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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: 8-30104437-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=30104437&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 30104437,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001128208.2",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LEPROTL1",
"gene_hgnc_id": 6555,
"hgvs_c": "c.230T>A",
"hgvs_p": "p.Ile77Asn",
"transcript": "NM_015344.3",
"protein_id": "NP_056159.2",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 131,
"cds_start": 230,
"cds_end": null,
"cds_length": 396,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000321250.13",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015344.3"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LEPROTL1",
"gene_hgnc_id": 6555,
"hgvs_c": "c.230T>A",
"hgvs_p": "p.Ile77Asn",
"transcript": "ENST00000321250.13",
"protein_id": "ENSP00000314625.8",
"transcript_support_level": 1,
"aa_start": 77,
"aa_end": null,
"aa_length": 131,
"cds_start": 230,
"cds_end": null,
"cds_length": 396,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015344.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000321250.13"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LEPROTL1",
"gene_hgnc_id": 6555,
"hgvs_c": "c.230T>A",
"hgvs_p": "p.Ile77Asn",
"transcript": "NM_001128208.2",
"protein_id": "NP_001121680.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 169,
"cds_start": 230,
"cds_end": null,
"cds_length": 510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001128208.2"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LEPROTL1",
"gene_hgnc_id": 6555,
"hgvs_c": "c.230T>A",
"hgvs_p": "p.Ile77Asn",
"transcript": "ENST00000523116.5",
"protein_id": "ENSP00000428281.1",
"transcript_support_level": 2,
"aa_start": 77,
"aa_end": null,
"aa_length": 169,
"cds_start": 230,
"cds_end": null,
"cds_length": 510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000523116.5"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LEPROTL1",
"gene_hgnc_id": 6555,
"hgvs_c": "c.230T>A",
"hgvs_p": "p.Ile77Asn",
"transcript": "ENST00000520682.5",
"protein_id": "ENSP00000429656.1",
"transcript_support_level": 5,
"aa_start": 77,
"aa_end": null,
"aa_length": 161,
"cds_start": 230,
"cds_end": null,
"cds_length": 487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000520682.5"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LEPROTL1",
"gene_hgnc_id": 6555,
"hgvs_c": "c.299T>A",
"hgvs_p": "p.Ile100Asn",
"transcript": "ENST00000518192.5",
"protein_id": "ENSP00000428196.1",
"transcript_support_level": 3,
"aa_start": 100,
"aa_end": null,
"aa_length": 154,
"cds_start": 299,
"cds_end": null,
"cds_length": 465,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000518192.5"
},
{
"aa_ref": "I",
"aa_alt": "N",
"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": "LEPROTL1",
"gene_hgnc_id": 6555,
"hgvs_c": "c.230T>A",
"hgvs_p": "p.Ile77Asn",
"transcript": "ENST00000442880.6",
"protein_id": "ENSP00000412803.2",
"transcript_support_level": 2,
"aa_start": 77,
"aa_end": null,
"aa_length": 144,
"cds_start": 230,
"cds_end": null,
"cds_length": 435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000442880.6"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LEPROTL1",
"gene_hgnc_id": 6555,
"hgvs_c": "c.170T>A",
"hgvs_p": "p.Ile57Asn",
"transcript": "ENST00000519466.1",
"protein_id": "ENSP00000429155.1",
"transcript_support_level": 4,
"aa_start": 57,
"aa_end": null,
"aa_length": 135,
"cds_start": 170,
"cds_end": null,
"cds_length": 408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519466.1"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LEPROTL1",
"gene_hgnc_id": 6555,
"hgvs_c": "c.47T>A",
"hgvs_p": "p.Ile16Asn",
"transcript": "ENST00000518001.1",
"protein_id": "ENSP00000430702.1",
"transcript_support_level": 4,
"aa_start": 16,
"aa_end": null,
"aa_length": 70,
"cds_start": 47,
"cds_end": null,
"cds_length": 213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000518001.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LEPROTL1",
"gene_hgnc_id": 6555,
"hgvs_c": "n.230T>A",
"hgvs_p": null,
"transcript": "ENST00000520739.5",
"protein_id": "ENSP00000429398.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000520739.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LEPROTL1",
"gene_hgnc_id": 6555,
"hgvs_c": "n.230T>A",
"hgvs_p": null,
"transcript": "ENST00000650149.1",
"protein_id": "ENSP00000497088.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000650149.1"
}
],
"gene_symbol": "LEPROTL1",
"gene_hgnc_id": 6555,
"dbsnp": "rs762858753",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8433617353439331,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.577,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9376,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.18,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.602,
"phylop100way_prediction": "Pathogenic",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001128208.2",
"gene_symbol": "LEPROTL1",
"hgnc_id": 6555,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.230T>A",
"hgvs_p": "p.Ile77Asn"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}