← 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: 3-120402871-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=120402871&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 120402871,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_007085.5",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSTL1",
"gene_hgnc_id": 3972,
"hgvs_c": "c.742G>C",
"hgvs_p": "p.Val248Leu",
"transcript": "NM_007085.5",
"protein_id": "NP_009016.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 308,
"cds_start": 742,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000295633.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007085.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSTL1",
"gene_hgnc_id": 3972,
"hgvs_c": "c.742G>C",
"hgvs_p": "p.Val248Leu",
"transcript": "ENST00000295633.8",
"protein_id": "ENSP00000295633.3",
"transcript_support_level": 1,
"aa_start": 248,
"aa_end": null,
"aa_length": 308,
"cds_start": 742,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_007085.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000295633.8"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSTL1",
"gene_hgnc_id": 3972,
"hgvs_c": "c.766G>C",
"hgvs_p": "p.Val256Leu",
"transcript": "ENST00000875454.1",
"protein_id": "ENSP00000545513.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 316,
"cds_start": 766,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875454.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSTL1",
"gene_hgnc_id": 3972,
"hgvs_c": "c.766G>C",
"hgvs_p": "p.Val256Leu",
"transcript": "ENST00000955575.1",
"protein_id": "ENSP00000625634.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 316,
"cds_start": 766,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955575.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSTL1",
"gene_hgnc_id": 3972,
"hgvs_c": "c.742G>C",
"hgvs_p": "p.Val248Leu",
"transcript": "ENST00000469005.2",
"protein_id": "ENSP00000418505.2",
"transcript_support_level": 4,
"aa_start": 248,
"aa_end": null,
"aa_length": 308,
"cds_start": 742,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000469005.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSTL1",
"gene_hgnc_id": 3972,
"hgvs_c": "c.742G>C",
"hgvs_p": "p.Val248Leu",
"transcript": "ENST00000875453.1",
"protein_id": "ENSP00000545512.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 308,
"cds_start": 742,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875453.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSTL1",
"gene_hgnc_id": 3972,
"hgvs_c": "c.742G>C",
"hgvs_p": "p.Val248Leu",
"transcript": "ENST00000875455.1",
"protein_id": "ENSP00000545514.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 308,
"cds_start": 742,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875455.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSTL1",
"gene_hgnc_id": 3972,
"hgvs_c": "c.742G>C",
"hgvs_p": "p.Val248Leu",
"transcript": "ENST00000955572.1",
"protein_id": "ENSP00000625631.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 308,
"cds_start": 742,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955572.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSTL1",
"gene_hgnc_id": 3972,
"hgvs_c": "c.709G>C",
"hgvs_p": "p.Val237Leu",
"transcript": "ENST00000955573.1",
"protein_id": "ENSP00000625632.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 297,
"cds_start": 709,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955573.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSTL1",
"gene_hgnc_id": 3972,
"hgvs_c": "c.682G>C",
"hgvs_p": "p.Val228Leu",
"transcript": "ENST00000955574.1",
"protein_id": "ENSP00000625633.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 288,
"cds_start": 682,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955574.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSTL1",
"gene_hgnc_id": 3972,
"hgvs_c": "c.637G>C",
"hgvs_p": "p.Val213Leu",
"transcript": "ENST00000424703.6",
"protein_id": "ENSP00000394355.2",
"transcript_support_level": 2,
"aa_start": 213,
"aa_end": null,
"aa_length": 273,
"cds_start": 637,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000424703.6"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSTL1",
"gene_hgnc_id": 3972,
"hgvs_c": "c.637G>C",
"hgvs_p": "p.Val213Leu",
"transcript": "ENST00000936490.1",
"protein_id": "ENSP00000606549.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 273,
"cds_start": 637,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936490.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FSTL1",
"gene_hgnc_id": 3972,
"hgvs_c": "c.55+371G>C",
"hgvs_p": null,
"transcript": "ENST00000480823.1",
"protein_id": "ENSP00000418389.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 19,
"cds_start": null,
"cds_end": null,
"cds_length": 60,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000480823.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSTL1",
"gene_hgnc_id": 3972,
"hgvs_c": "n.742G>C",
"hgvs_p": null,
"transcript": "ENST00000710954.1",
"protein_id": "ENSP00000518554.1",
"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": "ENST00000710954.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "BTNL12P",
"gene_hgnc_id": null,
"hgvs_c": "n.633-12930C>G",
"hgvs_p": null,
"transcript": "ENST00000494869.2",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000494869.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BTNL12P",
"gene_hgnc_id": null,
"hgvs_c": "n.181-12930C>G",
"hgvs_p": null,
"transcript": "ENST00000635496.2",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000635496.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BTNL12P",
"gene_hgnc_id": null,
"hgvs_c": "n.186-12930C>G",
"hgvs_p": null,
"transcript": "ENST00000732430.1",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000732430.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BTNL12P",
"gene_hgnc_id": null,
"hgvs_c": "n.200-3050C>G",
"hgvs_p": null,
"transcript": "ENST00000732431.1",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000732431.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "BTNL12P",
"gene_hgnc_id": 52935,
"hgvs_c": "n.997-12930C>G",
"hgvs_p": null,
"transcript": "NR_187254.1",
"protein_id": null,
"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": "pseudogene",
"feature": "NR_187254.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "BTNL12P",
"gene_hgnc_id": 52935,
"hgvs_c": "n.997-12930C>G",
"hgvs_p": null,
"transcript": "NR_187255.1",
"protein_id": null,
"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": "pseudogene",
"feature": "NR_187255.1"
}
],
"gene_symbol": "FSTL1",
"gene_hgnc_id": 3972,
"dbsnp": "rs753729548",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6933063864707947,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.135,
"revel_prediction": "Benign",
"alphamissense_score": 0.5188,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.426,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.04,
"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_007085.5",
"gene_symbol": "FSTL1",
"hgnc_id": 3972,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.742G>C",
"hgvs_p": "p.Val248Leu"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NR_187254.1",
"gene_symbol": "BTNL12P",
"hgnc_id": 52935,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.997-12930C>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}