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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: 1-36393868-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=36393868&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 36393868,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_032881.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSM10",
"gene_hgnc_id": 17562,
"hgvs_c": "c.262G>C",
"hgvs_p": "p.Val88Leu",
"transcript": "NM_032881.3",
"protein_id": "NP_116270.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 123,
"cds_start": 262,
"cds_end": null,
"cds_length": 372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000315732.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032881.3"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSM10",
"gene_hgnc_id": 17562,
"hgvs_c": "c.262G>C",
"hgvs_p": "p.Val88Leu",
"transcript": "ENST00000315732.3",
"protein_id": "ENSP00000319341.2",
"transcript_support_level": 1,
"aa_start": 88,
"aa_end": null,
"aa_length": 123,
"cds_start": 262,
"cds_end": null,
"cds_length": 372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032881.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000315732.3"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSM10",
"gene_hgnc_id": 17562,
"hgvs_c": "c.262G>C",
"hgvs_p": "p.Val88Leu",
"transcript": "ENST00000861455.1",
"protein_id": "ENSP00000531514.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 123,
"cds_start": 262,
"cds_end": null,
"cds_length": 372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861455.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSM10",
"gene_hgnc_id": 17562,
"hgvs_c": "c.262G>C",
"hgvs_p": "p.Val88Leu",
"transcript": "ENST00000861456.1",
"protein_id": "ENSP00000531515.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 123,
"cds_start": 262,
"cds_end": null,
"cds_length": 372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861456.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSM10",
"gene_hgnc_id": 17562,
"hgvs_c": "c.262G>C",
"hgvs_p": "p.Val88Leu",
"transcript": "ENST00000861457.1",
"protein_id": "ENSP00000531516.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 123,
"cds_start": 262,
"cds_end": null,
"cds_length": 372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861457.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSM10",
"gene_hgnc_id": 17562,
"hgvs_c": "c.262G>C",
"hgvs_p": "p.Val88Leu",
"transcript": "ENST00000861458.1",
"protein_id": "ENSP00000531517.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 123,
"cds_start": 262,
"cds_end": null,
"cds_length": 372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861458.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSM10",
"gene_hgnc_id": 17562,
"hgvs_c": "c.262G>C",
"hgvs_p": "p.Val88Leu",
"transcript": "ENST00000861459.1",
"protein_id": "ENSP00000531518.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 123,
"cds_start": 262,
"cds_end": null,
"cds_length": 372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861459.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSM10",
"gene_hgnc_id": 17562,
"hgvs_c": "c.262G>C",
"hgvs_p": "p.Val88Leu",
"transcript": "ENST00000861460.1",
"protein_id": "ENSP00000531519.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 123,
"cds_start": 262,
"cds_end": null,
"cds_length": 372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861460.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSM10",
"gene_hgnc_id": 17562,
"hgvs_c": "c.262G>C",
"hgvs_p": "p.Val88Leu",
"transcript": "ENST00000861461.1",
"protein_id": "ENSP00000531520.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 123,
"cds_start": 262,
"cds_end": null,
"cds_length": 372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861461.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSM10",
"gene_hgnc_id": 17562,
"hgvs_c": "c.262G>C",
"hgvs_p": "p.Val88Leu",
"transcript": "ENST00000861462.1",
"protein_id": "ENSP00000531521.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 123,
"cds_start": 262,
"cds_end": null,
"cds_length": 372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861462.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSM10",
"gene_hgnc_id": 17562,
"hgvs_c": "c.262G>C",
"hgvs_p": "p.Val88Leu",
"transcript": "ENST00000861463.1",
"protein_id": "ENSP00000531522.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 123,
"cds_start": 262,
"cds_end": null,
"cds_length": 372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861463.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSM10",
"gene_hgnc_id": 17562,
"hgvs_c": "c.262G>C",
"hgvs_p": "p.Val88Leu",
"transcript": "ENST00000861464.1",
"protein_id": "ENSP00000531523.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 123,
"cds_start": 262,
"cds_end": null,
"cds_length": 372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861464.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSM10",
"gene_hgnc_id": 17562,
"hgvs_c": "c.262G>C",
"hgvs_p": "p.Val88Leu",
"transcript": "ENST00000916574.1",
"protein_id": "ENSP00000586633.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 123,
"cds_start": 262,
"cds_end": null,
"cds_length": 372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916574.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSM10",
"gene_hgnc_id": 17562,
"hgvs_c": "c.262G>C",
"hgvs_p": "p.Val88Leu",
"transcript": "ENST00000916575.1",
"protein_id": "ENSP00000586634.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 123,
"cds_start": 262,
"cds_end": null,
"cds_length": 372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916575.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSM10",
"gene_hgnc_id": 17562,
"hgvs_c": "c.262G>C",
"hgvs_p": "p.Val88Leu",
"transcript": "ENST00000916576.1",
"protein_id": "ENSP00000586635.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 123,
"cds_start": 262,
"cds_end": null,
"cds_length": 372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916576.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSM10",
"gene_hgnc_id": 17562,
"hgvs_c": "c.262G>C",
"hgvs_p": "p.Val88Leu",
"transcript": "ENST00000916577.1",
"protein_id": "ENSP00000586636.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 123,
"cds_start": 262,
"cds_end": null,
"cds_length": 372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916577.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSM10",
"gene_hgnc_id": 17562,
"hgvs_c": "c.262G>C",
"hgvs_p": "p.Val88Leu",
"transcript": "ENST00000967723.1",
"protein_id": "ENSP00000637782.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 123,
"cds_start": 262,
"cds_end": null,
"cds_length": 372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967723.1"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSM10",
"gene_hgnc_id": 17562,
"hgvs_c": "n.407G>C",
"hgvs_p": null,
"transcript": "ENST00000476041.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "pseudogene",
"feature": "ENST00000476041.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSM10",
"gene_hgnc_id": 17562,
"hgvs_c": "n.*146G>C",
"hgvs_p": null,
"transcript": "ENST00000489912.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "pseudogene",
"feature": "ENST00000489912.1"
}
],
"gene_symbol": "LSM10",
"gene_hgnc_id": 17562,
"dbsnp": "rs201409815",
"frequency_reference_population": 0.000016726013,
"hom_count_reference_population": 0,
"allele_count_reference_population": 27,
"gnomad_exomes_af": 0.00000889257,
"gnomad_genomes_af": 0.0000918888,
"gnomad_exomes_ac": 13,
"gnomad_genomes_ac": 14,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.04639846086502075,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.178,
"revel_prediction": "Benign",
"alphamissense_score": 0.2968,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.19,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.207,
"phylop100way_prediction": "Benign",
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_032881.3",
"gene_symbol": "LSM10",
"hgnc_id": 17562,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.262G>C",
"hgvs_p": "p.Val88Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}