_c": "c.*5413C>G",
"hgvs_p": null,
"transcript": "XM_047449423.1",
"protein_id": "XP_047305379.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 591,
"cds_start": -4,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7424,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "F13B",
"gene_hgnc_id": 3534,
"dbsnp": "rs147163101",
"frequency_reference_population": 6.8593033e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.8593e-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": 0.76004558801651,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.668,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.515,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.16,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 4.619,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001994.3",
"gene_symbol": "F13B",
"hgnc_id": 3534,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1754C>G",
"hgvs_p": "p.Ser585Cys"
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}