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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: 8-97815346-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=97815346&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 97815346,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_018407.6",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAPTM4B",
"gene_hgnc_id": 13646,
"hgvs_c": "c.230C>A",
"hgvs_p": "p.Ala77Glu",
"transcript": "NM_018407.6",
"protein_id": "NP_060877.4",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 226,
"cds_start": 230,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000521545.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018407.6"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAPTM4B",
"gene_hgnc_id": 13646,
"hgvs_c": "c.230C>A",
"hgvs_p": "p.Ala77Glu",
"transcript": "ENST00000521545.7",
"protein_id": "ENSP00000428409.1",
"transcript_support_level": 1,
"aa_start": 77,
"aa_end": null,
"aa_length": 226,
"cds_start": 230,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018407.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000521545.7"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAPTM4B",
"gene_hgnc_id": 13646,
"hgvs_c": "c.503C>A",
"hgvs_p": "p.Ala168Glu",
"transcript": "ENST00000445593.6",
"protein_id": "ENSP00000402301.2",
"transcript_support_level": 1,
"aa_start": 168,
"aa_end": null,
"aa_length": 317,
"cds_start": 503,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000445593.6"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAPTM4B",
"gene_hgnc_id": 13646,
"hgvs_c": "c.503C>A",
"hgvs_p": "p.Ala168Glu",
"transcript": "ENST00000619747.1",
"protein_id": "ENSP00000482533.1",
"transcript_support_level": 1,
"aa_start": 168,
"aa_end": null,
"aa_length": 317,
"cds_start": 503,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000619747.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAPTM4B",
"gene_hgnc_id": 13646,
"hgvs_c": "c.230C>A",
"hgvs_p": "p.Ala77Glu",
"transcript": "ENST00000883454.1",
"protein_id": "ENSP00000553513.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 265,
"cds_start": 230,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883454.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAPTM4B",
"gene_hgnc_id": 13646,
"hgvs_c": "c.230C>A",
"hgvs_p": "p.Ala77Glu",
"transcript": "ENST00000883455.1",
"protein_id": "ENSP00000553514.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 213,
"cds_start": 230,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883455.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAPTM4B",
"gene_hgnc_id": 13646,
"hgvs_c": "c.230C>A",
"hgvs_p": "p.Ala77Glu",
"transcript": "ENST00000929554.1",
"protein_id": "ENSP00000599613.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 194,
"cds_start": 230,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929554.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAPTM4B",
"gene_hgnc_id": 13646,
"hgvs_c": "c.230C>A",
"hgvs_p": "p.Ala77Glu",
"transcript": "ENST00000929555.1",
"protein_id": "ENSP00000599614.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 193,
"cds_start": 230,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929555.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAPTM4B",
"gene_hgnc_id": 13646,
"hgvs_c": "c.230C>A",
"hgvs_p": "p.Ala77Glu",
"transcript": "ENST00000929553.1",
"protein_id": "ENSP00000599612.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 185,
"cds_start": 230,
"cds_end": null,
"cds_length": 558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929553.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAPTM4B",
"gene_hgnc_id": 13646,
"hgvs_c": "c.230C>A",
"hgvs_p": "p.Ala77Glu",
"transcript": "ENST00000929557.1",
"protein_id": "ENSP00000599616.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 152,
"cds_start": 230,
"cds_end": null,
"cds_length": 459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929557.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAPTM4B",
"gene_hgnc_id": 13646,
"hgvs_c": "c.254C>A",
"hgvs_p": "p.Ala85Glu",
"transcript": "ENST00000517924.5",
"protein_id": "ENSP00000429868.2",
"transcript_support_level": 5,
"aa_start": 85,
"aa_end": null,
"aa_length": 151,
"cds_start": 254,
"cds_end": null,
"cds_length": 457,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000517924.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LAPTM4B",
"gene_hgnc_id": 13646,
"hgvs_c": "c.100-712C>A",
"hgvs_p": null,
"transcript": "ENST00000929556.1",
"protein_id": "ENSP00000599615.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 164,
"cds_start": null,
"cds_end": null,
"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929556.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LAPTM4B",
"gene_hgnc_id": 13646,
"hgvs_c": "c.100-36051C>A",
"hgvs_p": null,
"transcript": "ENST00000883453.1",
"protein_id": "ENSP00000553512.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 58,
"cds_start": null,
"cds_end": null,
"cds_length": 177,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883453.1"
}
],
"gene_symbol": "LAPTM4B",
"gene_hgnc_id": 13646,
"dbsnp": "rs777507821",
"frequency_reference_population": 0.000048333604,
"hom_count_reference_population": 0,
"allele_count_reference_population": 78,
"gnomad_exomes_af": 0.0000465214,
"gnomad_genomes_af": 0.0000657497,
"gnomad_exomes_ac": 68,
"gnomad_genomes_ac": 10,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7078609466552734,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.43,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9016,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.16,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 4.555,
"phylop100way_prediction": "Uncertain_significance",
"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": "NM_018407.6",
"gene_symbol": "LAPTM4B",
"hgnc_id": 13646,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.230C>A",
"hgvs_p": "p.Ala77Glu"
}
],
"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
}