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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: 1-197050866-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=197050866&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 197050866,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001994.3",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F13B",
"gene_hgnc_id": 3534,
"hgvs_c": "c.1569G>A",
"hgvs_p": "p.Met523Ile",
"transcript": "NM_001994.3",
"protein_id": "NP_001985.2",
"transcript_support_level": null,
"aa_start": 523,
"aa_end": null,
"aa_length": 661,
"cds_start": 1569,
"cds_end": null,
"cds_length": 1986,
"cdna_start": 1606,
"cdna_end": null,
"cdna_length": 2660,
"mane_select": "ENST00000367412.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F13B",
"gene_hgnc_id": 3534,
"hgvs_c": "c.1569G>A",
"hgvs_p": "p.Met523Ile",
"transcript": "ENST00000367412.2",
"protein_id": "ENSP00000356382.2",
"transcript_support_level": 1,
"aa_start": 523,
"aa_end": null,
"aa_length": 661,
"cds_start": 1569,
"cds_end": null,
"cds_length": 1986,
"cdna_start": 1606,
"cdna_end": null,
"cdna_length": 2660,
"mane_select": "NM_001994.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F13B",
"gene_hgnc_id": 3534,
"hgvs_c": "c.324G>A",
"hgvs_p": "p.Met108Ile",
"transcript": "ENST00000649282.1",
"protein_id": "ENSP00000497116.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 246,
"cds_start": 324,
"cds_end": null,
"cds_length": 741,
"cdna_start": 324,
"cdna_end": null,
"cdna_length": 1378,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F13B",
"gene_hgnc_id": 3534,
"hgvs_c": "c.1569G>A",
"hgvs_p": "p.Met523Ile",
"transcript": "XM_011509283.3",
"protein_id": "XP_011507585.1",
"transcript_support_level": null,
"aa_start": 523,
"aa_end": null,
"aa_length": 676,
"cds_start": 1569,
"cds_end": null,
"cds_length": 2031,
"cdna_start": 1606,
"cdna_end": null,
"cdna_length": 3626,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F13B",
"gene_hgnc_id": 3534,
"hgvs_c": "c.1566G>A",
"hgvs_p": "p.Met522Ile",
"transcript": "XM_011509284.3",
"protein_id": "XP_011507586.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 675,
"cds_start": 1566,
"cds_end": null,
"cds_length": 2028,
"cdna_start": 1603,
"cdna_end": null,
"cdna_length": 3623,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F13B",
"gene_hgnc_id": 3534,
"hgvs_c": "c.1566G>A",
"hgvs_p": "p.Met522Ile",
"transcript": "XM_047449422.1",
"protein_id": "XP_047305378.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 660,
"cds_start": 1566,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 1603,
"cdna_end": null,
"cdna_length": 2657,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F13B",
"gene_hgnc_id": 3534,
"hgvs_c": "c.1425G>A",
"hgvs_p": "p.Met475Ile",
"transcript": "XM_011509286.3",
"protein_id": "XP_011507588.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 628,
"cds_start": 1425,
"cds_end": null,
"cds_length": 1887,
"cdna_start": 1627,
"cdna_end": null,
"cdna_length": 3647,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F13B",
"gene_hgnc_id": 3534,
"hgvs_c": "c.1569G>A",
"hgvs_p": "p.Met523Ile",
"transcript": "XM_047449423.1",
"protein_id": "XP_047305379.1",
"transcript_support_level": null,
"aa_start": 523,
"aa_end": null,
"aa_length": 591,
"cds_start": 1569,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 1606,
"cdna_end": null,
"cdna_length": 7424,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F13B",
"gene_hgnc_id": 3534,
"hgvs_c": "c.1566G>A",
"hgvs_p": "p.Met522Ile",
"transcript": "XM_047449424.1",
"protein_id": "XP_047305380.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 590,
"cds_start": 1566,
"cds_end": null,
"cds_length": 1773,
"cdna_start": 1603,
"cdna_end": null,
"cdna_length": 5159,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F13B",
"gene_hgnc_id": 3534,
"hgvs_c": "n.-21G>A",
"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
}
],
"gene_symbol": "F13B",
"gene_hgnc_id": 3534,
"dbsnp": "rs145703189",
"frequency_reference_population": 0.000024802326,
"hom_count_reference_population": 0,
"allele_count_reference_population": 40,
"gnomad_exomes_af": 0.0000253318,
"gnomad_genomes_af": 0.0000197187,
"gnomad_exomes_ac": 37,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0726546049118042,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.154,
"revel_prediction": "Benign",
"alphamissense_score": 0.1158,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.369,
"phylop100way_prediction": "Benign",
"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_001994.3",
"gene_symbol": "F13B",
"hgnc_id": 3534,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1569G>A",
"hgvs_p": "p.Met523Ile"
}
],
"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
}