← Back to variant description
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: 6-31871532-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=31871532&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 31871532,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000229729.11",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A4",
"gene_hgnc_id": 13941,
"hgvs_c": "c.559G>A",
"hgvs_p": "p.Val187Ile",
"transcript": "NM_025257.3",
"protein_id": "NP_079533.2",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 710,
"cds_start": 559,
"cds_end": null,
"cds_length": 2133,
"cdna_start": 576,
"cdna_end": null,
"cdna_length": 2585,
"mane_select": "ENST00000229729.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A4",
"gene_hgnc_id": 13941,
"hgvs_c": "c.559G>A",
"hgvs_p": "p.Val187Ile",
"transcript": "ENST00000229729.11",
"protein_id": "ENSP00000229729.6",
"transcript_support_level": 1,
"aa_start": 187,
"aa_end": null,
"aa_length": 710,
"cds_start": 559,
"cds_end": null,
"cds_length": 2133,
"cdna_start": 576,
"cdna_end": null,
"cdna_length": 2585,
"mane_select": "NM_025257.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A4",
"gene_hgnc_id": 13941,
"hgvs_c": "c.544G>A",
"hgvs_p": "p.Val182Ile",
"transcript": "ENST00000414427.1",
"protein_id": "ENSP00000398901.1",
"transcript_support_level": 5,
"aa_start": 182,
"aa_end": null,
"aa_length": 409,
"cds_start": 544,
"cds_end": null,
"cds_length": 1231,
"cdna_start": 546,
"cdna_end": null,
"cdna_length": 1233,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A4",
"gene_hgnc_id": 13941,
"hgvs_c": "c.433G>A",
"hgvs_p": "p.Val145Ile",
"transcript": "NM_001178044.2",
"protein_id": "NP_001171515.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 668,
"cds_start": 433,
"cds_end": null,
"cds_length": 2007,
"cdna_start": 450,
"cdna_end": null,
"cdna_length": 2459,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A4",
"gene_hgnc_id": 13941,
"hgvs_c": "c.433G>A",
"hgvs_p": "p.Val145Ile",
"transcript": "ENST00000375562.8",
"protein_id": "ENSP00000364712.4",
"transcript_support_level": 2,
"aa_start": 145,
"aa_end": null,
"aa_length": 668,
"cds_start": 433,
"cds_end": null,
"cds_length": 2007,
"cdna_start": 499,
"cdna_end": null,
"cdna_length": 2505,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A4",
"gene_hgnc_id": 13941,
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Val111Ile",
"transcript": "NM_001178045.2",
"protein_id": "NP_001171516.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 634,
"cds_start": 331,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 628,
"cdna_end": null,
"cdna_length": 2637,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC44A4",
"gene_hgnc_id": 13941,
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Val111Ile",
"transcript": "ENST00000544672.5",
"protein_id": "ENSP00000444109.1",
"transcript_support_level": 2,
"aa_start": 111,
"aa_end": null,
"aa_length": 634,
"cds_start": 331,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 628,
"cdna_end": null,
"cdna_length": 2634,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SLC44A4",
"gene_hgnc_id": 13941,
"dbsnp": "rs2242665",
"frequency_reference_population": 0.5632531,
"hom_count_reference_population": 260629,
"allele_count_reference_population": 907617,
"gnomad_exomes_af": 0.559569,
"gnomad_genomes_af": 0.598703,
"gnomad_exomes_ac": 816789,
"gnomad_genomes_ac": 90828,
"gnomad_exomes_homalt": 232890,
"gnomad_genomes_homalt": 27739,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0000017938252767635277,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.009,
"revel_prediction": "Benign",
"alphamissense_score": 0.0677,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.81,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.113,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000229729.11",
"gene_symbol": "SLC44A4",
"hgnc_id": 13941,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.559G>A",
"hgvs_p": "p.Val187Ile"
}
],
"clinvar_disease": " autosomal dominant 72,Hearing loss,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"phenotype_combined": "not provided|Hearing loss, autosomal dominant 72",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}